Articles with "abca4 mutation" as a keyword



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Childhood cone–rod dystrophy with macular cyst formation in ABCA4 mutation identified by serial spectral-domain optical coherence tomography

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Published in 2021 at "Taiwan Journal of Ophthalmology"

DOI: 10.4103/tjo.tjo_54_20

Abstract: Cone–rod dystrophy (CORD) is a type of progressive hereditary retinal dystrophies that causes cone predominant photoreceptor degeneration characterized by wide genotypic and phenotypic heterogeneity. Macular cyst (MC) occurs very infrequently in the pediatric age group… read more here.

Keywords: macular cyst; serial spectral; abca4 mutation; rod dystrophy ... See more keywords