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Article

Structural and genetic assessment of the ABCA4-associated optical gap phenotype.

Investigative ophthalmology & visual science - 9 Oct 2014

Nõupuu Kalev, Lee Winston, Zernant Jana, Tsang Stephen H, Allikmets Rando

Abstract excerpt

PURPOSE: To investigate the developmental stages and genetic etiology of the optical gap phenotype in recessive Stargardt disease (STGD1). METHODS: Single and longitudinal data points from 15 patients, including four sibling pairs, exhibiting an optical gap phenotype on spectral-domain optical coherence tomography (SD-OCT) with confirmed disease-causing ABCA4 alleles were retrospectively analyzed. Fundus images...

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Identifiers

PMID: 25301883
DOI: 10.1167/iovs.14-14674
PMCID: PMC4228863

Genes

ABCA4
RPE

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