Optic atrophy, juvenile (optic atrophy, congenital; kjer-type optic atrophy; optic atrophy, kjer-type; oak syndrome [optic atrophy, kjer type])

General: Autosomal dominant; dominant pattern distinguishes it from Leber optic atrophy; insidious onset; onset in childhood; pathogenetic mechanism may be primary degeneration of retinal ganglion cells.

Ocular: Central scotoma; color defects; choroidal sclerosis; optic neuritis; temporal optic atrophy; aggregation of retinal pigment epithelium; tortuosity of retinal arteries and veins; reduced central vision; retinal lesions; may present with mild-to-moderate reduction of visual acuity with 50% of patients having vision between 20/60 and 20/200; visual field defect associated may be a central, paracentral, or cecocentral scotoma.

Clinical: Keratosis pilaris on the extremities; approximately 10% of patients present with mental abnormalities and approximately 80% of patients with neural hearing loss.

Kivlin JD, et al. Linkage analysis in dominant optic atrophy. Am J Hum Genet 1983; 35:1190-l195.

Kjer P. Infantile optic atrophy with dominant mode of inheritance. Copenhagen: Bogtrykkeriet Forum, 1959.

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, 1982:320.