Stargardt disease

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One of the most frequent causes of macular degeneration in childhood. Stargardt disease-1 (fundus flavimaculatus) is an autosomal recessive disorder caused by mutation in the retina-specific ABC transporter-A4 or the cyclic-nucleotide gated ion channel β4. Yellow or white pigment is deposited in the pigmented retinal epithelium, even though ABC-A4 is in rods. Visual acuity is seriously diminished but peripheral visual fields remain normal throughout life. Fundus albipunctatus is an allelic variant of Stargardt disease-1 with mutations in ABC-A4 and peripherin-2 and onset later in life. Stargardt-2 was thought to map to chromosome 13q but subsequently turned out to be Stargardt-3. Stargardt disease-3 (autosomal macular degeneration with flecks type 3) is caused by mutation in the ELOVL4 gene on chromosome 6 (elongation of very long-chain fatty acids-like 4). A locus for autosomal dominant Stargardt disease-4 has been mapped to chromosome 4.

Subjects: Medicine and Health.

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