A male infant with a diagnosis of homocystinuria presented with avascularity of the peripheral retina with a ridge on ophthalmic exam, consistent with a FEVR-like manifestation homocystinuria. Upon follow-up and treatment for homocystinuria, the retinal vascularity improved without the need for prophylactic treatment to the peripheral avascular retina.
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http://dx.doi.org/10.1155/2014/646351 | DOI Listing |
J Vitreoretin Dis
April 2023
Department of Ophthalmology, Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, FL, USA.
To describe a case of microcephaly, unilateral retinal fold, and familial exudative vitreoretinopathy (FEVR)-like phenotype in the context of 2 variants. A case and its findings were analyzed. A 4-month-old boy with no family history of eye disease presented by referral for management of presumed persistent fetal vasculature in the left eye.
View Article and Find Full Text PDFTurk J Ophthalmol
June 2022
Başkent University Faculty of Medicine, Adana Research and Training Center, Department of Medical Genetics, Adana, Turkey.
Objectives: The aim of the study was to present a new genetic association presenting with gastrointestinal tract malformations (GTMs) and familial exudative vitreoretinopathy (FEVR)-like disease and review the genetics of Hedgehog signaling.
Materials And Methods: Three neonates were diagnosed with FEVR-like retinal vascular disease upon routine ophthalmological examination during hospitalization in the neonatal surgical intensive care unit for GTMs. Genetic analysis of the neonates was performed.
Am J Ophthalmol
March 2022
From the State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, Guangzhou 510060, China. Electronic address:
Purpose: To characterize ocular phenotypes in patients with CTNNB1, KIF11, or NDP variants.
Design: Retrospective case series.
Methods: Seventy-four patients from 59 unrelated families with CTNNB1, KIF11, and NDP variants were enrolled based on exome sequencing.
Medicine (Baltimore)
March 2021
Department of Ophthalmology, West China Hospital, Sichuan University, Chengdu, Sichuan Province.
Rationale: Familial exudative vitreoretinopathy (FEVR) is an inherited disorder, which is mostly reported to be associated with the mutation of genes involved in the Wnt signaling pathway related to β-catenin. To the best of our knowledge, the involvement of Adams-Oliver syndrome (AOS) genes in FEVR patients have not been reported before.
Patient Concerns: Two patients with FEVR presented with microcephaly.
J Pediatr Ophthalmol Strabismus
November 2017
A 7-year-old boy was diagnosed and treated for familial exudative vitreoretinopathy. Genetic testing revealed a 16p13.11 microdeletion and unbalanced translocation causing 11q deletion syndrome.
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