PURPOSE: Description of two patients, each with different features of congenital optic disc anomalies in the two eyes. METHODS: Case report RESULTS: Patient 1, a 3-month-old girl, showed retinochoroidal coloboma involving the optic nerve in the right eye and optic nerve hypoplasia in the left eye. Patient 2, a 5-month-old boy, showed retinal fold extending inferiorly in the right eye and optic disc coloboma in the left eye. CONCLUSIONS: Since in both cases coloboma was seen in one eye, the optic nerve hypoplasia or retinal fold in the fellow eye of these two patients may have been related to the timing of embryonic fissure opening or closing.
PURPOSE: Description of two patients, each with different features of congenital optic disc anomalies in the two eyes. METHODS: Case report RESULTS:Patient 1, a 3-month-old girl, showed retinochoroidal coloboma involving the optic nerve in the right eye and optic nerve hypoplasia in the left eye. Patient 2, a 5-month-old boy, showed retinal fold extending inferiorly in the right eye and optic disc coloboma in the left eye. CONCLUSIONS: Since in both cases coloboma was seen in one eye, the optic nerve hypoplasia or retinal fold in the fellow eye of these two patients may have been related to the timing of embryonic fissure opening or closing.
Authors: L A Schimmenti; H E Cunliffe; L A McNoe; T A Ward; M C French; H H Shim; Y H Zhang; W Proesmans; A Leys; K A Byerly; S R Braddock; M Masuno; K Imaizumi; K Devriendt; M R Eccles Journal: Am J Hum Genet Date: 1997-04 Impact factor: 11.025