Idiopathic infantile nystagmus (IIN) is an inherited disorder occurring in the first 6 months of life, with no underlying retinal or neurological etiologies and is predominantly caused by mutations in the FRMD7 gene. IIN poses a diagnostic challenge as underlying pre-symptomatic “multisystem” disorders varying from benign to life-threatening should first be ruled out before nystagmus can be labeled as idiopathic. A multidisciplinary approach including multimodal ocular investigations and next-generation sequencing with whole-genome sequencing (WGS) or targeted gene panel testing is required to delineate the exact etiology. We report the clinical and genetic outcomes of 22 patients, from 22 unrelated families of diverse ethnicities, with IIN seen in the ocular genetics service at Moorfields Eye Hospital NHS Foundation Trust between 2016 and 2022. Thirty-six percent (8/22) received a confirmed molecular diagnosis with eight mutations identified in two genes (seven in FRMD7 including one novel variant c.706_707del; p. [Lys236Alafs*66], and one in GPR143). This study expands the mutational spectrum of IIN and highlights the significant role of an integrated care pathway and broader panel testing in excluding underlying pathologies.
Purpose To identify causes of visual acuity loss in open angle‐glaucoma (OAG) patients and to determine associated risk factors. Methods From the visual field database of the University Medical Center Groningen, 400 patients with at least 3 reliable visual fields were randomly selected. Of these, 233 had OAG. OAG patients with a visual acuity of 0.5 or less in at least one eye were considered as cases; controls had to have a visual acuity above 0.5 in both eyes. Causes of visual acuity loss were determined from the medical records. Potential risk factors for visual acuity loss in OAG (age, gender, myopia, baseline IOP, corneal thickness, and visual field mean deviation [MD]) were assessed by comparing cases with acuity loss due to OAG with the controls, using logistic regression. Results Of the 233 patients with OAG, 134 (57%) were cases and 99 (43%) controls. Concerning the cases, visual acuity loss was caused by OAG in 40%, cataract 17%, AMD 14%, vitreo‐retinal surgery 10%, corneal pathology 4.5%, acquired retinal disorders 10%, and neuro‐ophthalmological disorders 4.5%. Among the assessed risk factors, cases had a lower MD (OR=0.90; P<0.001) and a higher age (OR=1.05; P=0.015). Conclusion Visual acuity loss in OAG is common but mostly due to other eye co‐morbidities. A lower MD and an older age were highly significant risk factors.
Purpose To evaluate the influence of multifocal intraocular lenses (MFIOLs) on standard automated perimetry (SAP) and size V perimetry test results. Methods Sixteen eyes of 16 patients with a diffractive MFIOL (median age 64 years) and 45 phakic eyes of 45 healthy subjects (median age 49 years) were included in this cross‐sectional case‐control study. All eyes underwent (1) SAP with the Humphrey Field Analyzer using a 30‐2 grid and the Swedish Interactive Threshold Algorithm standard strategy and (2) a full threshold test with stimulus size V (instead of the default size III). Our Main Outcome Measures were the mean deviation (MD; for SAP) and mean sensitivity (MS; for both SAP and size V perimetry). Results The MD of the SAP test results was on average 2.18 dB lower in MFIOL patients than in controls (P<0.001). For all 16 cases and an age‐matched subgroup of 18 controls, this difference was 2.05 dB (P=0.001). The age‐adjusted difference in MS between cases and controls was ‐2.34 dB (P<0.001). For size V perimetry, this was ‐1.67 dB (P<0.001). For a subset of test locations within 10 degree eccentricity, the age‐adjusted difference in MS between cases and controls was ‐2.35 dB for size III (P<0.001) and ‐1.96 dB for size V perimetry (P<0.001). Conclusion Patients with a diffractive MFIOL have a clinically relevant reduction of the visual sensitivity as assessed with SAP and size V perimetry.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.
hi@scite.ai
10624 S. Eastern Ave., Ste. A-614
Henderson, NV 89052, USA
Copyright © 2024 scite LLC. All rights reserved.
Made with 💙 for researchers
Part of the Research Solutions Family.