Aakriti Garg1, Winston Lee1,2,3, Jesse D Sengillo1,3,4, Rando Allikmets1,2, Kartik Garg3, Stephen H Tsang1,2,3. 1. a Department of Ophthalmology , College of Physicians and Surgeons, Columbia University , New York , New York , USA. 2. b Department of Pathology and Cell Biology , College of Physicians and Surgeons, Columbia University , New York , New York , USA. 3. c Jonas Children's Vision Care and Bernard & Shirlee Brown Glaucoma Laboratory , Columbia University Medical Center , New York , New York , USA. 4. d State University of New York Downstate Medical Center , Brooklyn , New York , USA.
Abstract
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 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. CONCLUSIONS: Peripapillary sparing is a novel phenotypic feature of RDH12-associated LCA.
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 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. CONCLUSIONS: Peripapillary sparing is a novel phenotypic feature of RDH12-associated LCA.
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