Ocular findings associated with FADD deficiency resemble familial exudative vitreoretinopathy.
作者信息
Meer Elana, Solanes Federica, Kohn Lisa, Kuo Caroline Y, Wong Derek A, Pineles Stacy, Tsui Irena
机构信息
University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.
Stein Eye Institute, Department of Ophthalmology, UCLA, USA.
出版信息
Am J Ophthalmol Case Rep. 2022 Feb 3;25:101305. doi: 10.1016/j.ajoc.2022.101305. eCollection 2022 Mar.
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.
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