Laurence-moon-bardet-biedl syndrome (bardet-biedl syndrome; retinitis pigmentosa-polydactyly-adiposogenital syndrome)

General: Recessive, dominant autosomal, and recessive sex-linked gene; male preponderance; onset in childhood; cases of Laurence-Moon belong to the group of heredoataxias.

Ocular: Ptosis; epicanthus; nystagmus; strabismus; night blindness; myopia; hypermetropia; iris coloboma; retinitis pigmentosa 'bone corpuscles'; macular degeneration; attenuation of retinal vessels; choroidal atrophy; optic nerve atrophy; cataract; microphthalmia; keratoconus.

Clinical: Obesity (Frhlich type); hypogenitalism; reduced intelligence and mental retardation; turricephaly; shortness of stature; atresia ani; genu valgum; congenital heart disease; polydactyly; body hair scant or absent; pseudogynecomastia.

Berson EL, et al. Progressive cone-rod degeneration. Arch Ophthalmol 1968; 80:68.

Fannemel M, et al. High-resolution chromosome analysis in autosomal recessive disorders: Laurence-Moon-Bardet-Biedl syndrome. Clin Genet 1993; 43:111-l12.

Geeraets WJ. Ocular Syndromes. 3rd ed. Philadelphia: Lea & Febiger, 1976.

Laurence JZ, Moon RC. Four cases of 'retinitis pigmentosa' in the same family and accompanied by general imperfections of development. Ophthalmol Rev 1866; 2:32.

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/.

Rizzo JF, et al. Retinal and neurologic findings in the Laurence-Moon-Bardet-Biedl phenotype. Ophthalmology 1986; 93: 1452-l456.