Ocular Manifestations of Donnai-Barrow Syndrome

Patel, Nehal MD
Hejkal, Thomas MD
Katz, Allen CRA, COT
Margalit, Eyal MD, PhD

Department of Ophthalmology and Visual Sciences, University of Nebraska Medical Center, Omaha, Nebraska
Department of Ophthalmology and Visual Sciences, University of Nebraska Medical Center, Omaha, Nebraska
Department of Ophthalmology and Visual Sciences, University of Nebraska Medical Center, Omaha, Nebraska
Department of Ophthalmology and Visual Sciences, University of Nebraska Medical Center, Omaha, Nebraska, [email protected]

Journal of Child Neurology 22(4):p 462-464, April 2007. | DOI: 10.1177/0883073807301933

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.