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020 _a9783540694663
_9978-3-540-69466-3
024 7 _a10.1007/978-3-540-69466-3
_2doi
035 _ato000544338
040 _aSpringer
_cSpringer
_dRU-ToGU
050 4 _aRE1-994
072 7 _aMJQ
_2bicssc
072 7 _aMED063000
_2bisacsh
082 0 4 _a617.7
_223
245 1 0 _aInherited Chorioretinal Dystrophies
_helectronic resource
_bA Textbook and Atlas /
_cedited by Bernard Puech, Jean-Jacques De Laey, Graham E. Holder.
260 _aBerlin, Heidelberg :
_bSpringer Berlin Heidelberg :
_bImprint: Springer,
_c2014.
300 _aXV, 488 p. 428 illus., 339 illus. in color.
_bonline resource.
336 _atext
_btxt
_2rdacontent
337 _acomputer
_bc
_2rdamedia
338 _aonline resource
_bcr
_2rdacarrier
505 0 _aInvestigations -- 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.
520 _aThis 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.
650 0 _amedicine.
_9566220
650 0 _aHuman genetics.
_9566248
650 0 _aOphthalmology.
_9566282
650 0 _aPathology.
_9303087
650 1 4 _aMedicine & Public Health.
_9566221
650 2 4 _aOphthalmology.
_9566282
650 2 4 _aHuman Genetics.
_9566249
650 2 4 _aPathology.
_9303087
700 1 _aPuech, Bernard.
_eeditor.
_9451486
700 1 _aDe Laey, Jean-Jacques.
_eeditor.
_9451487
700 1 _aHolder, Graham E.
_eeditor.
_9451488
710 2 _aSpringerLink (Online service)
_9143950
773 0 _tSpringer eBooks
856 4 0 _uhttp://dx.doi.org/10.1007/978-3-540-69466-3
912 _aZDB-2-SME
999 _c401888