Atlas of inherited retinal diseases / Stephen H. Tsang, Taurn Sharma.
Tsang, Stephen H., author.; Sharma, Tarun K., author.
2018
RE551
Available Online

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Title Atlas of inherited retinal diseases / Stephen H. Tsang, Taurn Sharma.
Author Tsang, Stephen H., author.
ISBN 9783319950464 (electronic book)
3319950460 (electronic book)
9783319950457
Published Cham : Springer, [2018]
Copyright ©2018
Language English
Description 1 online resource (xix, 274 pages) : illustrations.
Call Number RE551
Dewey Decimal Classification 617.7/35
Summary "This Atlas of Inherited Retinal Disorders provides a thorough overview of various inherited retinal dystrophies with emphasis on phenotype characteristics and how they are related to the most frequently encountered genes. It will also meet the hitherto unmet need of PhD students who would benefit from seeing the phenotypes of the genes they work on and study. Further, because it would help geneticists use and familiarize themselves with the candidate gene approach to test patients' genomes, enabling them to test more efficiently and cost-efficiently (as the cost of genetic testing is quite high and spiralling higher). This invaluable atlas is organized into eight sections starting with the basic knowledge on retinal imaging as an introduction to the subject matter, then diseases are listed according to their inheritance pattern while disorders with extraocular manifestations are grouped by their defining features. This structure will be intuitive to clinicians and students studying IRDs"--Publisher's description.
Bibliography, etc. Note Includes bibliographical references and index.
Access Note Access limited to authorized users.
Source of Description Description based on online resource; title from electronic title page (SpringerLink, viewed January 17, 2019).
Added Author Sharma, Tarun K., author.
Series Advances in experimental medicine and biology ; v. 1085.
Available in Other Form Atlas of inherited retinal diseases.
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Basic knowledge. Retinal histology and anatomical landmarks
Fluorescein angiography
Optical coherence tomography
Fundus autofluorescence
Electroretinography
Electrooculography
Glossary of relevant genetic and molecular/cell biology
X-linked forms. X-linked retinitis pigmentosa
X-linked choroideremia
X-linked juvenile retinoschisis
X-linked ocular albinism
Progressive cone dystrophy and cone-rod dystrophy (XL, AD, and AR)
Congenital stationary night blindness
Blue cone monochromatism
Autosomal dominant forms. Autosomal dominant retinitis pigmentosa
Best vitelliform macular dystrophy
Pattern dystrophy
Doyne honeycomb retinal dystrophy (malattia leventinese, autosomal dominant drusen)
Occult macular dystrophy
Sorsby pseudoinflammatory fundus dystrophy
North Carolina macular dystrophy
Pigmented paravenous chorioretinal atrophy (PPCRA)
Late-Onset Retinal Degeneration
Autosomal Recessive Form. Rod Monochromatism (Achromatopsia)
Retinitis pigmentosa (non-syndromic)
Leber congenital amaurosis
Stargardt disease
Enhanced S-cone syndrome (Goldmann-Favre syndrome)
Best vitelliform macular dystrophy
Systemic disorders. Mitochondrial disorder: Kearns-Sayre syndrome
Mitochondrial disorder: maternally inherited diabetes and deafness
Ciliopathy: Usher syndrome
Ciliopathy: Bardet-Biedl syndrome
Ciliopathy: Senior-Løken syndrome
Ciliopathy: Alström syndrome
Ciliopathy: Sjögren-Larsson syndrome
Inborn errors of metabolism: Gyrate atrophy
Inborn errors of metabolism: pseudoxanthoma elasticum
Inborn errors of metabolism: Refsum disease
Inborn errors of metabolism: Bietti Crystalline dystrophy
Extracellular matrix: Alport syndrome
Phakomatoses. Von Hippel-Lindau disease
Tuberous sclerosis
Neurofibromatosis
Phenocopies. Rubella retinopathy
Syphilis
Autoimmune retinopathy
Drug-induced retinal toxicity
Acute zonal occult outer retinopathy (AZOOR) and related diseases
Diffuse unilateral subacute neuroretinitis (DUSN)
Managing IRDs in clinics. A practical approach to retinal dystrophies
Genetic testing for inherited retinal dystrophy: basic understanding.

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