Dr.Sahil Sarpal, Dr.Sahil Sarpal, Dr.SARPAL KAMAL SAROOP
Introduction : Stargardt disease is a form of juvenile macular degeneration. Most often, it is caused by mutations in the ABCA4 gene and is recessively inherited. STGD accounts for about 7% of all retinal degenerations, grossly affecting 1 per 10.000 individuals.
Material and Method : We report a Case of bilateral, juvenile Stargardt’s disease in a 16 year-old patient with possible familial predilection. Routine slit lamp examination, fundus photography, autofluorescence, OCT and perimetry was done.
Discussion : Mutations in the ABCA4 gene prevent the ABCA4 protein from removing toxic byproducts from photoreceptor cells. These toxic substances build up and form lipofuscin in the photoreceptor cells and the surrounding cells of the retina.
Conclusion : Stargardt disease remains an incurable condition. Current therapeutic options include photopotection and low vision aid.
Keywords : Stargardt’s disease, macular degeneration, ABCA4, ophthalmological findings
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