Open AccessHereditary dystrophies of the posterior segment of the retina
Publication year - 2022
Publication title -
kastamonu tıp dergisi (katid)
Language(s) - English
Resource type - Journals
ISSN - 2757-9336
DOI - 10.51271/kmj-0029
Subject(s) - pseudoxanthoma elasticum , alport syndrome , macular dystrophy , retina , medicine , dystrophy , disease , bardet–biedl syndrome , ophthalmology , optometry , genetics , biology , dermatology , retinal , pathology , neuroscience , gene , glomerulonephritis , phenotype , kidney
Hereditary dystrophies of the posterior segment are the common name for a group of syndromic diseases in which the retina is affected. Until recently, the information available on these diseases has been limited and a wide range of clinical findings were reported. However, recent advances in genetics research suggest a better outlook. Here we review the recent advances in the following: Pseudoxanthoma Elasticum, Refsum Disease, Bietti Cryistalline Dystrophy, Alport’s Syndrome