Stargardt disease 1

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Stargardt disease 12016-11-28T06:20:18+00:00

Stargardt disease 1  

Stargardt disease 1 image from New Medical Terms

Stargardt disease 1

OPHTHALMOLOGY 

Definition A form of hereditary macular degeneration (OMIM:248200) characterised by juvenile onset of slowly progressive bilateral loss of central vision, atrophy of the macula and underlying retinal pigment epithelium, pisciform subretinal yellowish lesions in the posterior pole of the retina and eventually, legal blindness.

Molecular pathology Defects of ABCA4—which encodes an ATP-binding cassette—ABC transporter that transports all-trans-retinaldehyde/vitamin A and other essential molecules across the photoreceptor cell membrane—cause Stargardt disease type 1.

Synonyms Macular degeneration—juvenile, macular dystrophy—with flecks, Stargardt-Behr disease, Stargardt’s macular atrophy, Stargardt’s macular dystrophy, Stargardt syndrome

References http://www.uniprot.org/uniprot/P78363

http://www.omim.org/entry/248200

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