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Pediatric ophthalmologic findings of Cohen syndrome in twins
Malgorzata Mrugacz1, Dorota Sredzinska-Kita, Alina Bakunowicz-Lazarczyk
1Department of Pediatric Ophthalmology Medical University of Bialystok, Bialystok, Poland.
Journal of Pediatric Ophthalmology and Strabismus
|February 24, 2005
Abstract:
We present the clinical findings and follow-up data of male twins with Cohen syndrome. The most characteristic ophthalmologic findings were down-slanting eyelids, lens opacities, chorioretinal dystrophy, pigmentary retinal deposits, pale disk, and bull's eye maculae.
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Pleiotropy
Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
