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A rare case of medulloepithelioma of the ciliary body is described. The tumour necessitated enucleation of the eye; histopathological diagnosis was benign nonteratoid medulloepithelioma of the ciliary body

Retinal arterial macroaneurysms with supravalvular pulmonic stenosis (RAMSVPS), also known as Familial Retinal Arterial Macroaneurysms (FRAM) syndrome, is a very rare multisystem disorder. Here, we present a case series comprising ophthalmologic and systemic evaluation of patients homozygous for RAMSVPS syndrome causative IGFBP7 variant. New clinical details on 22 previously published and 8 previously unpublished patients are described. Age at first presentation ranged from 1 to 34 years. The classical feature of macroaneurysms and vascular beading involving the retinal arteries was universal. Follow up extending up to 14 years after initial diagnosis revealed recurrent episodes of bleeding and leakage from macroaneurysms in 55% and 59% of patients, respectively. The majority of patients who underwent echocardiography (18/23) showed evidence of heart involvement, most characteristically pulmonary (valvular or supravalvular) stenosis, often requiring surgical correction (12/18). Four patients died in the course of the study from complications of pulmonary stenosis, cerebral hemorrhage, and cardiac complications. Liver involvement (usually cirrhosis) was observed in eight patients. Cerebral vascular involvement was observed in one patient, and stroke was observed in two. We conclude that RAMSVPS is a recognizable syndrome characterized by a high burden of ocular and systemic morbidity, and risk of premature death. Recommendations are proposed for early detection and management of these complications. [ABSTRACT FROM AUTHOR]

Abstract: Fundus autofluorescence (FAF) is a non‐invasive retinal imaging modality used in clinical practice to non‐invasively map changes at the level of the retinal pigment epithelium (RPE)/photoreceptor complex and alterations of macular pigment distribution. This imaging method is based on the visualization of intrinsic fluorophores and may be easily and rapidly used in routine patient care. Excessive accumulation of lipofuscin granules in the lysosomal compartment of RPE cells represents a common downstream pathogenic pathway in various hereditary and complex retinal diseases. The clinical applications of FAF continue to expand. It is now an essential tool for evaluating macular dystrophies and various hereditary retinal disorders. Fundus autofluorescence (FAF) may detect abnormalities beyond those detected on funduscopic examination, fluorescein angiography (FA) or optical coherence tomography (OCT). Fundus autofluorescence (FAF) imaging is particularly helpful for differential diagnosis, detection and extent delineation of involved retinal areas, genotype‐phenotype correlations and monitoring of changes overtime. Given its ease of use, non‐invasive nature and value in characterizing retinal disease, FAF enjoys increasing clinical relevance. This review summarizes basic principles and FAF findings in various hereditary retinal diseases. [ABSTRACT FROM AUTHOR]

Purpose: To investigate the outcomes of pars plana vitrectomy (PPV) for chronic diabetic traction macular detachment (CTMD). Methods: Ninety-six eyes that underwent PPV for CTMD of at least 6 months duration were retrospectively analyzed. Retinal reattachment rate, final vision, and prognostic factors for poor visual outcome were the main outcome measures. Results: All eyes had long-standing TMD (median 12, range: 6-70 months). The median postoperative follow-up was 15 (range: 3-65) months. Eighty-seven eyes (90.6%) had their retina and macula reattached after one PPV. At final examination, 84 eyes (87.5%) had stable vision or at least one line improvement, and three had no light perception. Seventeen (17.7%) and 41 (43%) eyes had preoperative visual acuity of ⩾20/200 and ⩾5/200 as compared to 40 (41.6%; P=0.0005) and 64 (66.7%; P=0.0014) eyes at final follow-up, respectively. Age >50 years (Odds ratio [OR] =5.84, 95% confidence interval [CI] =1.53-22.19, P=0.01), preoperative vision <20/400 (OR =7.012, 95% CI =1.82-26.93, P=0.005), and ischemic macula (OR =14.13, 95% CI =3.61-55.33, P<0.001) were significantly associated with final vision <20/400. Conclusion: PPV for CTMD may be beneficial particularly in patients who are relatively younger and have good baseline vision and no macular ischemia. [ABSTRACT FROM AUTHOR]

Perfluoro-n-octane (PFO) is commonly used in vitreoretinal surgery. In this case report, we present a 35-year-old patient with retained PFO up to 9 years after par plana vitrectomy. Post-operatively, PFO bubbles occupied 15% of the anterior chamber (AC). Follow-up over 9 years, consistently showed a quiet AC, normal intraocular pressure and endothelial cell counts remained stable. Until date, the patient has been under observation and there have been no ocular symptoms or side-effects. Residual PFO that inadvertently remains in the AC can be well- tolerated, without side-effects for up to 9 years. [ABSTRACT FROM AUTHOR]

Objective and Design: A retrospective review study was designed to describe five cases of optic disc melanocytomas with tumor-related visual impairment. Participants: Five patients with optic disc melanocytoma presented with visual complaints to a tertiary eye hospital in Saudi Arabia. Materials and Methods: Demographic and clinical data were analyzed, including the results of ocular examination, lesion laterality, best-corrected Snellen visual acuity, pupillary reflex, visual field testing, color fundus photography, fundus fluorescein angiography, and ophthalmic ultrasound. Results: Visual dysfunction secondary to optic disc melanocytoma was identified. Case 1 had macular star edema with mild tumor enlargement, Case 2 had optic atrophy, Case 3 had juxtapapillary choroidal neovascular membrane with macular involvement, Case 4 had optic disc swelling with an enlarged blind spot, and Case 5 had a large altitudinal visual field defect. Conclusion: Although melanocytomas of the optic disc tend to have a benign behavior with slow evolution and stable vision, they may adversely affect visual function through a variety of mechanisms. [ABSTRACT FROM AUTHOR]

Retinal dystrophy (RD) is a heterogeneous group of hereditary diseases caused by loss of photoreceptor function and contributes significantly to the etiology of blindness globally but especially in the industrialized world. The extreme locus and allelic heterogeneity of these disorders poses a major diagnostic challenge and often impedes the ability to provide a molecular diagnosis that can inform counseling and gene-specific treatment strategies. In a large cohort of nearly 150 RD families, we used genomic approaches in the form of autozygome-guided mutation analysis and exome sequencing to identify the likely causative genetic lesion in the majority of cases. Additionally, our study revealed six novel candidate disease genes (C21orf2, EMC1, KIAA1549, GPR125, ACBD5, and DTHD1), two of which (ACBD5 and DTHD1) were observed in the context of syndromic forms of RD that are described for the first time. [ABSTRACT FROM AUTHOR]

Purpose: This work aims to assess the value of intravitreal triamcinolone acetonide (IVTA) as an adjunctive therapy in advanced Coats disease with exudative retinal detachment (ERD)., Methods: A retrospective review was conducted of patients with Coats disease stage 3 or higher who received IVTA to decrease subretinal fluid (SRF), facilitate retinal ablative therapy, and avoid surgical drainage. Primary outcomes were SRF resolution and avoidance of surgical SRF drainage., Results: Seventeen eyes of 17 patients (mean, [SD] age, 3.9 [3.4] years) met the inclusion criteria. ERD configuration was bullous in 7 and shallow in 10 eyes. Following a single IVTA injection, ablative therapy was achieved after a mean (SD) of 2.1 (3.0) weeks. Complete SRF resolution was observed in 13 eyes (76.4%) after a mean of 1.3 IVTA injections and a mean of 2 (SD, 1.27) laser sessions, and none of these eyes required SRF drainage up to last follow-up (mean [SD], 50.5 [26.24] months). In 4 eyes with bullous ERD at presentation, SRF persisted ( P = .015) despite additional measures including surgical drainage. Final visual acuity ranged from 20/100 to no light perception. Cataract developed in 12 of the 17 eyes (70.5%). None developed an increase in intraocular pressure at final follow-up., Conclusions: IVTA injection can be a helpful adjunctive modality to address SRF in advanced Coats disease. It may obviate the need to surgically drain SRF to effectively treat the condition, particularly when the ERD is not highly bullous., Competing Interests: The author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article., (© The Author(s) 2021.)

Objective: To present the epidemiologic profile and magnitude of ocular malignant tumors (MT) representative of the Saudi population from the Tumor Registry (TR) at King Khaled Eye Specialist Hospital (KKESH)., Methods: This study evaluated the demographic information, clinical features including tumor laterality, ocular tissue of origin, and diagnosis of patients from the TR registry between 1983 and 2012 at KKESH, Riyadh, Kingdom of Saudi Arabia. The incidence of MT among Saudi adults (>/= 15 years old), and children (<15 years old) was estimated., Results: The TR recorded 4,146 neoplasms (2,509 [60.5%] benign tumors, and 1,637 [39.5%] MT). The incidence of MT in children was 3.6 per million/year (M/Y), and 2.4/M/Y for adults. Retinoblastoma (Rb) (n=763, 91%) was the most common ocular malignancy in children. In adults, the most common MT was squamous cell carcinoma (SCC) (n=363, 45.8%), basal cell carcinoma (BCC) (n=186, 23%), uvealmelanoma (n=94, 11.9%), sebaceous gland carcinoma (n=54, 6.8%), lymphomas (orbital, adnexal) (n=46, 5.8%), and others (n=53, 6.8%). The Rb (7.7/M/Y in <5 years old Saudi children) was less frequent than that reported in some Gulf countries, but higher than that reported from the West. The SCC was less frequent in countries with comparable sun exposure than in other continents, but the incidence remained unchanged over 3 decades. There was a significant increase in BCC between 1983-1992 and 2003-2012., Conclusion: The rates of all cancers remained stable over 3 decades except BCC, which showed a significant rise.

Purpose: Leber congenital amaurosis (LCA) is one of the most severe eye dystrophies characterized by severe vision loss at an early stage and accounts for approximately 5% of all retinal dystrophies. The purpose of this study was to identify a novel LCA disease allele or gene and to develop an approach combining genetic mapping with whole exome sequencing., Methods: Three patients from King Khaled Eye Specialist Hospital (KKESH205) underwent whole genome single nucleotide polymorphism genotyping, and a single candidate region was identified. Taking advantage of next-generation high-throughput DNA sequencing technologies, whole exome capture sequencing was performed on patient KKESH205#7. Sanger direct sequencing was used during the validation step. The zebrafish model was used to examine the function of the mutant allele., Results: A novel missense mutation in Bardet-Biedl syndrome 4 protein (BBS4) was identified in a consanguineous family from Saudi Arabia. This missense mutation in the fifth exon (c.253G>C;p.E85Q) of BBS4 is likely a disease-causing mutation as it segregates with the disease. The mutation is not found in the single nucleotide polymorphism (SNP) database, the 1000 Genomes Project, or matching normal controls. Functional analysis of this mutation in zebrafish indicates that the G253C allele is pathogenic. Coinjection of the G253C allele cannot rescue the mislocalization of rhodopsin in the retina when BBS4 is knocked down by morpholino injection. Immunofluorescence analysis in cell culture shows that this missense mutation in BBS4 does not cause obvious defects in protein expression or pericentriolar localization., Conclusions: This mutation likely mainly reduces or abolishes BBS4 function in the retina. Further studies of this allele will provide important insights concerning the pleiotropic nature of BBS4 function.

Leber congenital amaurosis (LCA) and juvenile retinitis pigmentosa (RP) are the most common hereditary causes of visual impairment in infants and children. Using homozygosity mapping, we narrowed down the critical region of the LCA3 locus to 3.8 Mb between markers D14S1022 and D14S1005. By direct Sanger sequencing of all genes within this region, we found a homozygous nonsense mutation in the SPATA7 gene in Saudi Arabian family KKESH-060. Three other loss-of-function mutations were subsequently discovered in patients with LCA or juvenile RP from distinct populations. Furthermore, we determined that Spata7 is expressed in the mature mouse retina. Our findings reveal another human visual-disease gene that causes LCA and juvenile RP.