Posters

Stargardt disease: about two familial cases

Poster Details

First Author: E.Hasnae MOROCCO

Co Author(s):    H. Essobai   N. Benchekroun   M. Belmekki              

Abstract Details

Purpose:

Stargardt's disease is a rare hereditary macular dystrophy of the early-onset pigmentary epithelium due to excess lipofuscin. Fundus flavimaculatus (FFM) is an entity of Stargardt's syndrome characterized clinically in its early stages by visual loss and by the presence of atrophic macular changes with or without the presence of yellowish flecks.

Setting:

Abulcasis international university of health sciences (UIASS) Cheikh Zaid university hospital, Department of ophthalmology, Rabat, Morocco

Methods:

We report the case of Two sisters, 17 and 15 years old, without pathological history, consulted for decreased visual acuity (VA). Diagnosis is secured by a combination of clinical findings, Funduscopic examination, optical coherence tomography (OCT) imaging. The finding of such familial macular disorders, should suggest the performing of genetic testing to identify this syndrome.

Results:

The ophthalmologic examination in both sisters showed: - A visual acuity of 3/10 in the right eye, 4/10 in the left eye. - The fundus examination : major chorioretinal alterations and macular atrophy. The imaging studies revealed : - OCT : bilateral foveolar and peri foveolar retinal atrophy. - Fluorescein angiography : macular atroph. - Electroretinography (ERG) : flat tracing in retinal periphery and anarchic bilateral tracing in flicker and photopic stimulation. - color vision test: dyschromatopsia. Those patients are equipped with photochromatic corrective lenses.

Conclusions:

Multiple clinically expressed Stargardt's disease may be asymptomatic for a long time and may result in the expression of early macular degeneration. Transmission is usually autosomal recessive. Diagnosis is based on a combination of clinical, ophthalmological and systemic arguments, supported by genetic testing.

Financial Disclosure:

None