Stargardt disease
Genetic form of macular degeneration / From Wikipedia, the free encyclopedia
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Stargardt disease is the most common inherited single-gene retinal disease.[1] In terms of the first description of the disease,[2] it follows an autosomal recessive inheritance pattern, which has been later linked to bi-allelic ABCA4 gene variants (STGD1). However, there are Stargardt-like diseases with mimicking phenotypes that are referred to as STGD3 and STGD4, and have a autosomal dominant inheritance due to defects with ELOVL4 or PROM1 genes, respectively. It is characterized by macular degeneration that begins in childhood, adolescence or adulthood, resulting in progressive loss of vision.[3]
Quick Facts Other names, Specialty ...
Stargardt disease | |
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Other names | Stargardt macular dystrophy & degeneration, juvenile macular degeneration, fundus flavimaculatus |
Optical coherence tomography is used for diagnosis of Stargardt's disease. | |
Specialty | Ophthalmology |
Symptoms | Loss of central vision, low visual acuity |
Usual onset | Childhood |
Duration | Lifelong |
Causes | Genetic |
Diagnostic method | Slit lamp |
Treatment | None |
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