Ocular manifestations of Donnai-Barrow syndrome.
Donnai-Barrow syndrome is a rare autosomal recessive disorder first described in 1993. This report presents ocular manifestations of this rare autosomal recessive disorder through 2 additional cases. Ocular features include hypertelorism, down-slanting palpebral fissures, iris coloboma, high myopia, and retinal detachment. The extreme congenital myopia in these patients is a significant risk factor for retinal detachment, and prophylactic barrier photocoagulation may be considered to prevent retinal detachment and its associated functional disability.
Patel
Nehal
N
Department of Ophthalmology and Visual Sciences, University of Nebraska Medical Center, Omaha, Nebraska 68198-5540, USA.
Hejkal
Thomas
T
Katz
Allen
A
Margalit
Eyal
E
D000015:Abnormalities, Multiple; D001327:Autoimmune Diseases / Q000473:pathology / Q000503:physiopathology*; D003337:Corpus Callosum / Q000473:pathology; D005260:Female; D006801:Humans; D006972:Hypertelorism / Q000503:physiopathology*; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D012163:Retinal Detachment / Q000503:physiopathology*; D035781:Siblings; D013577:Syndrome