Inherited Chorioretinal Dystrophies

Investigations.- Introduction to molecular genetics and genetic testing for retinal dystrophies- Electrophysiological testing.- Dark adaptation.- Fluorescein angiography.- ICG angiography.- Fundus autofluorescence in retinal dystrophies.- Spectral-domain optical coherence tomography in hereditary retinal dystrophies. Inherited Retinal Dystrophies.- Inherited stationary disorders of the retina.- Retinitis pigmentosa and allied disorders.- Leber congenital amaurosis.- Retinitis punctata albescens.- Usher Syndromes.- Cone and Cone-rod dystrophies.- Enhanced S-Cone syndrome.- Chorioretinopathies: Choroideremia and gyrate atrophy.- Late onset retinal degeneration.- Stargardt Disease.- Bestrophinopathies.- Retinal dystrophies associated with the PRPH2 gene.- Alström syndrome.- Bardet-Biedl syndrome.- Cohen syndrome.- Juvenile neuronal ceroid lipofuscinosis (JNCL).- Adult Refsum disease.- Abetalipoproteinemia.- LCHAD deficiency.- Jalili syndrome.- Spinocerebellar ataxia.- Dominant cystoid macular dystrophy.- Autosomal dominant Stargardt-like macular dystrophy (ELOVL4). - Spastic paraplegia and retinal degeneration. Kjellin syndrome.- Autosomal dominant drusen.- Cuticular drusen.- Extensive macular atrophy with pseudodrusen-like appearance (EMAP).- Congenital hypotrichosis with juvenile macular dystrophy.- Mitochondrial retinopathies.- Sorsby fundus dystrophy.- Bietti crystalline corneoretinal dystrophy.- Cystinosis.- Oxalosis.- Alport syndrome.- X-linked retinoschisis.- Paramacular choriocapillaris atrophy.- Exudative vitreoretinopathy.- Stickler syndrome.- Wagner syndrome.- Incontinentia pigmenti Type II (IP2).- Ganglion cell disease.- Pseudoxanthoma elasticum.- Aicardi Syndrome.- Chorioretinal dysplasia-microcephaly-mental retardation syndrome (Azial-Dufier syndrome).- Alagille syndrome.- Future therapies for retinitis pigmentosa.

Bernard Puech is Full Professor in Ophthalmology, Exploration Fonctionelle de la Vision, Centre Hospitalier Régional Universitaire, Hôpital Roger Salengro, Lille Cedex, France.

Jean-Jacques de Laey,MD, PhD is Professor and Chairman of the department of Ophthalmology at Ghent University. He is the Secretary General of the International Council of Ophthalmology and ICO Foundation. He is one of the Founders of the European Society for Retina Specialists. He is author of 5 books and published over 250 papers on the subject.