Síndrome de Bardet-Biedl: A propósito de un caso / Bardet-Biedl syndrome: About a case

El síndrome de Bardet-Biedl (SBB) es una entidad poco frecuente, con gran heterogeneidad clínica y genética. Pertenece a las ciliopatías y tiene un modo de herencia autosómico recesivo. Hasta la fecha se han identificado más de 26 genes asociados. Afecta múltiples sistemas con compromiso oftalmológico, renal, cognitivo, esquelético, gonadal y ponderal. Su diagnóstico se basa en criterios clínicos y se confirma mediante estudios genéticos específicos. Presentamos el caso de un paciente de 2 años y 7 meses de edad, con polidactilia, obesidad, retraso del neurodesarrollo y afección renal en quien se arribó al diagnóstico clínico de SBB con posterior confirmación mediante estudio molecular. Se detectó una variante patogénica en homocigosis en el gen BBS2. La sospecha y confirmación diagnóstica permitieron el manejo adecuado del paciente, planificar el seguimiento apropiado y completar el asesoramiento genético familiar

Bardet-Biedl syndrome (BBS) is a rare entity that holds a great clinical and genetic heterogeneity. It is a ciliopathy and has an autosomal recessive inheritance. To this day more than 26 associated genes have been identified. It affects multiple aspects predominantly ophthalmological, renal, cognitive, skeletal, gonadal and weight. The diagnosis is based on clinical criteria and confirmed by specific genetic studies. We describe a case of a 2-year-and 7 month old patient with polydactyly, obe39 sity, neurodevelopmental delay and kidney dysplasia in which clinical diagnosis was suspected by criteria and subsequently has confirmation by molecular study. An homozygous pathogenic variant was detected in the BBS2 gene. The diagnostic suspicion and later confirmation allowed the proper management of this patient as well as an appropriate follow-up and complete genetic family counseling

Epidemic retinitis during pregnancy

Purpose: To study the clinical presentation and treatment outcome of epidemic retinitis (ER) during pregnancy. Methods: This is a retrospective, observational chart review of pregnant patients diagnosed with ER from January 2014 to February 2023. Demographic details, month of pregnancy at the onset of ocular symptoms, history of present illness, clinical manifestations, and treatment outcomes were studied. Results: In 9 years, ER was seen in 86 females, of whom 12 (13.9%) were pregnant. Twenty?one eyes of those 12 patients were studied. Most of the patients presented in the sixth month of pregnancy (range: 5–9 months, mean: 6.3 months). Physicians diagnosed viral exanthematous fever in six, typhoid in three, and suspected rickettsia in one patient. Medical termination of pregnancy (MTP) was performed in two patients before presentation. Weil–Felix test was positive in five, Brucella in one, WIDAL in three, and coronavirus disease 2019 (COVID?19) IgG and dengue IgG in one patient each. Oral antibiotics were given in five patients (two post?medical termination of pregnancy [MTP]) for the retinitis. All except four received oral steroids. Mean presenting corrected distant visual acuity (n = 21) was 20/125 (range: 20/20–20/20,000), which improved to (n = 18) 20/30 (range: 20/20–20/240). Macular edema (n = 11) resolved in 33.18 days (range: 20–50 days), and retinitis (n = 13) resolved in 58 days (range: 30–110 days). Ocular and systemic examination of newborn was possible in two and the babies were normal. Conclusion: ER is seen commonly at the beginning of the third trimester. Lack of antibiotics may delay the resolution of retinitis. Ocular health needs to be assessed in larger series to conclude absence of retinal involvement in newborns.

Epidemic retinitis during the COVID-19 pandemic

Purpose: To study the impact of the novel coronavirus disease?2019 (COVID?19) pandemic on incidence, seasonal variation, clinical presentation, and disease outcome of epidemic retinitis (ER) and to compare clinical outcomes with positive and negative COVID?19 serology. Methods: This is a retrospective, observational study conducted at a tertiary eye care hospital from August 2020 to June 2022. A graph of ER cases against the month of presentation was compared with the graph of the COVID?19 pandemic in the same region. Cases presented before COVID?19 vaccination, with positive COVID?19 serology (Group 1) were compared with cases with negative serology (Group 2). Results: One hundred and thirty?two cases of ER were seen. The least number of cases were seen during and immediately after the peak of the pandemic (May 2021–August 2021). COVID?19 serology was positive in 13 (22 eyes)/60 (21.6%) unvaccinated cases. Along with COVID?19, positive serology for other ER etiologies was seen in 5/13 cases (38.4%). All patients received oral doxycycline with/without steroids. Groups 1 and 2 included 22 and 21 eyes of 13 cases each. Macular edema resolved in 43.6 and 32 days in groups 1 and 2, respectively. Retinitis resolved at 1 month in both groups. Corrected distant visual acuity was 20/50 and 20/70 at the presentation, which improved to 20/20 and 20/25 in groups 1 and 2, respectively. Mean and median follow?up was 6 months and 4.5 months, respectively, in both groups. No complications or recurrences were seen. Conclusion: No significant impact of the COVID?19 pandemic on ER was observed

Enfermedades crónicas no transmisibles en pacientes y familias con retinosis pigmentaria

Fundamento: la retinosis pigmentaria, enfermedad ocular de origen genético y baja prevalencia, progresa lentamente en años hacia el deterioro visual severo y afecta el desempeño social. En el Servicio de Oftalmología del Hospital Docente Clínico Quirúrgico Dr. Salvador Allende, existe un protocolo asistencial institucional que incluye la atención sistemática e integral de los afectados. Objetivo: identificar las enfermedades crónicas no transmisibles en pacientes con retinosis pigmentaria y en sus familiares. Métodos: estudio descriptivo, prospectivo, realizado entre marzo 2016-marzo 2022, con muestreo no probabilístico e intencionado. Se seleccionaron pacientes y familias registradas en la base de datos del servicio, residentes en los municipios Cerro y Plaza, en La Habana. Resultados: de 145 personas estudiadas (74 enfermos de retinosis pigmentaria y 71 familiares), 138 (95,1 %) presentaban enfermedades crónicas no transmisibles, entre las que se destacan la hipertensión arterial (29,7 %), la diabetes mellitus (21,0 %) y la asociación de ambas (13,0 %). En la dispensarización comunitaria se incluyen en el Grupo 4 las personas con déficit visual y además en otros grupos de dispensarización para atender mejor los factores de riesgo y enfermedades crónicas no transmisibles halladas en ellos. Conclusiones: la identificación de las enfermedades crónicas no transmisibles fue útil, para desplegar una atención médica holística e interdisciplinaria que facilite la prevención de enfermedades y complicaciones, permita preservar la visión, optimizar la rehabilitación visual y la calidad de vida. Se recomienda aplicar atento cuidado y mejorar la educación sanitaria en pacientes con retinosis pigmentaria.

Background: retinitis pigmentosa, an ocular disease of genetic origin and low prevalence, slowly progresses over years towards severe visual impairment and affects social performance. In the Ophthalmology Service of the Dr. Salvador Allende Clinical Surgical Teaching Hospital, there is an institutional care protocol that includes systematic and comprehensive care for those affected. Objective: to identify chronic non-communicable diseases in patients with retinitis pigmentosa and their relatives. Methods: descriptive, prospective study carried out between March 2016-March 2022, with non-probabilistic and intentional sampling. Patients and families registered in the service's database, residing in the Cerro and Plaza municipalities, in Havana, were selected. Results: of 145 people studied (74 patients with retinitis pigmentosa and 71 relatives), 138 (95.1%) had non-communicable chronic diseases, among which arterial hypertension (29.7%), diabetes mellitus (21 0.0%) and the association of both (13.0%). In community dispensing, people with visual impairment are included in Group 4 and also in other dispensing groups to better attend to the risk factors and chronic non-communicable diseases found in them. Conclusions: the identification of chronic non-communicable diseases was useful to deploy holistic and interdisciplinary medical care that facilitates the prevention of diseases and complications, preserves vision, optimizes visual rehabilitation and quality of life. It is recommended to apply attentive care and improve health education in patients with retinitis pigmentosa.

Next-generation sequencing-based genetic testing and phenotype correlation in retinitis pigmentosa patients from India

Purpose: Inherited retinal dystrophies (IRD) are a heterogeneous group of retinal diseases leading to progressive loss of photoreceptors through apoptosis. Retinitis pigmentosa (RP) is considered the most common form of IRD. Panel?based testing in RP has proven effective in identifying the causative genetic mutations in 70% and 80% of the patients. This is a retrospective, observational, single?center study of 107 RP patients who had undergone next?generation sequencing?based targeted gene panel testing for IRD genes. These patients were inspected for common phenotypic features to arrive at meaningful genotype–phenotype correlation. Methods: Patients underwent complete ophthalmic examination, and blood was collected from the proband for DNA extraction after documenting the pedigree. Targeted Next Generation Sequencing (NGS) was done by panel?based testing for IRD genes followed by co?segregation analysis wherever applicable. Results: Of the 107 patients, 72 patients had pathogenic mutations. The mean age of onset of symptoms was 14 ± 12 years (range: 5–55). Mean (Best Corrected Visual Acuity) BCVA was 6/48 (0.9 logMAR) (range 0.0–3.0). At presentation, over one?third of eyes had BCVA worse than 6/60 (<1 logMAR). Phenotype analysis with the gene defects showed overlapping features, such as peripheral well?defined chorioretinal atrophic patches in patients with CERKL, PROM1, and RPE65 gene mutations and large macular lesions in patients with RDH12 and CRX gene mutations, respectively. Nummular or clump?like pigmentation was noted in CRB1, TTC8, PDE6A, and PDE6B. Conclusion: NGS?based genetic testing can help clinicians to diagnose RP more accurately, and phenotypic correlations can also help in better patient counselling with respect to prognosis and guidance regarding ongoing newer gene?based therapies.

Phenotypic heterogeneity in family members of patients with retinitis pigmentosa

Purpose: To describe the phenotypic variations in family members of patients with retinitis pigmentosa (RP) with different modes of inheritance and to assess the ocular abnormalities in RP families. Methods: A descriptive analysis of three types of inheritance of RP was carried out, where 64 family members were examined at a tertiary eye care center, South India. They underwent comprehensive eye examination, fundus photography, fundus autofluorescence (FAF), full?field electroretinogram (FFERG), and spectral domain optical coherence tomography (SD?OCT). Analysis was performed between mild and severe forms of abnormalities to delineate retinal structural and functional defects in RP families. Results: The mean age was 38.55 ± 17.95 years. Males were 48.4%. In autosomal recessive and X?linked recessive groups, 74.2% and 77.3%, respectively, were asymptomatic, whereas in autosomal dominant group, 27.3% were asymptomatic. The proportion of the cases with abnormalities in all three groups was higher on ERG (59.6%), followed by OCT (57.5%), visual acuity (43.7%), peripheral FAF (23.5%), and macular FAF (11.8%). However, these abnormalities and the clinical pictures of the family members had no statistical difference across the three groups of inheritance. Conclusion: Structural and functional retinal alterations were noted in four out of five asymptomatic members, suggesting the need for careful screening of RP families and the pressing need for pre?test (genetic) counseling

Challenges of managing HIV cytomegalovirus co-infection in the presence of pancytopenia

A 60-year-old male patient who presented with generalized weakness and low-grade fever was diagnosed to be human immunodeficiency virus (HIV) positive with a CD4 count of 17. Routine laboratory investigations revealed pancytopenia. Serum cytomegalovirus (CMV) DNA polymerase chain reaction (PCR) was positive and fundoscopy showed CMV retinitis in the right eye. The patient was started on tablet valganciclovir. After 2 weeks, the patient was brought back in an altered sensorium. He was found to have hyponatremia which was corrected. He was started on antiretroviral therapy and tablet valganciclovir was continued. The patient came back again after one and a half months with a urinary tract infection and fissure-in-ano. He was found to have severe neutropenia. Valganciclovir was stopped. He was started on injection granulocyte colony-stimulating factor. The patient clinically improved and his hematological parameters became normal. Patients having HIV and CMV co-infection with pre-existing pancytopenia have to be closely monitored as the medicines used for treatment can exacerbate the existing conditions.

Demographic and Clinical Profile of Patients with Low Vision: A Hospital Based Study

Background: Vision impairment is a significant problem in our country. The purpose of this study was to evaluate the causes and to record the demographic profile of patients with low vision. Material & Methods: After taking permission from ethical committee, the study was conducted on 250 patients presenting in low vision clinic of Regional Institute of Ophthalmology punjab in north India .A detailed examination and information regarding the demographic and clinical characteristics of the patients were recorded .the visual acuity of all the patients were determined using Snellen chart followed by anterior and posterior segment examination using a slit-lamp bio microscope and direct and /or indirect ophthalmoscope.Refraction was done in all the subjects and Best corrected visual acuity was recorded. Their demographic and clinical profile were analyzed using SPSS software. Results: Majority of the patients presenting with low vision were found to be above 56 years of age with higher prevalence in rural (54.40%) than in urban (45.60%) population. Male (65.60%)were predominant than females(34.40%) .Major etiological causes were Diabetic retinopathy 76 (30 .40%) followed by Pathological Myopia (21.20%), ARMD (14.80%), Retinitis pigmentosa (6.80%) and Glaucoma (6.00%). Conclusion: Diabetic retinopathy and pathological myopia were the predominant causes of low vision. Patients from rural background were more affected than urban areas.

Visual impairment and blindness due to retinitis pigmentosa in India: 15-year follow-up of the Andhra Pradesh Eye Disease Study cohort

Purpose: To assess the incidence, visual impairment, and blindness due to retinitis pigmentosa (RP) in a rural southern Indian cohort. Methods: This is a population?based longitudinal cohort study of participants with RP from the Andhra Pradesh Eye Disease Study (APEDS) cohorts I and III, respectively. The study included participants with RP of APEDS I who were followed until APEDS III. Their demographic data along with ocular features, fundus photographs, and visual fields (Humphrey) were collected. Descriptive statistics using mean ± standard deviation with interquartile range (IQR) were calculated. The main outcome measures were RP incidence, visual impairment, and blindness as per the World Health Organization (WHO) definitions. Results: At baseline (APEDS I), 7771 participants residing in three rural areas were examined. There were nine participants with RP with a mean age at baseline of 47.33 ± 10.89 years (IQR: 39–55). There was a male preponderance (6:3), and the mean best?corrected visual acuity (BCVA) of 18 eyes from nine participants with RP was 1.2 ± 0.72 logarithm of minimum angle of resolution (logMAR; IQR: 0.7–1.6). Over a mean follow?up duration of 15 years, 5395/7771 (69.4%) were re?examined, which included seven RP participants from APEDS 1. Additionally, two new participants with RP were identified; so, the overall incidence was 370/ million in 15 years (24.7/million per year). The mean BCVA of 14 eyes of seven participants with RP who were re?examined in APEDS III was 2.17 ± 0.56 logMAR (IQR: 1.8–2.6), and five of these seven participants with RP developed incident blindness during the follow?up period. Conclusion: RP is a prevalent disease in southern India that warrants appropriate strategies to prevent this condition.

Early occurrence of primary angle-closure glaucoma in a patient with retinitis pigmentosa and CRB1 gene variations / Manifestação precoce de glaucoma de ângulo fechado em paciente com retinopatia por mutação no gene CRB1

ABSTRACT We describe the case of a 15-year-old girl with decreased visual acuity associated with elevated intraocular pressure in both eyes and angle closure on gonioscopy. She also presented attenuation of retinal vessels and optic disc pallor with large excavation in the left eye. Ultrasound biomicroscopy revealed an anteriorly positioned ciliary body and absence of ciliary sulcus, confirming the plateau iris configuration. Spectral-domain optical coherence tomography revealed a bilateral cystoid macular edema. Genetic screening revealed heterozygous variants of the Crumbs homolog 1 (CRB1) gene (c.2843G>A and c.2506C>A). The patient underwent trabeculectomy for intraocular pressure control and topical treatment for macular edema. This case highlights the importance of performing gonioscopy and evaluating intraocular pressure in patients with a shallow anterior chamber despite young age. In addition, it also shows the importance of genetic screening, when available, in elucidating the diagnosis and providing patients and their families' information on the patient's prognosis and possible therapeutic options.

RESUMO Nós descrevemos um caso de uma paciente de 15 anos com queda de acuidade visual e aumento da pressão intraocular em ambos os olhos, juntamente com fechamento angular no exame de gonioscopia. Na fundoscopia a paciente apresentava atenuação dos vasos retinianos, palidez de disco e aumento de escavação em olho esquerdo. Ao exame da biomicroscopia ultrassônica, foi evidenciado corpo ciliar anteriorizado e ausência de sulco ciliar em ambos os olhos, relevando presença de íris em plateau. Ao exame de tomografia de coerência óptica, visualizamos presença de edema macular cistoide bilateral. O screening genético revelou heterozigose no gene CRB1 (c.2843G>A and c.2506C>A), confirmando o diagnóstico de retinose pigmentar. Este caso reforça a importância do exame de gonioscopia e da avaliação da pressão intraocular em pacientes em câmara rasa, mesmo em pacientes jovens. Além disso, mostra a importância do screening genético como ferramenta útil para elucidação diagnóstica.

Monitoring Weil–Felix test in epidemic retinitis

Purpose: The objective was to study the positivity of the Weil–Felix test (WFT) in epidemic retinitis (ER) during the course of the disease. Methods: This is a retrospective, observational case series of patients diagnosed with ER and presented to a tertiary eye care hospital in south India. Patients with positive WFT at the presentation, and who underwent a follow?up WFT during or after the resolution of ER were studied from September 2019 to March 2022. Patient’s demographics, timings of clinical presentation and resolution, and investigation details with a special focus on WFT positivity and its duration were noted. Results: Sixteen patients were studied. Patients presented after 5 weeks of the fever (range: 2?12 weeks, median: 4). After 1?2 months, WFT was still positive in eight patients (50%). Only in one patient titers increased after 1 month, while in others, the titers decreased (n = 11) or remained the same (n = 4). Repeated tests in those patients (n = 6) after 3?4 months turned negative. Resolution of ER was seen at 1.35 months (range: 1?3 months) after the presentation. The mean duration for WFT to turn negative was 2 months from the presentation (range: 1?4 months) or 3.2 months of the fever (range: 1.5?6 months). Conclusion: In contrast to the reported physician’s observation of increasing titers of WFT after rickettsial fever, ophthalmologists may observe decreasing WFT titers in ER. The clinical resolution of ER may precede the normalization of WFT. Follow?up WFT titers should be studied in larger series in confirmed cases of rickettsial?ER to validate the affordable and readily available WFT in India

Identification of novel variants in retinitis pigmentosa genes by whole-exome sequencing

SUMMARY OBJECTIVE: Retinitis pigmentosa is an inherited degenerative disorder causing severe retinal dystrophy and visual impairment, mainly with onset in the first or second decades. The next-generation sequencing has become an efficient tool to identify disease-causing mutations in retinitis pigmentosa. The aim of this retrospective study was to investigate novel gene variants and evaluate the utility of whole-exome sequencing in patients with retinitis pigmentosa. METHODS: The medical records of 20 patients with retinitis pigmentosa at Eskişehir City Hospital between September 2019 and February 2022 were analyzed retrospectively. Peripheral venous blood was obtained, followed by the extraction of genomic DNAs. The medical and ophthalmic histories were collected, and ophthalmological examinations were performed. Whole-exome sequencing was performed to determine the genetic etiology of the patients. RESULTS: The proportion of genetically solved cases was 75% (15/20) in the patients with retinitis pigmentosa. Molecular genetic testing identified 13 biallelic and 4 monoallelic mutations in known retinitis pigmentosa genes, including 11 novel variants. According to in silico prediction tools, nine variants were predicted as pathogenic or possibly pathogenic. We identified six previously reported mutations to be associated with retinitis pigmentosa. The age of onset of the patients ranged from 3 to 19, with a mean age of onset of 11.6. All patients had a loss of central vision. CONCLUSION: As the first study of the application of whole-exome sequencing among patients with retinitis pigmentosa in a Turkish cohort, our results may contribute to the characterization of the spectrum of variants related to retinitis pigmentosa in the Turkish population. Future population-based studies will enable us to reveal the detailed genetic epidemiology of retinitis pigmentosa.

VPS13B gene variation and clinical phenotype of Cohen syndrome in a Chinese Han family / 中华实验眼科杂志

Objective:To analyze the pathogenicity and clinical characteristics of patients with Cohen syndrome caused by a compound heterozygous variation of VPS13B gene. Methods:A pedigree investigation was conducted.A Chinese Han family with Cohen syndrome was recruited from Henan Eye Hospital in September 2021.There were three members of two generations in this family, including one patient.The clinical data of the proband and his parents were collected, and the relevant ophthalmic and general examinations were performed to evaluate the clinical phenotype.The peripheral venous blood samples of the family members were collected to extract whole genomic DNA, and the whole exome sequencing was performed.Sanger sequencing and pedigree co-segregation analysis were performed among the family members.According to the ACMG guidelines, the pathogenicity of the selected variants was evaluated and the online tools were used to predict the pathogenicity of the variants.Relevant literature of Cohen syndrome were retrieved in Online Mendelian Inheritance in Man (OMIM) and PubMed, China National Knowledge Infrastructure and Wanfang databases by taking Cohen syndrome and VPS13B gene as the searching keywords.The clinical manifestations and pathogenic variants of patients in the literature were summarized, and the relationship between genotype and clinical phenotype was analyzed.This study protocol adhered to the Declaration of Helsinki and was approved by the Ethics Committee of Henan Eye Hospital (No.HNEECKY-2019[15]). Both the subject and the patient's guardian were aware of the study purpose and method.Written informed consent was obtained. Results:The family was consistent with autosomal recessive inheritance.The proband, a 5-year-old male, had bilateral night blindness with photophobia, ptosis, lower eyelid entropion, and trichiasis; high myopia in both eyes; osteoblastoid pigmentation in the peripheral retina, atrophy and thinning of the outer layer of the peripheral retina, extinguished flashing electroretinogram; global growth retardation, typical facial features, slender fingers and toes, flatfoot, foot valgus, dystonia, no cardiac abnormalities; excessively cheerful personality.The clinical manifestations of the proband were consistent with Cohen syndrome.No obvious abnormality was found in the clinical phenotype and the auxiliary examination of the proband's parents.Whole exon sequencing revealed that the proband carried two heterozygous variations, a nonsense variation c. 11713C>T(p.Gln3905*) and a splicing variation c. 6940+ 1G>T.Sanger sequencing confirmed that the above variations were co-segregated in this family.c.11713C>T(p.Gln3905*) was a novel variant, which prematurely terminated the protein encoded by it and affected the normal function of the protein.The two variations were pathogenic variants according to the ACMG guidelines.A total of 12 articles on variants and clinical characteristics of Cohen syndrome in China were retrieved.Combined with the results of this study, a total of 24 VPS13B variants were found in Chinese patients, of which the incidence of frameshift variation was 41.7%(10/24), missense variation 20.8%(5/24), splicing variation 20.8%(5/24) and nonsense variation 16.7%(4/24), respectively.The onset age of patients with Cohen syndrome was from 28 days to 12 years old.The symptoms such as nerve system, eye, brain, and bone were sporadic, and the clinical manifestations were highly heterogeneous. Conclusions:A novel pathogenic variation c. 11713C>T is found in the VPS13B gene of the Cohen syndrome pedigree in this study, and expands the pathogenic variation spectrum of the VPS13B gene.The clinical manifestations of Cohen syndrome are highly heterogeneous.

Ginsenoside Rg1 injection combined with inosine tablets and vitamin B1 for the treatment of primary retinitis pigmentosa / 国际眼科杂志(Guoji Yanke Zazhi)

AIM: To investigate the effects of ginsenoside Rg1 injection combined with inosine tablets and vitamin B1 on serum brain-derived neurotrophic factor(BDNF), pituitary adenylate cyclase activating polypeptide(PACAP)and clinical efficacy in primary retinitis pigmentosa.METHODS: A total of 50 patients(100 eyes)with primary retinitis pigmentosa who admitted to the Department of Ophthalmology, the Second Affiliated Hospital of Hebei North University from August 2019 to March 2022 were selected as the research object. They were divided into the study group and the control group according to random number table, with 50 eyes in each group. Patients in the control group were treated with inosine tablets and vitamin B1, while patients in the study group were treated with ginsenoside Rg1 injection on the basis of the control group. The expression of BDNF and PACAP in serum, electroretinogram and spectral-domain optical coherence tomography(SD-OCT)were compared before and after treatment, and the retinal thickness(RT), mean deviation(MD), clinical efficacy and safety indexes were compared between the two groups.RESULTS: There were no differences in the MD of the two groups before treatment(t=1.670, P=0.098), while the MD of the study group was significantly lower than that of the control group after treatment(t=3.628, P&#x003C;0.01). Before treatment, RT with a diameter of 1mm at the circle of macular fovea was compared between the two groups(t=0.108, P=0.914), it was significantly higher than that in the control group after treatment(t=6.125, P&#x003C;0.01). Before treatment, there was no significant difference in the results of dark adaptation of electroretinogram between the two groups(all P&#x003E;0.05). After treatment, the results of dark adaptation in the study group were significantly better than those in the control group(all P&#x003C;0.01). Before treatment, there was no significant difference in the results of electroretinogram adaptation between the two groups(all P&#x003E;0.05). After treatment, the results of electroretinogram adaptation in the study group were significantly better than those in the control group(all P&#x003C;0.01). There was no significant difference in BDNF and PACAP between the two groups before treatment(all P&#x003E;0.05). BDNF and PACAP in the study group were higher than those of the control group after treatment(all P&#x003C;0.01). After treatment, no adverse reactions were observed in both groups.CONCLUSION: The treatment of patients with primary retinitis pigmentosa with ginsenoside will improve the retinal function and promote the prognosis of the disease by regulating the expression of BDNF and PACAP, and it is highly safe.

Literature analysis of ocular adverse drug reactions related to dupilumab / 中国药房

OBJECTIVE To analyze the clinical manifestation and characteristics of ocular adverse drug reaction （ADR） related to dupilumab， so as to provide reference for clinically safe drug use. METHODS Retrieved from CNKI， Wanfang data， VIP and PubMed databases， the case reports about ocular ADR caused by dupilumab were collected， and then analyzed statistically in terms of gender， age， primary disease， drug use， occurrence time of ADR， main clinical manifestations， treatment or outcome， etc. RESULTS A total of 20 pieces of literature were selected， involving 46 patients， among which there were 29 males and 17 females. Mainly patients were under 60 years old. The results of the association evaluation was given as follows： 13 were “very likely” and 33 were “likely”. All patients were treated with dupilumab for atopic dermatitis （AD） without off-label medication. The occurrence time of ADR was 2 weeks to 2 years after administration， mainly within 6 months after medication. All patients received dupilumab monotherapy except that 3 patients with hypertension and 1 patient with chronic obstructive pulmonary disease and human immunodeficiency virus received other drugs simultaneously. Twenty-eight patients had a history of allergic disease， and 11 patients had a history of eye disease. Ocular ADRs were mainly conjunctivitis and uveitis， and the clinical manifestations mainly included conjunctival congestion， swelling， eye secretions， etc. Ten patients developed severe ADR， including uveitis， severe conjunctivitis， and tear point stenosis； 45 patients were improved after symptomatic treatment. AD， serious initial symptoms of AD， allergic disease and underlying ocular diseases might be the high-risk factors of ocular ADR caused by dupilumab. CONCLUSIONS Whether the patient has the history of allergic diseases and basic eye diseases should be asked in detail before clinical use of dupilumab. When using the drug， attention should be paid to monitoring whether the patient has intraocular inflammation， be alert to the occurrence of new or serious ADR， and give timely symptomatic treatment to ensure the safety of drug use.

Comparison of visual function before and after wearing amber filter in low vision patients with primary retinitis pigmentosa / 国际眼科杂志(Guoji Yanke Zazhi)

AIM: To compare the visual function of low-vision patients with primary retinal pigmentosa(RP)before and after wearing amber filter.METHODS: Self-control before and after study. A total of 30 patients(60 eyes)with low vision who were diagnosed with primary RP in the ophthalmology clinic of Xi'an No.1 Hospital from August 2021 to March 2022 were collected. The uncorrected distance visual acuity(UCDVA), best-corrected distance visual acuity(BCDVA), uncorrected near visual acuity(UCNVA), best-corrected near visual acuity(BCNVA), visual field and Farnsworth-Munsell(FM)-100 color visions were recorded before and after wearing amber filter. The contrast sensitivity(CS)in three visual environments including bright room, darkroom and darkroom with glare was measured and recorded respectively, and the changes of those parameters were analyzed before and after wearing filter.RESULTS: UCDVA and BCDVA after wearing the filter were better than those before wearing(t=-2.32, P&#x0026;#x003C;0.001; t=-6.77, P&#x0026;#x003C;0.001), while there was no statistically significant difference in UCNVA and BCNVA before and after wearing filter. The visual field index(VFI)after wearing filter was lower than that before wearing(t=8.62, P&#x0026;#x003C;0.001), and the mean defect(MD)of visual field was greater than that before wearing(t=7.73, P&#x0026;#x003C;0.001). FM100 color chess test showed that both total error score(TES)and partial error score(PES)in multiple regions were higher than those before wearing filter(P&#x0026;#x003C;0.001). After wearing, the CS of each frequency band in the environment of bright room and darkroom with glare was higher than that before wearing(P&#x0026;#x003C;0.001), and there was no statistically significant difference in each frequency band before and after wearing amber filter under the environment of darkroom without glare.CONCLUSION: Patients with low vision of primary RP showed improved UCDVA and BCDVA, but unchanged UCNVA and BCNVA after wearing amber filter, while the visual field and color discrimination were worse than those before wearing filter. The CS of the bright room and darkroom with glare environment was improved than before wearing filter, while there were no significant changes in CS under darkroom without glare.

Treatment of Retinitis Pigmentosa with Traditional Chinese and Western Medicine： A Review / 中国实验方剂学杂志

Retinitis pigmentosa （RP） is a group of progressive and blinding hereditary fundus diseases characterized by damaged retinal photoreceptor cells and retinal pigment epithelium. With the clinical manifestations of night blindness and progressive visual field defect， RP has a high possibility of developing into blindness， which seriously affects the quality of life of the patients. The recent years have witnessed increasing studies about the pathogenesis and treatment of RP. By reviewing the relevant articles， we conclude that the pathogenesis of RP is mainly related to genes， and retinal blood perfusion， oxidative stress injury， and inflammatory cascade all affect the progression of this disease. The traditional Chinese medicine （TCM） therapies for RP mainly include TCM compound prescriptions， Chinese medicine extract， acupuncture combined with medicine， and comprehensive TCM treatment. The Western medicine therapies include gene therapy， stem cell therapy， optogenetic therapy， retinal prosthesis， drugs， treatment of complications and other therapies. The intervention mechanisms of traditional Chinese and Western medicine often involve gene modification， alternative therapy， improvement of retinal blood perfusion， antioxidant damage， and nutritional support. By summarizing the specific methods and effects of traditional Chinese and Western medicine in treating RP， we hope to provide a reference for the management and treatment of RP.

Inhibition of photoreceptor apoptosis in mice with retinitis pigmentosa through NF-κB/NLRP3 pathway suppression with Lycium barbarum polysaccharide / 数字中医药（英文）

Objective@# To explore whether Lycium barbarum polysaccharide (LBP) can reduce the apoptosis of retinal photoreceptor cells in retinitis pigmentosa (RP) mice by inhibiting nuclear factor-kappa B (NF-κB)/NOD-like receptor thermal protein domain-associated protein 3 (NLRP3) signaling pathway. @*Methods@# (i) In vitro experiments, mouse retinal ganglion cells (661W cells) were divided into normal, model, LBP low-dose (LBP-L, 40 mg/L), LBP middle-dose (LBP-M, 80 mg/L), LBP high-dose (LBP-H, 160 mg/L), and positive drug control (NLRP3 inhibitor, 160 mg/L) groups. And the 661W cells were exposed to varying concentrations of H2O2 ranging from 50 to 400 μmol/L to determine the optimal concentration for inducing apoptosis (200 μmol/L). Then the cell viability was assessed using Cell Counting Kit-8 (CCK-8), while the apoptosis rate was detected by flow cytometry; the expression of NLRP3 was detected by immunofluorescence; and the expression of apoptosis markers was detected by enzyme-linked immunosorbent assay (ELISA) and Western blot (WB). (ii) In vivo assays were carried out with the use of C57/BL6 and Rd10 mice. The animal experimental groups were divided into normal, model, LBP-L, LBP-M, LBP-H, and NLRP3 inhibitor groups, in which the normal group was C57/BL6 mice and the other groups were Rd10 mice. Ten mice were included in each group, and the corresponding drugs were administered intragastrically for a duration of four weeks. NF-κB/NLRP3 pathway and the expression of apoptosis markers were observed by electroretinogram, histopathological examination, and WB to assess the effects of LBP on retinal photoreceptor cell apoptosis.@*Results@#(i) In vitro experiments, compared with the normal group, the apoptosis rate of 661W cells in model group was significantly increased (P < 0.01), and the expression levels of key proteins of NF-κB/NLRP pathway, such as NLRP3, NF-κB, p-NF-κB, and pro-apoptotic protein caspase-3, were up-regulated (P < 0.01). The rate of Bax/Bcl-2 was increased (P < 0.01), and the concentrations of interleukin (IL)-1β and tumor necrosis factor (TNF)-α were significantly increased (P < 0.01). Compared with the model group, high dose of LBP decreased the apoptosis rate of 661W cells (P < 0.01), and down-regulated the expression levelsof the key proteins of NF-κB/NLRP3 pathway, including NF-κB, NLRP3, p-NF-κB, and caspase-3 (P < 0.01). The rate of Bax/Bcl-2 was decreased (P < 0.01), and the concentrations of IL-1β and TNF-α were decreased (P < 0.01). (ii) In vivo experiments, high dose of LBP significantly increased morphological changes in the outer nuclear layer (ONL) thickness of Rd10 mice, as well as functional changes in the amplitudes of the a-wave and b-wave (P < 0.01), which also down-regulated the expression levels of NF-κB (P < 0.05), NLRP3, p-NF-κB, and caspase-3 (P < 0.01), reduced the Bax/Bcl-2 rate (P < 0.01), and decreased the concentrations of IL-1β (P < 0.01) and TNF-α (P < 0.05). @*Conclusion@#LBP could improve both retinal morphology and function, providing protection to photoreceptors from apoptosis through the inhibition of the NF-κB/NLRP3 pathway.

Clinical characteristics in the misdiagnosis of cytomegalovirus retinitis: A retrospective analysis of eight patients

Purpose: To highlight characteristics in the misdiagnosis of cytomegalovirus retinitis (CMVR). Methods: Misdiagnosed cases related to CMVR were analyzed retrospectively at the Department of Ophthalmology, Beijing Youan Hospital, from July 2017 to October 2019. The medical records were reviewed by two independent senior ophthalmologists and the patients’ clinical characteristics were analyzed. Results: Eight patients (16 eyes) were identified with misdiagnoses related to CMVR. Six of the patients with CMVR were previously unaware of their human immunodeficiency virus (HIV) infection; one patient with CMVR concealed their history of HIV infection. The cases were initially misdiagnosed as diabetic retinopathy (1/7, 14.3%), branch retinal vein occlusion (1/7, 14.3%), ischemic optic neuropathy (1/7, 14.3%), Behçet’s disease (1/7, 14.3%), iridocyclitis (2/7, 28.6%), and progressive outer retinal necrosis (1/7, 14.3%). One patient with binocular renal retinopathy and chronic renal insufficiency was misdiagnosed with CMVR. Four eyes (4/16, 25%) presented with pan?retinal involvement. Fourteen eyes (14/16, 87.5%) had optic disc or macular area involvement. At the final diagnosis, one patient was blind, and two patients had low vision. Seven AIDS patients showed an extremely low level of CD4+ T lymphocytes (median of 5 cells/?l; range 1–9 cells/?l). Conclusion: CMVR may be misdiagnosed in the absence of known immune suppression. CMVR and HIV screening cannot be overlooked if a young male patient presents with yellowish?white retinal lesions. These misdiagnosed patients had severe retinitis associated with poor vision

Enfermedad por arañazo de gato atípica: compromiso ocular y meníngeo por Bartonella henselae / Atypical cat scratch disease: Bartonella henselae ocular and meningeal involvement

Bartonella henselae es el agente etiológico de la enfermedad por arañazo de gato. Típicamente, se presenta como una linfadenopatía regional autolimitada y, con menor frecuencia, con compromiso sistémico y manifestaciones extraganglionares: hígado, bazo, hueso y ojo, entre otros. Se presenta un caso de enfermedad por arañazo de gato atípica en un paciente pediátrico inmunocompetente, en la que se evidenció compromiso meníngeo y ocular, este último como neurorretinitis. Se destaca la importancia de la búsqueda activa de complicaciones oculares en pacientes con compromiso sistémico por Bartonella henselae, que implica un cambio en el tratamiento y pronóstico de la enfermedad

Bartonella henselae is the etiologic agent of cat scratch disease. It typically presents as a self-limited regional lymphadenopathy and less frequently with systemic involvement and extranodal manifestations: liver, spleen, bone, eye, among others. A case of atypical cat scratch disease is presented in an immunocompetent pediatric patient, in which meningeal and ocular involvement was evidenced, the latter manifested as neuroretinitis. The importance of the active search for ocular complications in patients with systemic involvement by Bartonella henselae is highlighted, implying a change in the treatment and prognosis of the disease