Genetic Etiology and Clinical Consequences of Cone Disorders

Abstract

Hereditary retinal disorders constitute a large heterogeneous group of diseases in which the photoreceptors are primarily aff ected. When cone cells are aff ected, one cannot see details or perceive color. In this thesis, we focused on the three most important diseases in which the cones are primarily aff ected: achromatopsia (ACHM), cone dystrophy (CD), and cone-rod dystrophy (CRD). Although cone disorders account for only a small portion of all retinal disorders, they have a great impact on daily life. This is mainly due to the early onset of disease, severe visual outcome, and lack of therapeutic options. Cone disorders can have an autosomal recessive, autosomal dominant or X-linked inheritance, but unfortunately the genetic etiology is still largely unknown. This hampers clinical and genetic counseling and the development of therapeutic options. This gap of knowledge encouraged us to initiate a multicenter study with the aim to investigate the clinical course of cone disorders and to unravel the genetic causes