Alport syndrome

General: Autosomal dominant inheritance; early death in males; normal life span 959c21j in females.

Ocular: Anterior lenticonus (bilateral progressive); subcapsular cataracts; thinning of lens capsule; fundus albipunctatus; retinopathy similar to juvenile macular degeneration; hyaline bodies of optic nerve head; vesicles in Descemet membrane affecting basement membrane collagen; anterior and polar cataracts.

Clinical: Hemorrhagic nephritis; progressive nerve deafness; deafness (high tone, sensorineural); most often transmitted as an X-linked dominant trait, although dominant and recessive transmission has been reported.

Alport AC. Hereditary familial congenital hemorrhagic nephritis. Br Med J 1927; 1:504.

Jacobs M, et al. Ophthalmologic assessment of young patients with Alport syndrome. Ophthalmology 1992; 99: 1039-l044.

Polak BCP, Hogewind BL. Macular lesions in Alport's diseases. Am J Ophthalmol 1977; 84:532.

Streeteen BW Pathology of the lens. In: Albert DM, Jakobiec FA, eds. Principles and Practice of Ophthalmology, vol. IV. Philadelphia: WB Saunders, 1994:2189.

Streeteen BW, et al. Lens capsule abnormalities in Alport's syndrome. Arch Ophthalmol 1987; 105:1693-l697.

Sukhija J, Jagjit MS, Saini MD, et al. Phacoemulsification and intraocular lens imtation in an Alports syndrome patient with bilateral anterior and posterior lenticonus. J Cataract Refract Surg 2003; 29: 1834-l836.

Teekhasaenee C, et al. Posterior polymorphous dystrophy and Alport syndrome. Ophthalmology 1991; 98: 1207-l215.