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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
medicine
Ocular findings associated with FADD deficiency resemble familial exudative vitreoretinopathy
American Journal of Ophthalmology Case Reports, Volume 25, Article 101305, Year 2022
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Description
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 retinal ischemia in both eyes and progression to tractional retinal detachment in the right eye. Conclusions and Importance: This case suggests that baseline and annual ophthalmic screening may be beneficial in individuals with FADD mutations. However, greater documentation of cases may be necessary before deriving a clear interval screening recommendation. © 2022 The Authors
Authors & Co-Authors
Kuo, Caroline Y.
United States, Los Angeles
University of California, Los Angeles
Wong, Derek A.
United States, Los Angeles
University of California, Los Angeles
Statistics
Citations: 2
Authors: 2
Affiliations: 2
Identifiers
Doi:
10.1016/j.ajoc.2022.101305
ISSN:
24519936
Research Areas
Cancer
Genetics And Genomics
Health System And Policy
Participants Gender
Male