Hereditary retinal dystrophies
Introduction
Hereditary retinal dystrophies (HRD) are a group of genetic disorders that cause visual impairment. They originate from 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
- Biology and genetics of the disease
- Clinical characteristics of retinal dystrophies
- Optical aids and functionality
- Non-optical aids
- Technological aids for visual dysfunction
- Potential therapeutic alternatives for retinal dystrophies
- Results of the study about hereditary retinal dystrophies (Rare Commons)