Atlas of inherited retinal diseases. ([2018])

• Record Type: Book
• Further Information: Note: Stephen H. Tsang, Taurn Sharma.
• Authors: Tsang, Stephen H; Sharma, Tarun K
• Contents: 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.
• Publisher Details: Cham : Springer
• Publication Date: 2018
• Copyright Date: 2018
• Extent: 1 online resource (xix, 274 pages), illustrations (chiefly color)
• Subjects: 617.7/35; Retina -- Diseases -- Genetic aspects -- Atlases; Genetic disorders -- Atlases; Retinal Diseases -- genetics; Retina -- diagnostic imaging; Atlas; Electronic books
• Languages: English
• ISBNs: 9783319950464; 3319950460
• Related ISBNs: 9783319950457
• Notes: Note: Includes bibliographical references and index.; Note: Description based on online resource; title from electronic title page (SpringerLink, viewed January 17, 2019).
• Access Rights: Legal Deposit; Only available on premises controlled by the deposit library and to one user at any one time; The Legal Deposit Libraries (Non-Print Works) Regulations (UK).
• Access Usage: Restricted: Printing from this resource is governed by The Legal Deposit Libraries (Non-Print Works) Regulations (UK) and UK copyright law currently in force.