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Hereditary retinal dystrophies

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Introduction

Hereditary retinal dystrophies (HRD) are a group of genetic disorders that cause visual impairment. They are originated by a malfunction of photoreceptors, retinal pigment epithelium or the choriocapillaris. HRD are often progressive and produce partial or total vision loss

Summary

 

In this medical book we will cover several topics, such as genetics, clinical manifestations, diagnosis and research in relation to 5 hereditary retinal dystrophies: Stargardt disease, cone-rod dystrophy, X-linked retinoschisis, Leber congenital amaurosis and achromatopsia. We will also describe which visual aids can be used by people with these conditions. The content of this book will be periodically reviewed and kept up-to-date. If you wish to add any information, please send us an e-mail at info@share4rare.org