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020			_a9789811673375
024	7		_a10.1007/978-981-16-7337-5 _2doi
040			_aTR-AnTOB _beng _erda _cTR-AnTOB
041			_aeng
060			_aWW 270
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245	1	0	_aInherited Retinal Disease _h[electronic resource] / _cedited by Hyeong-Gon Yu.
250			_a1st ed. 2022.
264		1	_aSingapore : _bSpringer Nature Singapore : _bImprint: Springer, _c2022.
300			_a1 online resource
336			_atext _btxt _2rdacontent
337			_acomputer _bc _2rdamedia
338			_aonline resource _bcr _2rdacarrier
347			_atext file _bPDF _2rda
505	0		_aMolecular Genetics of Inherited Retinal Diseases -- Approach to Inherited Retinal Diseases -- Stem Cell and Gene Therapy for Inherited Retinal Diseases -- Retinitis Pigmentosa -- Syndromic Retinitis.-Pigmentosa -- Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy -- Congenital Stationary Night Blindness -- Vitelliform Macular Dystrophy -- Stargardt Macular Dystrophy -- Cone Dystrophy / Cone-rod Dystrophy -- X-Linked Retinoschisis -- Von Hippel Lindau Disease and Retinal Hemangioblastoma -- Other Macular Dystrophies 1 -- Other Macular Dystrophies 2 -- Hereditary Vitreoretinal Degenerations -- Hereditary Choroidal Dystrophy -- Retinal Disorders Mimicking Inherited Retinal Diseases.
520			_aThis book presents the latest knowledge and expert guidance on all aspects of inherited retinal diseases, including molecular genetics, diagnosis, clinical features, general principles of treatment, novel treatment methods, and genetic counseling. Recent years have witnessed great advances in understanding of the genetic and cytological background of these diseases. Genetic analysis methods such as next generation sequencing have remarkably reduced the cost and time required for massive analysis of patients’ samples. Studies on gene therapy and stem cell therapy have been successfully carried out in animal models, and gene therapy is now available for Leber congenital amaurosis caused by RPE65 mutations. Against this background, Inherited Retinal Disease will be an invaluable up-to-date resource for ophthalmologists, medical students, and researchers in ocular inflammation. In addition to supplying essential information on each individual disorder, it features many interesting cases contributed by global leaders in the field as well as clinical photographs obtained with newer imaging techniques and numerous images of rare but clinically important diseases.
650		0	_aOphthalmology.
650	1	4	_aOphthalmology.
653		0	_aRetinal Diseases -- genetics
653		0	_aRetinitis Pigmentosa -- genetics
700	1		_aYu, Hyeong-Gon. _eeditor. _4edt _4http://id.loc.gov/vocabulary/relators/edt
710	2		_aSpringerLink (Online service)
856	4	0	_uhttps://doi.org/10.1007/978-981-16-7337-5 _3Springer eBooks _zOnline access link to the resource
942			_2NLM _cEBK