ABSTRACT
Resumen La coroideremia es una enfermedad retiniana hereditaria que se caracteriza por la degeneración progresiva coriocapilar de coroides y retina; esta tiene la capacidad de limitar el funcionamiento y generar discapacidad, afectando el desempeño de la persona en el ámbito familiar, social y profesional, al producir dificultades en la comunicación, la movilidad, el desplazamiento y la gestión de su diario vivir. Esta condición de salud ocular se origina por una mutación del gen que codifica la proteína RabEscort-1, ubicada en el cromosoma Xq21. Su fisiopatología no es clara, y los reportes de caso de coroideremia familiar son escasos en Latinoamérica. Se reporta el caso de un hombre de 54 años con nictalopía y pérdida progresiva de agudeza visual, con un hermano menor con coroideremia y primo materno con sospecha de dicha enfermedad, con énfasis en evolución clínica, hallazgos al fondo de ojo y progresión a discapacidad categoría visual, tipo baja visión. MÉD.UIS. 2020;33(2):109-115.
Abstract Choroideremia is a hereditary retinal disease characterized by progressive choroidal and retinal choriocapillary degeneration, it has the ability to limit functioning and generate disability, affecting the persons performance in the family, social and professional environment, by causing difficulties in communication, mobility, displacement and management of your daily life. This eye health condition is caused by a mutation of the gene that encodes the RabEscort-1 protein, located on the Xq21 chromosome. His pathophysiology is not clear, and case reports of familial choroideremia are sparse in Latin America. The case of a 54-year-old man with night blindness and progressive loss of visual acuity is reported, with a younger brother with choroideremia and maternal cousin with suspected disease, with emphasis on clinical evolution, fundus findings and progression to disability category visual, low vision type. MÉD.UIS. 2020;33(2):109-115.
Subject(s)
Humans , Male , Middle Aged , Choroideremia , Retinal Diseases , Blindness , Night Blindness , Vision, LowABSTRACT
Objective To identify choroideremia and retinitis pigmentosa ( RP ) using next-generation sequencing( NGS) technology. Methods A cross-sectional study was adopted. The participants were two pedigrees that was suspected of RP in previous hospital treatments in He Eye Specialist Hospital between January 2017 and December 2018. The relevant medical and family history were collected,and the family tree was plotted. The visual acuity, intraocular pressure, fundus photography, electroretinogram ( ERG ) , B-mode ultrasond, visual field, color vision,optical coherence tomography(OCT),and slit lamp assessment were performed on all subjects. Target region sequencing and Sanger sequencing were performed, deletion insertion of large fragments was verified by real-time quantitative PCR. This study followed the Helsinki Declaration and was approved by the Ethics Committee of Shenyang He Eye Hospital(NO. IRB[2017]k002. 01) Results Two known pathogenic mutations were identified in CHM gene:EX9 DEL and c. 715C>T. Furthermore, the clinical diagnosis of choroideremia was confirmed. The Family 1 probandⅡ1 with the EX9 DEL hemizygous mutation had a special clinical phenotype,"Star" small piece intact choroid was visible in the macular fovea of both eyes. The patients in pedigree 2 carried the pathogenic mutation c. 715C>T,the probandⅢ1 carried a hemizygous mutation and the reddish island area in the fovea macula was seen in both eyes. The motherⅡ2 and grandmother I2 of proband carried heterozygous mutations,the degree of fundus atrophy was lighter than that of the proband Ⅲ1, the fundus had a mottled appearance, the optic disc boundary was clear, the blood vessel thickness was moderate,and the exposed choroid was visible in the fundus atrophy area. Conclusions This study is the first to identify two known pathogenic mutations in CHM gene,EX9 DEL and c. 715C>T in Asian Manchu and Han populations. The clinical phenotypes of female carriers with the c. 715C>t pathogenic mutation are different from those of male patients. The NGS technology may become a powerful tool to distinguish choroideremia from RP.
ABSTRACT
Objective@#To identify choroideremia and retinitis pigmentosa(RP)using next-generation sequencing(NGS)technology.@*Methods@#A cross-sectional study was adopted.The participants were two pedigrees that was suspected of RP in previous hospital treatments in He Eye Specialist Hospital between January 2017 and December 2018.The relevant medical and family history were collected, and the family tree was plotted.The visual acuity, intraocular pressure, fundus photography, electroretinogram(ERG), B-mode ultrasond, visual field, color vision, optical coherence tomography(OCT), and slit lamp assessment were performed on all subjects.Target region sequencing and Sanger sequencing were performed, deletion insertion of large fragments was verified by real-time quantitative PCR.This study followed the Helsinki Declaration and was approved by the Ethics Committee of Shenyang He Eye Hospital(NO. IRB[2017]k002.01)@*Results@#Two known pathogenic mutations were identified in CHM gene: EX9 DEL and c. 715C>T.Furthermore, the clinical diagnosis of choroideremia was confirmed.The Family 1 proband Ⅱ1 with the EX9 DEL hemizygous mutation had a special clinical phenotype, "Star" small piece intact choroid was visible in the macular fovea of both eyes.The patients in pedigree 2 carried the pathogenic mutation c. 715C>T, the proband Ⅲ1 carried a hemizygous mutation and the reddish island area in the fovea macula was seen in both eyes.The mother Ⅱ2 and grandmother I2 of proband carried heterozygous mutations, the degree of fundus atrophy was lighter than that of the proband Ⅲ1, the fundus had a mottled appearance, the optic disc boundary was clear, the blood vessel thickness was moderate, and the exposed choroid was visible in the fundus atrophy area.@*Conclusions@#This study is the first to identify two known pathogenic mutations in CHM gene, EX9 DEL and c. 715C>T in Asian Manchu and Han populations.The clinical phenotypes of female carriers with the c. 715C>t pathogenic mutation are different from those of male patients.The NGS technology may become a powerful tool to distinguish choroideremia from RP.
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Objective To provide detailed clinical and molecular genetic findings and describe the characteristics of natural history in Chinese choroideremia (CHM) patients.Methods The patients with CHM who met the inclusion criteria of at least two visits over a minimum period of 5 years were recruited on a voluntary basis at the Ophthalmic Genetics Clinic in Peking Union Medical College Hospital from April 2009 to August 2017.Molecular genetic analysis results,best-corrected visual acuity (BCVA),color fundus photograph,optical coherence tomography (OCT),visual field (VF),full-field electroretinography (fERG) were obtained.This study protocol was approved by the Institutional Review Board of Peking Union Medical College Hospital (S-K125).Written informed consent was obtained from each participant.Results Ten Chinese Han patients from seven CHM families were included.The mutations were confirmed by molecular genetic analysis,and two novel mutations were found.The median age of 10 patients at first visit was 44 years (range 8-52 years).The mean first-last visit period was 6.08 years (range 5.03-7.24 years).The mean BCVA at first visit in logMAR equivalents was 0.56 (range 0.0-2.0) or approximately 0.28 decimal acuity.The correlation between BCVA at first visit and age showed that relative good vision remained until 35 years old and BCVA subsequently reduced rapidly.OCT showed a thickening of the central retinal thickness at early stage,followed by a thinning over decades.Outer retinal tabulation (ORT) was shown in some patients.There was a strong negative correlation (r=-0.861,P＜0.001) between residual VF and age.Five patients did not need to record fERG because of serious fundus lesions.Two patients exhibited decreased amplitudes for both rod and cone-driven responses,and three patients exhibited no fERG amplitudes.Conclusions The progression of CHM may be severer and faster in Chinese patients than that in Western patients.ORT is an important manifestation of OCT in CHM patients.VF and fERG are applicable to evaluate the condition of very-early phase of CHM.
ABSTRACT
Choroideremia is a rare X-linked disorder causing progressive chorioretinal atrophy. Affected patients develop night blindness with progressive peripheral vision loss and eventual blindness. Herein, we report two Korean families with choroideremia. Multimodal imaging studies showed that the probands had progressive loss of visual field with characteristic chorioretinal atrophy, while electroretinography demonstrated nearly extinguished cone and rod responses compatible with choroideremia. Sanger sequencing of all coding exons and flanking intronic regions of the CHM gene revealed a novel small deletion at a splice site (c.184_189+3delTACCAGGTA) in one patient and a deletion of the entire exon 9 in the other. This is the first report on a molecular genetic diagnosis of choroideremia in Korean individuals. Molecular diagnosis of choroideremia should be widely adopted for proper diagnosis and the development of new treatment modalities including gene therapy.
Subject(s)
Humans , Atrophy , Blindness , Choroideremia , Clinical Coding , Diagnosis , Electroretinography , Exons , Genetic Therapy , Introns , Molecular Biology , Multimodal Imaging , Night Blindness , Visual FieldsABSTRACT
PURPOSE: To report the first domestic case of choroidal neovascularization in a choroideremia patient treated with intravitreal bevacizumab injection. CASE SUMMARY: A 29-year-old male presented with a sudden decline in vision in the left eye. Fundus examination revealed areas of choriocapillaries and retinal pigment epithelium atrophy with macular hemorrhage. Fluorescein angiogram revealed vascular hyperfluorescence in the juxtafoveal area. Neurosensory detachment around the macula and increased central macular thickness was also observed using optical coherence tomography. Upon the diagnosis of choroideremia with choroidal neovascularization, the patient was treated with 1.25 mg intravitreal bevacizumab. Visual acuity improved after four injections of intravitreal Bevacizumab with improvement in both detachment and fluorescein leakage. CONCLUSIONS: In patients with choroideremia presenting sudden decline in vision, ophthalmologists should detect for possible choroidal neovascularization. The results from the present study show that judicious use of intravitreal Bevacizumab may be effective in such cases. Further studies with a large sample size and sufficiently long follow-up periods are required.
Subject(s)
Adult , Humans , Male , Antibodies, Monoclonal, Humanized , Atrophy , Choroid , Choroidal Neovascularization , Choroideremia , Eye , Fluorescein , Follow-Up Studies , Hemorrhage , Retinal Pigment Epithelium , Sample Size , Tomography, Optical Coherence , Vision, Ocular , Visual Acuity , BevacizumabABSTRACT
Choroideremia is a rare hereditary disease with characteristic fundus that causes night blindness and peripheral visual field loss. The authors encounter choroideremia accompanied by recurrent uveitis. This paper is designed to give a description of the condition, along with an investigation of the literature. Ophthalmological tests and treatments were performed. Characteristic fundus, night blindness, peripheral visual field loss, electroretinography and other manifestations led us to a diagnosis of choroideremia. The anterior uveitis was managed with medication.