04681nam 22006735 450 991030006610332120250704131656.03-540-69466-810.1007/978-3-540-69466-3(CKB)3710000000202713(EBL)1783164(OCoLC)889304317(SSID)ssj0001297119(PQKBManifestationID)11723766(PQKBTitleCode)TC0001297119(PQKBWorkID)11352943(PQKB)10999626(MiAaPQ)EBC1783164(DE-He213)978-3-540-69466-3(PPN)179920553(EXLCZ)99371000000020271320140719d2014 u| 0engur|n|---|||||txtccrInherited Chorioretinal Dystrophies A Textbook and Atlas /edited by Bernard Puech, Jean-Jacques De Laey, Graham E. Holder1st ed. 2014.Berlin, Heidelberg :Springer Berlin Heidelberg :Imprint: Springer,2014.1 online resource (477 p.)Description based upon print version of record.3-540-69464-1 Includes bibliographical references and index at the end of each chapters.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.This lavishly illustrated atlas provides indispensable information to clinicians, geneticists and visual scientists working with inherited retinal diseases. It is filled with high-quality images, up-to-date genetic information and comprehensive electrophysiology. The data for each individual disorder have been summarised in an accessible, reader-friendly format for easy reference. The illustrations include colour fundus photographs, fluorescein angiograms, OCT scans, electrophysiological studies and pedigrees. The editors and authors are well-known experts in the field and have drawn upon their extensive experience to produce this unique atlas.OphthalmologyMedical geneticsPathologyOphthalmologyMedical GeneticsPathologyOphthalmology.Medical genetics.Pathology.Ophthalmology.Medical Genetics.Pathology.599935610611.01816616.07Puech Bernardedthttp://id.loc.gov/vocabulary/relators/edtDe Laey J. J.edthttp://id.loc.gov/vocabulary/relators/edtHolder Graham E.edthttp://id.loc.gov/vocabulary/relators/edtBOOK9910300066103321Inherited Chorioretinal Dystrophies1521785UNINA