Article
Peripapillary sparing in RDH12-associated Leber congenital amaurosis.
Ophthalmic genetics - 1 Dec 2017
Garg Aakriti, Lee Winston, Sengillo Jesse D, Allikmets Rando, Garg Kartik, Tsang Stephen H
Abstract excerpt
BACKGROUND: Peripapillary sparing is a characteristic that is traditionally described as pathognomonic for Stargardt disease. MATERIALS AND METHODS: We present a multimodal assessment of four Leber congenital amaurosis (LCA) cases with congenital macular atrophy and severely attenuated electroretinogram findings caused by bilallelic mutations in RDH12. RESULTS: Fundus autofluorescence imaging revealed a general...
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