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Ocular findings associated with FADD deficiency resemble familial exudative vitreoretinopathy

PURPOSE: We report the first known case of eye findings associated with a Fas-associated protein with death domain (FADD) gene mutation, an exceedingly rare entity. OBSERVATIONS: A 7-year-old boy was referred for decreased vision and eye examination revealed cystoid macular edema and peripheral reti...

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Detalles Bibliográficos
Autores principales: Meer, Elana, Solanes, Federica, Kohn, Lisa, Kuo, Caroline Y., Wong, Derek A., Pineles, Stacy, Tsui, Irena
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8859737/
https://www.ncbi.nlm.nih.gov/pubmed/35243129
http://dx.doi.org/10.1016/j.ajoc.2022.101305