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[The molecular genetic and clinical findings in two probands with Stargardt disease].

Ceska a slovenska oftalmologie : casopis Ceske oftalmologicke spolecnosti a Slovenske oftalmologicke spolecnosti - 1 Dec 2014

Kousal B, Záhlava J, Vejvalková Š, Hejtmánková M, Lišková P

Abstract excerpt

PURPOSE: The aim of our study was to describe the phenotype and to perform molecular genetic investigation in two probands of Czech origin diagnosed with Stargardt disease (STGD). METHODS: Both males underwent ocular examination including assessment by high-resolution spectral domain optical coherence tomography (SD-OCT). DNA was isolated from venous blood. Mutation detection was performed using the ABCA4...

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PMID: 25640233

Genes

ABCA4

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