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.
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Gripp KW, Donnai D., Clericuzio CL, McDonald-McGinn DM, Guttenberg M, Zackai EH. Diaphragmatic hernia-exomphalos-hypertelorism syndrome: a new case and further evidence of autosomal recessive inheritance . Am J Med Genet.1997;68:441-444.
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Chassaing N. , Lacombe D., Carles D., Calvas P., Saura R., Bieth E.Donnai-Barrow syndrome: four additional patients . Am J Med Genet A. 2003;121:258-262.
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Avunduk AM, Aslan Y., Kapicioglu Z., Elmas R.High myopia, hypertelorism, iris coloboma, exomphalos, absent corpus callosum, and sensorineural deafness: report of a case and further evidence for autosomal recessive inheritance. Acta Ophthalmol Scand.2000;78:221-222.
