Alport Syndrome
Alport Syndrome (Hereditary Familial Congenital Hemorrhagic Nephritis;
Hereditary Nephritis; Familial Nephritis) 44
General: Autosomal dominant inheritance; early death in males; normal life span 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: 1039-1044.
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; 105:1693-1697.
Sukhija J, Jagjit MS, Saini MD, et.al.: Phacoemulsification and intraocular lens implantation in an Alport’s syndrome patient with bilateral anterior and posterior lenticonus. J Cataract Refract Surg 2003; 29: 1834-1836.
Teekhasaenee C, et al. Posterior polymorphous dystrophy and Alport syndrome. Ophthalmology 1991; 98: 1207-1215.
Hereditary Nephritis; Familial Nephritis) 44
General: Autosomal dominant inheritance; early death in males; normal life span 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: 1039-1044.
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; 105:1693-1697.
Sukhija J, Jagjit MS, Saini MD, et.al.: Phacoemulsification and intraocular lens implantation in an Alport’s syndrome patient with bilateral anterior and posterior lenticonus. J Cataract Refract Surg 2003; 29: 1834-1836.
Teekhasaenee C, et al. Posterior polymorphous dystrophy and Alport syndrome. Ophthalmology 1991; 98: 1207-1215.
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