Pediatric ophthalmologic findings of Cohen syndrome in twins.
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.
Mrugacz
Malgorzata
M
Department of Pediatric Ophthalmology Medical University of Bialystok, Bialystok, Poland.
Sredzinska-Kita
Dorota
D
Bakunowicz-Lazarczyk
Alina
A
D000550:Amblyopia / Q000175:diagnosis / Q000235:genetics; D002386:Cataract / Q000235:genetics; D019465:Craniofacial Abnormalities / Q000175:diagnosis* / Q000235:genetics; D004200:Diseases in Twins; D005128:Eye Diseases / Q000175:diagnosis* / Q000235:genetics; D005143:Eyelids / Q000002:abnormalities; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000175:diagnosis* / Q000235:genetics; D008297:Male; D009216:Myopia / Q000175:diagnosis / Q000235:genetics; D012162:Retinal Degeneration / Q000175:diagnosis / Q000235:genetics; D013577:Syndrome