Hereditary Disease Publisher



Hassanpoor N¹ ; Ebrahimiadib N¹ ; Hajizade F² Show Affiliations
Source: Atlas of Ocular Optical Coherence Tomograph# Second Edition Published:2023

Abstract

Hereditary retinal disorders are a broad group of genetic eye diseases that can cause vision loss (usually progressive) with different age onsets from childhood to late adulthood. In this chapter, we tried to briefly discuss the most important and common types of hereditary retinal disorders, their pattern of inheritance and genetic basis, their symptoms and signs, prevalence, fundoscopic features, multimodal imaging characteristics with special focus on optical coherence tomography (OCT) and optical coherence tomography angiography (OCTA). This chapter describes about 18 common hereditary disease includes (1) Retinitis pigmentosa, (2) Vitelliform macular dystrophy, (3) Familial drusen, (4) Cone dystrophy, (5) Stargardt’s disease, (6) X-linked retinoschisis, (7) Alport maculopathy, (8) Foveal dysplasia, (9) Aberrant Macular Vessels, (10) Pattern dystrophy, (11) Metabolic disorders, (12) Macular coloboma, (13) Focal choroidal excavation, (14) Angiod streaks, (15) Bietti crystalline dystrophy, (16) Oguchi disease, (17) Gyrate atrophy, (18) Nanophthalmus. © The Editor(s) (if applicable) and The Author(s), under exclusive license to Springer Nature Switzerland AG 2022.