Kanski's Synopsis of Clinical Ophthalmology (Fourth edition) - Chapter 15: Hereditary Fundus Dystrophies

Elsevier, Kanski's Synopsis of Clinical Ophthalmology (Fourth edition) 2023, Pages 289-303
John F. Salmon

This chapter deals with a group of inherited disorders that have an effect on the RPE-photoreceptor complex and choriocapillaris, causing a range of symptoms and in many cases gradual visual loss. Phenotypical heterogeneity and genetic heterogeneity is commonly found and the input of a clinical geneticist is often needed. Retinitis pigmentosa is comprehensibly discussed and other uncommon entities are covered. Special investigations (including electroretinography) are included. The chapter is divided into five sections: generalized photoreceptor dystrophies, macular dystrophies, generalized choroidal dystrophies, hereditary vitreo-retinopathies and albinism. The clinical appearances and genetic background are discussed, with illustrations. Modern therapeutic approaches, which are likely to play a significant role in the future, are mentioned.