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Stargardt Phenotype Associated With Two ELOVL4 Promoter Variants and ELOVL4 Downregulation: New Possible Perspective to Etiopathogenesis?

Investigative ophthalmology & visual science - 1 Feb 2018

Donato Luigi, Scimone Concetta, Rinaldi Carmela, Aragona Pasquale, Briuglia Silvana, D'Ascola Angela, D'Angelo Rosalia, Sidoti Antonina

Abstract excerpt

Purpose: Stargardt disease (STGD) is the most common form of inherited juvenile macular degeneration. It is inherited as autosomal recessive trait (STGD1), although STGD3 and STGD4 are inherited as autosomal dominant inheritance pattern. STGD3 is caused by mutations in the elongation of very long-chain fatty acids-like 4 (ELOVL4) gene encoding for a very long-chain fatty acid elongase. Mutations lead to a...

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PMID: 29417145
DOI: 10.1167/iovs.17-22962

Genes

ELOVL4

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Stargardt Phenotype Associated With Two ELOVL4 Promoter Variants and ELOVL4 Downregulation: New Possible Perspective to Etiopathogenesis?PMID 29417145Read ↗

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