PurposeWe studied the validity, usefulness, and relative cost to detect diabetic retinopathy (DR) and sight-threatening DR (STDR) by using a hand-held electrophysiologic tool compared to digital fundus photography.MethodPatients with diabetes attending the screening unit of King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia were evaluated by “RETeval”, Amsler grid, and digital dilated fundus photography. Fundus images were evaluated by a retina specialist to determine grade of DR. The sensitivity and specificity of STDR and DR screening compared to photography were calculated, as well as “RETeval” combined with Amsler grid testing. The area under the curve (AUC) of “RETeval” screening outcome was calculated.ResultWe analyzed data of 400 diabetic patients. The prevalence of DR of any grade was 48.8% (95% confidence interval [CI], 43.9–53.7) while the prevalence of STDR was 27% (95% CI, 22.6–31.4). The outcome of RETeval test was “fail” (based on 20 μV or more amplitude of electrophysiologic spikes) in 351 (87.8%; 95% CI, 84.5–91.0) eyes. The sensitivity of the device was 95.4% and the specificity was 17.5%. Thus, the sensitivity of sequential testing with RETeval and Amsler grid test was 30.1% and the specificity was 80.1%. The AUCs for STDR and DR in general were 76.6% and 50.6%, respectively.Conclusions“RETeval” is a rapid screening device with excellent sensitivity for detecting STDR. It has potential as a first level screening tool to detect patients who require further evaluation.Translational RelevanceRetinal function, such as electrophysiology, can be used as a new concept for screening for DR.

To report novel mutations in two Saudi children with clinical features of Leber congenital amaurosis (LCA) and Alström syndrome. Case reports. Case 1 was a child with phenotypic features of LCA including oculodigital sign, bilateral enophthalmos, nystagmus, pale disc, and retinal changes. Direct sequencing of the coding sequence of GUCY2D revealed a missense mutation affecting highly conserved position (c. 743C > T; p.S248 L). Case 2 describes a girl with marked nystagmus, photophobia, and retinal changes in both eyes with short and stubby fingers tapering at the distal phalanges. The electroretinograms were nonrecordable in each eye. She had a hearing aid in the left ear, mid-facial hypoplasia, bilateral enophthalmos, and insulin dependent diabetes. Mutation screening of candidates genes revealed a pathogenic mutation in ALMS1 gene (c. 8441C > A, p.S2814*). Two novel mutations causing phenotypic LCA and Alström syndrome in Saudi patients from consanguineous families expand the genotypic spectrum of congenital retinal dystrophies

ObjectiveThe Aurolab aqueous drainage implant (AADI) has the potential advantages of less encapsulation and greater cost-effectiveness than the Ahmed glaucoma valve (AGV). The aim of this study was to compare the surgical success and outcomes of the AADI compared to the AGV in Middle-Eastern children.MethodsA comparative retrospective study of consecutive paediatric patients in a tertiary eye hospital was undertaken. Data collected included demographics, type of glaucoma, intraocular pressure (IOP), number of anti-glaucoma medications (AGMs) and any subsequent complications or further surgeries.AnalysisThe mean IOP, number of AGMs, surgical success and number of reoperations was compared for the two groups. Surgical success at each visit was defined as IOP of ≥6 mm Hg and ≤21 mm Hg or if the reduction of IOP was ≥20% reduced from baseline.ResultsA total of 126 tube surgeries (56 eyes in AADI and 70 eyes in AGV) were performed in patients aged ≤18 years from 2014 to 2019. No difference was observed in the mean IOP between the two groups except at the first month post-operative visit. After six months, the AADI group had a consistently significant lower mean number of AGMs. At last follow-up, 21 (37.5%) eyes in the AADI group were glaucoma medication-free vs 15 (21.4%) eyes in the AGV group (pp=0.047). Kaplan-Meier analysis showed equivalent cumulative probability of success at two years of 69.9% [(45.9%–84.9%)] for AADI vs 66.8% [(53.4%–77.1%])) for the AGV, respectively. Twenty-four eyes in the AGV group needed one or more subsequent surgeries, whereas 13 eyes needed one or more surgery in the AADI group.ConclusionsThis study shows an acceptable safety profile for the AADI in children, with a rate of failure that is comparable to the AGV, but less need for glaucoma re-operation or glaucoma medication in the first post-postoperative year.

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