Coloboma of macula (agenesis of macula) 265

General: Autosomal dominant; can be caused by intrauterine inflammation, birth hemorrhage; infantile inflammation.

Ocular: Defect in central area of fundus; coloboma can be pigmented, nonpigmented, or have abnormal vessels associated or completely absent; visual defect; absolute central scotoma; nystagmus; myopia; destruction of pigment epithelium; microphthalmos; coloboma of optic nerve (rare); keratoconus; paravenous retinochoroidal atrophy.

Clinical: Microencephaly.

Chen MS, et al. Bilateral macular coloboma and pigmented paravenous retinochoroidal atrophy. Br J Ophthalmol 1992; 76:250-251.

Duane TD. Clinical Ophthalmology. Philadelphia: JB Lippincott, 1987.

McKusick VA. Mendelian Inheritance in Man; A Catalog of Human Genes and Genetic Disorders, 12th 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/.