Familial Disorders of the Optic Disc: Presentation of a Mother and Daughter and Review of the Literature.
Optic disc pit and optic nerve coloboma are examples of congenital optic disc abnormalities. Although optic nerve coloboma can be inherited in an autosomal dominant fashion, no conclusive link has been found in the case of optic disc pit as an autosomal dominant disease. We describe two cases: a daughter with an optic disc pit complicated by maculopathy and her mother with a congenitally abnormal optic disc complicated by peripapillary choroidal neovascularisation.
Ophthalmology Unit, Greenslopes Private Hospital, Brisbane, Qld., Australia.
Chia Lee
CL
Hsu
Ophthalmology Unit, Greenslopes Private Hospital, Brisbane, Qld., Australia ; Gallipoli Medical Research Institute, Greenslopes Private Hospital, Brisbane, Qld., Australia ; The University of Queensland School of Medicine, Brisbane, Qld., Australia.
Christopher J
CJ
Layton
Coloboma; Macular retinoschisis; Optic disc pit