Inherited Chorioretinal Dystrophies

Bernard Puech, MD, is Consultant Ophthalmologist in the Service d’Exploration Fonctionnelle de la Vision et Neuro-ophtalmologie  at the  Centre Hospitalier Régional Universitaire, Hôpital Roger Salengro, Lille Cedex, France. He has published  extensively on ophthalmic genetics.Jean-Jacques de Laey, MD, PhD, is Emeritus Professor of Ophthalmology at Ghent University, Belgium. He is Vice-President of the International Council of Ophthalmology until April 2014 and a Board Member of the ICO Foundation. Professor de Laey is one of the Founders of the European Society for Retina Specialists, of EUPO (European University Professors in Ophthalmology), and of EVER (European Vision and Eye Research). He is the author of 5 books and has published over 250 papers, mainly on medical retina.Graham E. Holder, PhD, has been Director of Electrophysiology and Consultant Electrophysiologist at Moorfields Eye Hospital, London, since 1995. Professor Holder’s early publications related to VEPs, but he has subsequently focused on retinal disease. He has authored over 190 peer-reviewed publications as well as over 35 book chapters, and has also co-authored a CDROM. He is a co-author the American Academy of Ophthalmology monograph on Clinical Visual Electrophysiologic Testing.  He was awarded an Honorary Professorship of University College London, at the Institute of Ophthalmology, in 2007, and of the University of Sydney, at Sydney Medical School, in 2013. Professor Holder was joint recipient of a prestigious Alcon award in 2010. He is a past President of EVER, the European Association for Vision and Eye Research, and has been Director of Education of the International Society for Clinical Electrophysiology of Vision (ISCEV) since 2001.

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.