Ocular manifestations in Koolen-de Vries syndrome: an international study

CONCLUSIONS: KdVS is associated with various ophthalmic findings, such as amblyopia, refractive errors, strabismus, and eyelid ptosis. We describe, for the first time, a high rate of nasolacrimal disorders and retinal abnormalities consisting mainly of pigmentary findings, including a rare case of Sjögren's pigment epithelial reticular dystrophy. A comprehensive ophthalmic evaluation is therefore recommended for all KdVS patients at initial diagnosis or at 4-6 months of age for diagnosed newborns.PMID:38145626 | DOI:10.1016/j.jcjo.2023.11.021

Source: Canadian Journal of Ophthalmology - December 25, 2023 Category: Opthalmology Authors: Dafna Shalev David A Koolen Bert B A de Vries Sharon Blum Meirovitch Jean-Louis Mandel Pauline Burger Alik Rosenfeld Guy J Ben Simon Daphna Landau Prat Source Type: research