Peripapillary sparing in RDH12-associated Leber congenital amaurosis

Ophthalmic Genetics
Aakriti GargStephen H Tsang

Abstract

Peripapillary sparing is a characteristic that is traditionally described as pathognomonic for Stargardt disease. 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. Fundus autofluorescence imaging revealed a general loss of retinal pigment epithelium across the macula except for the peripapillary region in both eyes of all patients. Spectral domain-optical coherence tomography confirmed relative preservation in this area along with retinal thinning and excavation throughout the rest of the macula. LCA was diagnosed based on clinical exam and retinal imaging, and subsequently confirmed with genetic testing. Peripapillary sparing is a novel phenotypic feature of RDH12-associated LCA.

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Citations

Aug 4, 2018·Retina·Koushik Tripathy, Tomas S Aleman
Aug 20, 2019·Ophthalmic Genetics·Shawn PhilipLawrence A Yannuzzi
Mar 17, 2020·Ophthalmic Genetics·Ruben JaureguiStephen H Tsang
Aug 14, 2020·Ophthalmic Genetics·Rola Ba-AbbadMichel Michaelides
Jun 27, 2019·Human Gene Therapy·Kecia L FeathersDebra A Thompson
Apr 13, 2020·Progress in Retinal and Eye Research·Frans P M CremersRando Allikmets
Sep 11, 2019·Experimental Eye Research·Hajrah Sarkar, Mariya Moosajee
May 26, 2021·The British Journal of Ophthalmology·Manickam Nick MuthiahMichel Michaelides
Aug 26, 2021·Drug Design, Development and Therapy·Jiaxin BianMing Qi

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