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Yiyun Zhou, Antonie D. Kline, Mary L. Collins, Marcia Ferguson, Jennifer Billiet, Alex V. Levin; Clinical Ophthalmic Findings in Children with Alström Syndrome. Invest. Ophthalmol. Vis. Sci. 2022;63(7):4461 – A0171.
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© ARVO (1962-2015); The Authors (2016-present)
Alström syndrome is a rare autosomal recessive disorder affecting multiple systems including the eyes. Despite knowing the causative gene, ALMS1, the spectrum of its clinical manifestations has not been fully characterized, which has been a challenge due to the great variability of presentation, reduced life expectancy, and the less-than-one-per-million prevalence of this disease. This study aims to summarize the clinical ophthalmic findings in children with Alström syndrome using data from the largest known existing cohort, and to familiarize ophthalmologists with these findings.
Thirty patients of all ages with a known diagnosis of Alström syndrome participated at biannual multidisciplinary Alström syndrome clinics (2015 – 2020) at a centralized academic center. These patients received comprehensive eye examination by a pediatric ophthalmologist. Clinical data were then extracted and summarized from the charts.
Twenty-five pediatric patients had a median age of 7, ranging from 15 months to 16 years. Among these children, nystagmus (22/25) and photophobia (22/25) are not only the most commonly documented ophthalmic findings, but also the most common first presenting symptoms. Retinal vascular attenuation (19/25) and retinal internal limiting membrane changes (15/25) are the most commonly documented retinal findings. In contrast, only 2 children had documented retinal pigment clumps. Previous misdiagnoses included achromatopsia, cone-dystrophy, cone-rod dystrophy, retinitis pigmentosa, and spasmus nutans.
We believe that knowledge of these clinical findings would benefit ophthalmologists to better recognize this potentially vision-threatening and life-threatening condition.
This abstract was presented at the 2022 ARVO Annual Meeting, held in Denver, CO, May 1-4, 2022, and virtually.
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