Optic nerve hypoplasia, familial (bilateral, unilateral)

General: Autosomal dominant; congenital defect of o 848c27i ptic nerve and retina that occurs in both unilateral and bilateral forms; onset at birth; majority of cases are sporadic, although there are reports of familial cases; association of this condition with maternal ingestion of various substances, including quinine, lysergic acid diethylamide (LSD), and anticonvulsants.

Ocular: Optic nerve hypoplasia; diameter of optic disk is one third normal size; nystagmus; peripapillary halos; situs inversus of disk; strabismus; choroidal atrophy; microphthalmos; coloboma of choroid and/or optic disk; blepharophimosis; ptosis; aniridia; ocular motor nerve palsy.

Clinical: CNS defects; chromosomal abnormalities; cerebral malformations; vascular hypertension.

Hackenbruch Y, et al. Familial bilateral optic nerve hypoplasia. Am J Ophthalmol 1975; 79:314-320.

McKusick VA. Mendelian Inheritance in Man; A Catalog of Human Genes and Genetic Disorders, 12^th ed. Baltimore: The Johns Hopkins University Press, 1998.

Online Mendelian Inheritance in Man, OMIM. McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University and National Center for Biotechnology Information, National Library of Medicine, February 12, 2007. World Wide Web URL: https://www.ncbi.nlm.nih.gov/omim/.

Miller NR, ed. Walsh and Hoyt's Clinical Neuro-Ophthalmology, vol. 1, 4th ed. Baltimore: Williams & Wilkins, 1982:346.