Visual acuity and retinal function in patients with Bardet-Biedl syndrome.

Clinics
Adriana BerezovskySolange Rios Salomão

Abstract

Bardet-Biedl syndrome is a genetic, multisystem disorder that causes severe visual impairment. This condition is characterized by retinal dystrophy, obesity, digit anomalies, renal disease, and hypogonadism. The purpose of this study was to analyze visual acuity and full-field electroretinogram findings in patients with the Bardet-Biedl syndrome phenotype. The visual acuity of a group of 23 patients (15 males) with ages ranging from 6-36 years (mean = 15.8 ± 6.4; median = 14.7) was assessed. Retinal function was evaluated by full-field electroretinography, and dark-adapted thresholds were assessed. Visual acuity in the better-seeing eye was 20/40 or better in 5 patients (21.7%), 20/50-20/150 in 13 (56.5%) patients, 20/200-20/400 in 2 (8.7%) patients and worse than 20/400 in one (4.3%) patient. The mean acuity in the better-seeing eye was 0.7 ± 0.6 logMAR (20/100, Snellen equivalent). Scotopic rod and maximal responses were nondetectable in 21 (91.3%) patients, and cone responses were non-detectable in 15 (65.2%) patients. Elevated dark-adapted visual thresholds were observed in all 19 patients who were able to be assessed, with 10 (52.6%) patients having thresholds greater than 30 dB. In a relatively young cohort of patients wi...Continue Reading

Citations

Aug 30, 2014·Retina·Alastair K DennistonMarie D Tsaloumas
May 26, 2020·International Ophthalmology·Tianchang TaoGenlin Li
Mar 30, 2021·Frontiers in Cell and Developmental Biology·Xiaohong MengShiying Li
Apr 10, 2021·Ophthalmic & Physiological Optics : the Journal of the British College of Ophthalmic Opticians (Optometrists)·Amithavikram R HathibelagalJohn L Barbur
Jun 16, 2021·Orphanet Journal of Rare Diseases·Jeremy PomeroyRobert M Haws

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