Article
PHENOTYPIC HETEROGENEITY IN A FAMILY WITH X-LINKED FAMILIAL EXUDATIVE VITREORETINOPATHY WITH PREVENTION OF VISUAL LOSS IN AN AFFECTED MALE CHILD WITH LASER TREATMENT IN INFANCY.
Retinal cases & brief reports - 1 May 2021
Flores Pimentel Mariana A, De la Huerta Irina, Duncan Jacque L, Slavotinek Anne M, Moore Anthony T, de Alba Campomanes Alejandra G
Abstract excerpt
PURPOSE: To present the scope of prenatal diagnosis and early treatment of patients with clinically heterogeneous phenotypic retinal dysplasia associated with NDP gene variants. METHODS: Retrospective. Review of electronic medical records. RESULTS: Twenty-nine-year-old woman known to carry a NDP gene variant presented to the eye clinic for consultation and risk assessment at her second pregnancy. Her 11-year-old...
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