Multimodal imaging of white preretinal lesions in atypical familial exudative vitreoretinopathy: Case report and literature review.

Autor:	Redden LD; Dalhousie Medical School, Dalhousie University, Halifax, NS, Canada., Iaboni DSM; Department of Ophthalmology and Visual Sciences, Dalhousie University, Halifax, NS, Canada., van der Ende S; Department of Biochemistry & Molecular Biology, Dalhousie University, Halifax, NS, Canada., Nightingale M; Department of Pathology, Dalhousie University, Halifax, NS, Canada., Gaston D; Department of Pathology, Dalhousie University, Halifax, NS, Canada., McMaster CR; Department of Biochemistry & Molecular Biology, Dalhousie University, Halifax, NS, Canada.; Department of Pharmacology, Dalhousie University, Halifax, NS, Canada., Robitaille JM; Department of Ophthalmology and Visual Sciences, Dalhousie University, Halifax, NS, Canada.; Department of Pathology, Dalhousie University, Halifax, NS, Canada.; Department of Pediatrics, Dalhousie University, Halifax, NS, Canada., Gupta RR; Department of Ophthalmology and Visual Sciences, Dalhousie University, Halifax, NS, Canada.
Jazyk:	angličtina
Zdroj:	American journal of ophthalmology case reports [Am J Ophthalmol Case Rep] 2024 Apr 10; Vol. 34, pp. 102051. Date of Electronic Publication: 2024 Apr 10 (Print Publication: 2024).
DOI:	10.1016/j.ajoc.2024.102051
Abstrakt:	Purpose: To report a rare clinical finding of preretinal granules associated with atypical familial exudative vitreoretinopathy (FEVR) and perform a review of the literature. Observations: An asymptomatic 18-year-old male was referred for unilateral peripheral avascular retina evaluation in association with presumed FEVR. He was first noted to have white preretinal granules on fundus examination at five years of age. The lesions remained unchanged over the subsequent years. Genetic testing did not reveal a pathogenic or likely pathogenic variant in a known FEVR gene. A review of the literature revealed five other cases of FEVR with similar findings. Conclusions and Importance: Literature review suggests preretinal granules may present rarely in FEVR. Negative genetic screening of known FEVR genes in our patient with atypical FEVR suggests either a molecularly distinct etiology supporting the rarity of this association with FEVR or, alternatively, the presence of granules in developmental retinal vascular anomalies that are not specific to FEVR. Future study and genetic testing is necessary to better understand the cause of these preretinal granules and the clinical manifestations of FEVR. Competing Interests: The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper. (© 2024 Published by Elsevier Inc.)
Databáze:	MEDLINE
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