{"title":"遗传性视网膜后段营养不良症","authors":"","doi":"10.51271/kmj-0029","DOIUrl":null,"url":null,"abstract":"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","PeriodicalId":369732,"journal":{"name":"Kastamonu Medical Journal","volume":"16 1","pages":"0"},"PeriodicalIF":0.0000,"publicationDate":"2022-03-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Hereditary dystrophies of the posterior segment of the retina\",\"authors\":\"\",\"doi\":\"10.51271/kmj-0029\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"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\",\"PeriodicalId\":369732,\"journal\":{\"name\":\"Kastamonu Medical Journal\",\"volume\":\"16 1\",\"pages\":\"0\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2022-03-31\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Kastamonu Medical Journal\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.51271/kmj-0029\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Kastamonu Medical Journal","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.51271/kmj-0029","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Hereditary dystrophies of the posterior segment of the retina
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