Clinical Characteristics of Neuronal Intranuclear Inclusion Disease-Related Retinopathy With CGG Repeat Expansions in the NOTCH2NLC Gene

PURPOSE: To report the ocular characteristics of neuronal intranuclear inclusion disease (NIID)–related retinopathy with expansion of the CGG repeats in the NOTCH2NLC gene. METHODS: Seven patients from six families (aged 66–81 years) diagnosed with adult-onset NIID were studied. Ophthalmologic exami...

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Detalhes bibliográficos
Publicado no:Invest Ophthalmol Vis Sci
Main Authors: Nakamura, Natsuko, Tsunoda, Kazushige, Mitsutake, Akihiko, Shibata, Shota, Mano, Tatsuo, Nagashima, Yu, Ishiura, Hiroyuki, Iwata, Atsushi, Toda, Tatsushi, Tsuji, Shoji, Sawamura, Hiromasa
Formato: Artigo
Idioma:Inglês
Publicado em: The Association for Research in Vision and Ophthalmology 2020
Assuntos:
Retina
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7500143/
https://ncbi.nlm.nih.gov/pubmed/32931575
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1167/iovs.61.11.27
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