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2.
Ophthalmol Retina ; 8(2): 155-162, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-37678612

RESUMO

PURPOSE: To describe the ocular and renal features, as well as outcomes of retinal detachment repair, in patients with a novel, homozygous laminin ß-2 (LAMB2) pathogenic variant. DESIGN: Single-center retrospective chart review of patients with a homozygous variant, c.619T>C p.(Ser207Pro), in the LAMB2 gene. SUBJECTS: Eleven patients (22 eyes) from 4 families. METHODS: Demographic data and ocular findings were recorded. Patients were recalled for a detailed renal evaluation. MAIN OUTCOME MEASURES: Ocular features, renal features, and outcomes of retinal detachment repair. RESULTS: The mean age at presentation was 6.0 (range, 1-26) years. None of the study eyes had microcoria, and none of the patients had nephrotic-range proteinuria. The mean refraction and axial length were -7.9 diopters (range, -4.0 to -12.0 diopters) and 25.3 (range, 22.7-27.7) mm, respectively. Eleven eyes (50%) had cataract at presentation. Fifteen eyes had a clear view to the fundus and all showed tessellated myopic fundus, avascular peripheral retina evident clinically or on fluorescein angiography, and rudimentary fovea. Optic disc pallor was observed in 10 eyes (66.7%). Straightened retinal vessels, abnormal vascular emanation (situs inversus) from the optic disc, supernumerary vascular branching at the optic disc, and vascular tortuosity were observed in 10 (66.7%), 2 (13.4%), 2 (13.4%), and 2 (13.4%) eyes, respectively. Discrete areas of punched-out chorioretinal atrophy were observed in 4 (26.7%) eyes. Spectral-domain OCT showed retinal and choroidal thinning in 13 eyes (86.7%), retinoschisis temporal to the fovea in 2 eyes (13.4%), and rudimentary fovea in 15 eyes (100%). Among the 22 eyes, 14 eyes (63.6%) developed rhegmatogenous retinal detachment (RRD), mostly during childhood, of which 5 patients had bilateral RRD. Eight eyes were operated on and 6 (75%) achieved retinal reattachment at the last follow-up. The mean preoperative visual acuity was 20/300 and the mean postoperative visual acuity at the last follow-up was 20/400. CONCLUSIONS: This study describes a distinct phenotype of LAMB2-related disease with a novel, homozygous LAMB2 variant, and further expands the spectrum of ophthalmic and renal features, and the molecular genetic basis, of LAMB2-related disease. Because the typical microcoria and nephrotic-range proteinuria might be absent, the retinal features can guide the diagnosis. FINANCIAL DISCLOSURE(S): The authors have no proprietary or commercial interest in any materials discussed in this article.


Assuntos
Anormalidades do Olho , Miopia , Descolamento Retiniano , Adolescente , Adulto , Criança , Pré-Escolar , Humanos , Lactente , Adulto Jovem , Miopia/complicações , Proteinúria/complicações , Proteinúria/patologia , Retina/patologia , Descolamento Retiniano/etiologia , Descolamento Retiniano/genética , Estudos Retrospectivos
3.
Cureus ; 15(11): e48551, 2023 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-38074026

RESUMO

BACKGROUND: Home healthcare represents a great necessity for patients with diabetes mellitus (DM). Although there are numerous studies on geriatric diabetic patients, there are few studies on diabetic home care versus hospital care. AIM: This study aimed to compare the effect of home healthcare services to hospital care for controlling type 2 diabetes mellitus (T2DM) at King Salman Armed Forces Hospital, Tabuk, Saudi Arabia. METHODS: This retrospective cohort study included patients with type 2 diabetes mellitus at King Salman Armed Forces Hospital. The home healthcare group included 128 participants who received frequent follow-up visits at home. The hospital care group included 128 participants from the primary care clinic. Glycosylated hemoglobin (HbA1c) was used to measure glycemic control. Logistic regression analysis was done to detect factors related to achieving glycemic control. RESULTS: Home healthcare care had a greater impact on the reduction of baseline glycosylated hemoglobin levels (p=0.0053). The target glycosylated hemoglobin was achieved by patients who received home healthcare (p=0.020). Using the multivariate regression analysis, home healthcare, married patients, those who can do full daily life activities without assistance, and those who were treated with only insulin had significant correlations to meet the target glycosylated hemoglobin level (odds ratio: 0.814, 0.541, 0.448, and 0.144; 95% confidence intervals: 0.72-0.94, 0.30-0.99, 0.31-0.65, and 0.08-0.25, respectively). CONCLUSIONS: Home care strategy for patients suffering from type 2 diabetes mellitus provides better glycemic control compared to hospital care. Home care, marriage, doing full daily activities, and insulin treatment are important factors affecting glycemic control.

4.
Cureus ; 15(11): e49352, 2023 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-38143625

RESUMO

Introduction Urinary tract infections (UTIs) are a common global health issue, yet awareness and knowledge about UTIs among the general population can vary widely. This study aimed to assess the awareness, knowledge, and attitudes regarding UTIs among Saudi Arabian citizens residing in Al-Ahsa, Saudi Arabia. Methods A descriptive cross-sectional study was conducted among Saudi Arabian citizens aged 18 and above residing in Alhassa. A structured questionnaire was used to collect data on participants' awareness, knowledge, attitudes, and experiences related to UTIs. Data were analyzed using IBM® SPSS® Statistics. Results The study included 445 participants, predominantly males, with 279 (62.7%) and a range of educational backgrounds. Approximately 302 (70.1%) of the participants were aware of UTIs. However, misconceptions about the definition of UTI and its risk factors were common. Most participants recognized bacteria as the primary cause of UTIs, with 261 (58.7%) identifying this factor. Symptoms such as painful urination were recognized by 390 participants, which is a significant proportion. When experiencing UTI symptoms, 285 (66.1%) indicated they would go to the hospital. Significant associations were found between awareness, knowledge, and socio-demographic factors. Conclusion This study highlights the need for increased awareness and knowledge about UTIs among Saudi Arabian citizens in Alhassa. Tailored educational interventions are essential to correct misconceptions, promote accurate risk factor awareness, and encourage appropriate management strategies. Public health campaigns can contribute to reducing the burden of UTIs in the community.

7.
Neuroophthalmology ; 46(3): 182-185, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35574165

RESUMO

We report a case of 51-year-old medically healthy male who presented with gradual painless diminution of vision in both eyes for 3 months. His visual acuity was hand movement perception in the right eye, and no light perception in the left eye. The intraocular pressure, external eye examination, ocular motility and anterior segment examinations were normal. Fundus examination revealed severe bilateral papilloedema and engorged tortuous veins in both eyes. Imaging exhibited a large intracranial tumour causing raised intracranial pressure. This was debulked by neurosurgery and histological examination revealed that the tumour was an olfactory neuroblastoma (ONB). This case is noteworthy since ONBs rarely present with isolated papilloedema without any accompanying ophthalmoplegia, proptosis, epistaxis, nasal, or neurological symptoms.

10.
Eur J Ophthalmol ; 32(1): NP102-NP108, 2022 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-33153312

RESUMO

BACKGROUND: Intraocular lymphoma (IOL) is an uncommon ophthalmic malignancy and poses a diagnostic challenge. Uveitis associated with systemic lymphoma (USL) has been predominantly attributed to non-Hodgkin lymphoma (NHL) and rarely reported with Hodgkin lymphoma (HL) in the literature. METHODS: Case report with review of the literature. RESULTS: A 25-year-old healthy male presented with bilateral granulomatous panuveitis including vasculitis and discrete chorioretinal yellowish-white lesions. Macular optical coherence tomography (OCT) of both eyes revealed a disruption of ellipsoid and interdigitation zones over the areas of subretinal lesions as well as a small sub-retinal pigment epithelium (RPE) deposit in one eye. Thorough uveitis workup revealed clavicular, axillary and cervical lymphadenopathy, and biopsy of lymph nodes confirmed the diagnosis of nodular lymphocyte-predominant (NLP) HL. Six months later and after receiving chemotherapy, all symptoms and most of clinical signs resolved. CONCLUSIONS: Clinical features of USL do not differ between HL and NHL. However, the age of presentation may be much younger in HL. Ocular manifestations can precede systemic HL diagnosis, as shown in our patient. Therefore, USL should be part of the differential diagnosis of panuveitis. Paraneoplastic inflammation is thought be the cause of uveitis associated with HL. The sub-RPE deposit and disruption of ellipsoid and interdigitation zones on OCT have not been documented before as a manifestation of uveitis secondary to HL. In addition, the NLP subtype of HL was reported in only 1 case with uveitis in the literature.


Assuntos
Doença de Hodgkin , Pan-Uveíte , Uveíte , Adulto , Doença de Hodgkin/complicações , Doença de Hodgkin/diagnóstico , Doença de Hodgkin/tratamento farmacológico , Humanos , Masculino , Pan-Uveíte/diagnóstico , Pan-Uveíte/tratamento farmacológico , Pan-Uveíte/etiologia , Epitélio Pigmentado da Retina , Tomografia de Coerência Óptica , Uveíte/diagnóstico , Uveíte/tratamento farmacológico , Uveíte/etiologia
11.
Cureus ; 13(11): e19249, 2021 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-34881117

RESUMO

The thoracolumbar region is the most vulnerable segment of the spine to traumatic injuries. It represents a region of transition of the relatively fixed and immobile thoracic spine and flexible lumbar spine. Injuries to the thoracolumbar region often result from high-energy trauma. We present the case of a 24-year-old woman who was brought to the emergency department after a fall from a great height. She presented with severe back pain that was associated with the inability to move both of her lower limbs with absent sensation and loss of urinary and bowel continence. Otherwise, she was hemodynamically stable. The patient underwent a computed tomography scan of the abdomen and pelvis. It demonstrated a complete fracture-dislocation of the second lumbar vertebra relative to the first lumbar vertebra causing shortening of the vertebral column. The second lumbar vertebra had a complete lateral dislocation and appeared in the same axial plane as the first lumbar vertebra giving the appearance of a "double vertebrae" sign. The patient was prepared for emergency open reduction internal fixation with a posterior surgical approach. The operation was done under general anesthesia with the use of sensory-evoked potential responses to avoid any neurological injury. Good realignment of the thoracolumbar spine was achieved. Six months after the operation, the patient was asymptomatic and resumed her regular activities. Complete traumatic lateral dislocation of the lumbar spine is very rare. Early diagnosis of such fracture by computed tomography scan is crucial to avoid maneuvers that may cause unintended spinal cord injuries.

12.
Cureus ; 13(10): e18835, 2021 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-34804690

RESUMO

Acute appendicitis is the most frequent indication for emergency abdominal surgery in childhood. Despite being a common condition, the diagnosis of acute appendicitis can be challenging. Ultrasound examination remains the imaging tool of choice for the diagnosis of acute appendicitis. We report the case of a nine-year-old girl who presented with acute abdominal pain in the right lower quadrant accompanied by nausea and vomiting. Physical examination revealed right iliac fossa rebound tenderness. Ultrasound examination showed a dilated blind-ended structure in the right iliac fossa conferring the diagnosis of acute appendicitis. The patient underwent a CT scan which made the diagnosis of imperforate hymen with hematocolpos. The patient underwent hymenotomy and her symptoms showed complete resolution. Imperforate hymen with hematocolpos is a rare congenital genital tract anomaly. The case highlights the importance of appropriate genital examination in pediatric patients. In the present case, the patient might have undergone an unnecessary abdominal surgery if the correct diagnosis was not established.

13.
Clin Ophthalmol ; 15: 2975-2980, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34285463

RESUMO

PURPOSE: To compare the visual and anatomic outcomes of aflibercept versus ranibizumab as a second line treatment for persistent diabetic macular edema (DME) after initial bevacizumab injections. METHODS: In this retrospective cohort study, patients with center-involved DME of ≥ 300 µm thickness after bevacizumab intravitreal injections in 2015-2019 were included. Those treated with ranibizumab (R) and aflibercept (A) were grouped as group R and group A, respectively. The change in central macular thickness (CMT) measured by optical coherence tomography (OCT) and the best corrected distance visual acuity (BCVA) before and after three-monthly anti-VEGF injections (anti-VEGF) in group R and group A were compared and reviewed. RESULTS: There were 80 eyes of 75 patients in group R and 80 eyes of 72 patients in group A. The initial bevacizumab injections in group R and group A varied significantly (p = 0.01). The median change of the CMT after the three injections was not significantly different in group R (80 µm) and group A (81.5µm) (p = 0.7). The improvement of BCVA in group R and group A was not significant (p = 0.5). Dry macula was noted in 1 vs 14 eyes in group R vs group A. CONCLUSION: After treating refractory DME with initial bevacizumab injections, 3 injections of either aflibercept or ranibizumab had similar anatomic and functional outcomes. Aflibercept achieved dry macula in more eyes with refractory DME compared to ranibizumab.

14.
Am J Case Rep ; 22: e931385, 2021 Jun 21.
Artigo em Inglês | MEDLINE | ID: mdl-34153023

RESUMO

BACKGROUND Melanocytoma is rare and can affect any part of the uveal tract. In rare cases, iris melanocytoma shows signs of growth, with extrascleral extension that mimics melanoma. This phenomenon makes clinical differentiation between the 2 pathologies particularly challenging. CASE REPORT A 3-year-old boy presented with recurrent ocular inflammation. Examination revealed a large, solid, homogenous mass in the inferior quadrants of the iris, with secondary localized corneal edema. The lesion did not extend to the ciliary body and fundus examination showed no lesions in the posterior segment, including the head of the optic nerve. The patient underwent a sectoral iridocyclectomy and excisional biopsy of the lesion in the iris. Histopathology of the lesion confirmed the diagnosis of iris melanocytoma. CONCLUSIONS The differential diagnosis for a mass in the iris is broad, ranging from benign cysts to melanoma, which is a life-threatening ocular condition. An iris melanocytoma always should be considered in the differential of these masses, despite their exceedingly low incidence. Although iris melanocytoma mainly manifests in patients who are middle-aged or older, it should be suspected in young children, as underscored by the present report.


Assuntos
Nevo Pigmentado , Neoplasias Cutâneas , Neoplasias Uveais , Pré-Escolar , Corpo Ciliar , Humanos , Iris , Masculino , Nevo Pigmentado/diagnóstico , Nevo Pigmentado/cirurgia
15.
Case Rep Ophthalmol Med ; 2021: 6641475, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33953998

RESUMO

BACKGROUND: Implantable collamer lens (ICL) might rarely cause complications that warrant explantation. Here, we presented a case of inverted ICL that has undergone explantation after a 10-year duration. Case Presentation. A 49-year-old male with past ocular history of ICL implantation 10 years ago presented complaining of progressive decrease of visual acuity in the left eye for a long time. On examination, decreased visual acuity, anterior subcapsular cataract, and low ICL vault were noted. The anterior segment optical coherence tomography (AS OCT) showed inverted ICL. The ICL was explanted, and cataract surgery was done. CONCLUSION: Inverted ICL should be kept in mind as a rare cause of long-term poor visual acuity in patient with a history of ICL surgery.

16.
Clin Ophthalmol ; 15: 1949-1955, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34007147

RESUMO

PURPOSE: To evaluate the outcome of pars plana vitrectomy (PPV) and combined pars plana vitrectomy with scleral buckle (PPV-SB) in the primary pediatrics rhegmatogenous retinal detachment repair. DESIGN: A retrospective cohort study. METHODS: A retrospective study was conducted in patients under 18 years of age, who presented with rhegmatogenous retinal detachment at King Khaled Eye Specialist Hospital between January 2014 and October 2018. Primary measurable outcomes were single surgery success rate (SSSR) and rate of postoperative complications. RESULTS: A total of 122 eyes of 117 patients were included in the study; 80 eyes in PPV group and 42 eyes in PPV-SB group. Mean follow-up period after surgery was 18.2 months ±11 months. SSSR was 76.3% (n=61) and 66.7% (n=28) for PPV and PPV-SB, respectively. No statistically significant difference was found between the two methods of RRD repair in single surgery success rate with an OR of 1.3 (P=0.45). Complication rates were comparable in both groups in the last follow-up. CONCLUSION: In this series, PPV and PPV-SB have comparable results in regard to anatomical success and rate of postoperative complications. More complicated cases were selected to undergo PPV-SB upon surgeons' preference.

17.
Clin Ophthalmol ; 15: 1465-1475, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33859472

RESUMO

PURPOSE: To study the effects of perioperative uveitis control (PUC) on postoperative intraocular pressure (IOP) and uveitis activity in uveitic glaucoma (UG) patients who required glaucoma surgeries. PATIENTS AND METHODS: A retrospective chart review of 109 patients (120 eyes) which had glaucoma surgery for UG. A total of 66 eyes which had PUC were compared to 54 eyes which did not have. Measurements of IOP and uveitis activity were recorded preoperatively and over 2 years postoperatively. Average number of antiglaucoma medications and frequency of surgical failure were obtained in both groups. RESULTS: Over 2 years postoperatively, average IOP was lower in eyes which had PUC. Significant differences in IOP were found at 3 months (P = 0.004), 6 months (P = 0.001), 1 year (P < 0.001), and 2 years (P < 0.001). Lower grades of anterior chamber (AC) inflammation were found in eyes which had PUC. Significant differences were found at 1 month (P < 0.001), 3 months (P < 0.001) and 6 months (P = 0.001). Mean number of antiglaucoma medications at last visit was 0.7 ± 1.1 for eyes which had PUC and 2.6 ± 1.5 for eyes which did not have PUC (P < 0.001). Among eyes which had PUC, only two eyes required second glaucoma surgeries, while 16 eyes with no PUC required further glaucoma surgeries after 27.7 ± 12.5 months (P < 0.001). CONCLUSION: Proper PUC in patients going for UG surgeries results in lower IOP levels and less AC inflammation over 2 years postoperatively. A comprehensive PUC regimen is needed for uveitic glaucoma patients going for surgeries.

18.
Ophthalmic Genet ; 42(2): 178-185, 2021 04.
Artigo em Inglês | MEDLINE | ID: mdl-33441055

RESUMO

Background: Coats-like retinal vasculopathy in retinitis pigmentosa (RP) is rare. This study describes its clinical spectrum, management outcomes and genetic associations in patients with autosomal recessive RP (arRP).Materials and methods: Retrospective review of ophthalmic, multimodal imaging, genetic findings and treatment outcomes of arRP patients who developed Coats-like features. Identification of patients included searching a retinal dystrophy registry of 798 patients.Results: Ten eyes of six patients with arRP (4 males, 2 females, mean age 33 years) demonstrated Coats-like features, namely inferotemporal peripheral retinal telangiectasis combined with unilateral inferotemporal vasoproliferative tumor (VPT) in 4 eyes. Exudative retinal detachment (ERD) developed in five eyes of which four had VPT. Ablation of the vasculopathy using retinal laser photocoagulation and/or cryotherapy in eight eyes, allowed ERD and/or lipid exudation to decrease in seven eyes despite incomplete vasculopathy regression. Additional intravitreal triamcinolone acetonide injection in one eye failed to regress the ERD and associated VPT. Observation in one eye caused increased exudation. Six mutations, including three novel mutations, were found in CRB1, CNGB1, RPGR, and TULP1.Conclusions: Coats-like features in arRP range from retinal telangiectasis to VPTs with extensive ERD and occur predominantly in the inferotemporal retinal periphery. In addition to their classic association with CRB1 mutations, other genes are implicated. To the best of our knowledge, this is the first report describing CNGB1 mutations in Coats-like RP. Awareness of the vasculopathy spectrum is important, and timely ablation of the vasculopathy with long-term monitoring is recommended to prevent additional visual loss in RP patients.


Assuntos
Crioterapia/métodos , Proteínas do Olho/genética , Fotocoagulação a Laser/métodos , Descolamento Retiniano/cirurgia , Vasculite Retiniana/cirurgia , Retinose Pigmentar/complicações , Doenças Vasculares/cirurgia , Adulto , Exsudatos e Transudatos , Feminino , Genes Recessivos , Humanos , Masculino , Mutação , Descolamento Retiniano/patologia , Vasculite Retiniana/etiologia , Vasculite Retiniana/patologia , Estudos Retrospectivos , Doenças Vasculares/etiologia , Doenças Vasculares/patologia
19.
Am J Case Rep ; 21: e925926, 2020 Sep 08.
Artigo em Inglês | MEDLINE | ID: mdl-32895362

RESUMO

BACKGROUND Retinal vasoproliferative tumor (VPT) is a type of ocular vascular tumor that commonly occurs idiopathically and can be associated with secondary ocular diseases. Ocular albinism is an X-linked inherited disease and distinguished from oculocutaneous albinism by less hair and skin involvement. CASE REPORT A 42-year-old man with ocular albinism and moderate myopia presented with a history of insidious decrease in vision in both eyes over a period of months. On examination, the horizontal pendular nystagmus was present and diffuse iris transillumination defects were observed bilaterally. A fundus examination revealed a depigmented fundus with visible choroidal vessels, foveal hypoplasia, and a unilateral, elevated, vascular lesion in the superotemporal aspect of the retinal periphery. Optical coherence tomography of the lesion confirmed the retinal location and fluorescein fundus angiography indicated its vascular nature. B-scan ultrasonography was performed to measure the dimensions of the lesion. CONCLUSIONS Rare retinal VPT has been reported with systemic and ocular associations, but it has never been reported in the literature in association with ocular albinism. Multiple treatment modalities have been described for the tumor, but observation can be considered in the absence of secondary consequences of the VPT. Retinal VPT should be included in the differential diagnosis of any retinal vascular abnormalities in patients with ocular albinism.


Assuntos
Albinismo Ocular , Albinismo Oculocutâneo , Adulto , Albinismo Ocular/diagnóstico , Angiofluoresceinografia , Fundo de Olho , Humanos , Masculino , Tomografia de Coerência Óptica
20.
Am J Ophthalmol Case Rep ; 19: 100780, 2020 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-32613137

RESUMO

PURPOSE: To report a severe phenotype of retinitis pigmentosa associated with novel mutations in CNGB1. OBSERVATIONS: Six siblings, age range 50-75 years old, were examined using optical coherence tomography and fundus autofluorescene, electroretinogram testing, Goldman visual field testing, and genetic testing using next generation sequencing.In four affected siblings, two novel compound heterozygous variants in CNGB1 were detected: in exon 26 the missense variant c.2603G > A (p.(Gly868Asp)), and in exon 21, the in-frame 12-bp duplication c.2093_2104dupGCGACCTCATCT (p.(Cys698_lle701dup)). One sibling was unaffected and carried neither of the variants, while another sibling had mild macular degeneration changes and carried the latter variant in heterozygous status. The affected siblings presented with a phenotype showing markedly constricted visual field, flat scotopic and photopic electroretinogram responses and generalized retinal atrophy. CONCLUSIONS AND IMPORTANCE: This is the first report of a 12bp in-frame duplication and a missense variant (in compound heterozygous status) in CNGB1, being associated with a severe form of retinitis pigmentosa featuring extensive peripheral and central retinal degeneration. This study expands the molecular genetic basis of CNGB1-related disease.

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