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Achromatopsia-Rod Monochromacy

Susanne Kohl.

in Genetic Diseases of the Eye, Second Edition

January 2012; p ublished online October 2012 .

Chapter. Subjects: Clinical Genetics; Ophthalmology. 6142 words.

Achromatopsia is also referred to as rod monochromacy (or rod monochromatism), complete (or total) color blindness (OMIM 216900, 262300, and 139340) or day blindness (hemeralopia) and is...

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Albinism

Reecha Sachdeva, Lisa S. Abrams and Elias I. Traboulsi.

in Genetic Diseases of the Eye, Second Edition

January 2012; p ublished online October 2012 .

Chapter. Subjects: Clinical Genetics; Ophthalmology. 17024 words.

Albinism comprises a heterogeneous group of inherited disorders characterized by the reduction or total absence of pigment from the eye, hair, and skin. All the currently known types of...

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Aniridia

Reecha Sachdeva and Elias I. Traboulsi.

in Genetic Diseases of the Eye, Second Edition

January 2012; p ublished online October 2012 .

Chapter. Subjects: Clinical Genetics; Ophthalmology. 11777 words.

Aniridia is a misnomer applied to a bilateral malformation of the eye in which the most prominent abnormality is near-total absence of the iris. This chapter looks at the morphology and...

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Anophthalmia, Colobomatous, Microphthalmia, and Optic Fissure Closure Defects

Brian P. Brooks and Elias I. Traboulsi.

in Genetic Diseases of the Eye, Second Edition

January 2012; p ublished online October 2012 .

Chapter. Subjects: Clinical Genetics; Ophthalmology. 14777 words.

This chapter will review the clinical characteristics, developmental mechanisms, and known genetic causes of anophthalmia, microphthalmia, and optic fissure closure defects (commonly...

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Autonomic Failure

Edited by Christopher J. Mathias and Sir Roger Bannister.

May 2013; p ublished online July 2013 .

Book. Subjects: Neurology; Anatomy; Urology; Respiratory Medicine and Pulmonology; Gastroenterology; Nephrology; Pain Medicine; Cardiovascular Medicine; Ophthalmology; Reproductive Medicine; Immunology; Endocrinology and Diabetes; Paediatrics; Geriatric Medicine; Anaesthetics; Pharmacology; Medical Toxicology; Surgery. 928 pages.

This new edition of Autonomic Failure features numerous new chapters and makes diagnosis increasingly precise by fully evaluating the underlying anatomical and functional deficits, thereby...

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Basic Sciences for Ophthalmology

Louise Bye, Neil Modi and Miles Stanford.

May 2013; p ublished online July 2013 .

Book. Subjects: Ophthalmology; Clinical Genetics; Pathology; Immunology. 288 pages.

Part of the Oxford Specialty Training series, Basic Sciences for Ophthalmology is an indispensable and fully comprehensive resource, and the only one that candidates will need to pass the...

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Bestrophinopathies

Bart P. Leroy.

in Genetic Diseases of the Eye, Second Edition

January 2012; p ublished online October 2012 .

Chapter. Subjects: Clinical Genetics; Ophthalmology. 7413 words.

Best vitelliform macular dystrophy (BVMD) was the first inherited retinal condition in which mutations in the BEST1 gene were shown to be the underlying cause.1 Other mutations in the same...

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Biochemistry and genetics

Louise A. Bye.

in Basic Sciences for Ophthalmology

May 2013; p ublished online July 2013 .

Chapter. Subjects: Ophthalmology; Clinical Genetics. 18093 words.

This chapter explores biochemistry and genetics for ophthalmology, including cell structure, cell signalling, cellular processes, connective tissue, extracellular matrix, and cellular...

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Choroideremia

Ian M. MacDonald and Miguel C. Seabra.

in Genetic Diseases of the Eye, Second Edition

January 2012; p ublished online October 2012 .

Chapter. Subjects: Clinical Genetics; Ophthalmology. 5314 words.

Choroideremia is an X-linked progressive degeneration of the retinal pigment epithelium (RPE), retina, and choroid. Choroideremia primarily affects males. Boys have difficulty seeing at...

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Cone Dysfunction Syndromes, Cone Dystrophies, and Cone-Rod Degenerations

Elias I. Traboulsi.

in Genetic Diseases of the Eye, Second Edition

January 2012; p ublished online October 2012 .

Chapter. Subjects: Clinical Genetics; Ophthalmology. 7363 words.

Predominant abnormalities of cone photoreceptor function are present in retinal disorders previously classified under a number of headings, such as cone dystrophies, cone-rod degenerations,...

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