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Peripapillary sparing in RDH12-associated Leber congenital amaurosis

BACKGROUND: Peripapillary sparing is a characteristic that is traditionally described as pathognomonic for Stargardt disease. MATERIALS AND METHODS: We present a multi-modal assessment of four f Leber Congenital Amaurosis (LCA) cases with congenital macular atrophy and severely attenuated electroret...

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Vydáno v:Ophthalmic Genet
Hlavní autoři: Garg, Aakriti, Lee, Winston, Sengillo, Jesse D., Allikmets, Rando, Tsang, Stephen H.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2017
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6314194/
https://ncbi.nlm.nih.gov/pubmed/28513254
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1080/13816810.2017.1323339
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