HAKKI ÖZGÜR KONYA, MEHMET ÇITIRIK
Kastamonu Medical Journal - 2022;2(1):1-4
Hereditary dystrophies of the posterior segment of the retina are the common name for a group of syndromic diseases in which the retina is affected. There used to be a few know-hows and wide clinical findings in these diseases. Current genetic developments herald good promising results. In this text, you will find the ciliopathies group (Bardet- Biedl, Usher, McKusick Kaufman, Alström, Joubert, Senior Loken syndromes), Bassen Kornzweig (Abetalipoproteinemia), albinism, neuronal ceroid lipofuscinosis, mucopolysaccharidoses, peroxisomal disorders, cystinosis, and mitochondrial diseases.
