Article
Ocular Phenotype of a Family with FAM161A-associated Retinal Degeneration.
Ophthalmic genetics - 1 Jan 2016
Duncan Jacque L, Biswas Pooja, Kozak Igor, Navani Mili, Syed Reema, Soudry Shiri, Menghini Moreno, Caruso Rafael C, Jeffrey Brett G, Heckenlively John R, Reddy G Bhanuprakash, Lee Pauline, Roorda Austin, Ayyagari Radha
Abstract excerpt
BACKGROUND: Characterization of retinal degeneration (RD) using high-resolution retinal imaging and exome sequencing may identify phenotypic features that correspond with specific genetic defects. MATERIALS AND METHODS: Six members from a non-consanguineous Indian family (three affected siblings, their asymptomatic parents and an asymptomatic child) were characterized clinically, using visual acuity, perimetry,...
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