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Clinical Genetics x Ophthalmology x clear all

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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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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Congenital Abnormalities of the Retinal Pigment Epithelium

Arturo Santos and Elias I. Traboulsi.

in Genetic Diseases of the Eye, Second Edition

January 2012; p ublished online October 2012 .

Chapter. Subjects: Clinical Genetics; Ophthalmology. 8222 words.

Congenital abnormalities of the RPE may be divided into focal, diffuse, and mixed categories. In focal lesions, such as congenital hypertrophy of the RPE (CHRPE), only a circumscribed group...

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Congenital Anomalies of the Optic Nerve

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. 17235 words.

This chapter traces the normal development of the optic nerve throughout gestation before discussing aplasia of the optic nerve, a rare condition in which the optic nerve fails to develop,...

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Congenital Stationary Night Blindness

Elias I. Traboulsi, Bart P. Leroy and Christina Zeitz.

in Genetic Diseases of the Eye, Second Edition

January 2012; p ublished online October 2012 .

Chapter. Subjects: Clinical Genetics; Ophthalmology. 4707 words.

Congenital stationary night blindness (CSNB) refers to a group of genetically and clinically heterogeneous retinal disorders. Ten different genes have been shown to be associated with CSNB...

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Cornea Plana

Arif O. Khan.

in Genetic Diseases of the Eye, Second Edition

January 2012; p ublished online October 2012 .

Chapter. Subjects: Clinical Genetics; Ophthalmology. 3742 words.

CNA2 has a distinct recognizable phenotype that is specific for recessive KERA mutations. CNA1 is less severe and more variable and likely has more than one locus. Sclerocornea,...

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Corneal Dystrophies

Walter Lisch, Elias I. Traboulsi, Irma Lopez and Dimitri T. Azar.

in Genetic Diseases of the Eye, Second Edition

January 2012; p ublished online October 2012 .

Chapter. Subjects: Clinical Genetics; Ophthalmology. 21448 words.

Corneal dystrophies (CDs) are hereditary, bilateral, and progressive disorders of the cornea that affect its transparency. The morphology of the opacity defines the clinical phenotype....

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Disorders of Color Vision

Samir S. Deeb and Amo G. Motulsky.

in Genetic Diseases of the Eye, Second Edition

January 2012; p ublished online October 2012 .

Chapter. Subjects: Clinical Genetics; Ophthalmology. 15663 words.

This chapter discusses disorders of color vision. After a brief historical overview and discussion of color vision and its assessment, photoreceptors and photopigments, the authors address...

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Ectopia Lentisand Associated Systemic Disease

Elias I. Traboulsi and Suneel S. Apte.

in Genetic Diseases of the Eye, Second Edition

January 2012; p ublished online October 2012 .

Chapter. Subjects: Clinical Genetics; Ophthalmology. 14521 words.

The crystalline lens collects light rays and images and keeps them in focus on the retina by changing its refractive power through the complex process of accommodation. The zonular fibers...

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Embryology of the Eye and the Role of Developmental Genes

Olof H. Sundin.

in Genetic Diseases of the Eye, Second Edition

January 2012; p ublished online October 2012 .

Chapter. Subjects: Clinical Genetics; Ophthalmology. 14502 words.

This chapter introduces the reader to molecules and cellular processes that take part in the formation of the eye. The basic question of embryology is how a single cell, the fertilized egg,...

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Familial Exudative Vitreoretinopathy, Norrie Disease, and other Developmental Retinal Vascular Disorders

Johane M. Robitaille, Duane L. Guernsey and Elias I. Traboulsi.

in Genetic Diseases of the Eye, Second Edition

January 2012; p ublished online October 2012 .

Chapter. Subjects: Clinical Genetics; Ophthalmology. 11589 words.

Familial exudative vitreoretinopathy (FEVR) consists of a developmental anomaly of the retinal vasculature characterized by a failure of peripheral retinal vascularization. The onset of...

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Gene Therapy for Ocular Diseases

Ben J. Kim and Nadia K. Waheed.

in Genetic Diseases of the Eye, Second Edition

January 2012; p ublished online October 2012 .

Chapter. Subjects: Clinical Genetics; Ophthalmology. 8857 words.

Vision scientists are uniquely positioned to make contributions to the field of gene therapy. Because of its anatomy the eye provides several advantages over other organs as a site for gene...

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Genetic Aspects of Uveal Melanoma

Werner Wackernagel and Arun D. Singh.

in Genetic Diseases of the Eye, Second Edition

January 2012; p ublished online October 2012 .

Chapter. Subjects: Clinical Genetics; Ophthalmology. 9964 words.

Recent advances in understanding of the pathogenesis, progression, and clinical course of uveal melanoma are based largely on emerging insights into the genetic mechanisms underlying this...

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