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Observational Natural History Study of Autosomal Dominant Retinitis Pigmentosa (adRP)

2016-10-07 00:08:23 | BioPortfolio

Summary

The purpose of this study is to gain an understanding of disease progression over time in adRP patients with misfolded rod opsin mutations, as measured by Ellipsoid Zone (EZ) area and a variety of visual function assessments.

Study Design

Observational Model: Cohort, Time Perspective: Prospective

Conditions

Retinitis Pigmentosa

Status

Not yet recruiting

Source

Shire

Results (where available)

View Results

Links

Published on BioPortfolio: 2016-10-07T00:08:23-0400

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The purpose of this trial is to determine whether a nutritional supplement in addition to vitamin A will slow the course of retinitis pigmentosa.

PubMed Articles [82 Associated PubMed Articles listed on BioPortfolio]

Choroidal Vascularity Index in Retinitis Pigmentosa: An OCT Study.

To evaluate structural changes in the choroid of patients with retinitis pigmentosa (RP) using swept-source optical coherence tomography (OCT) scans.

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Medical and Biotech [MESH] Definitions

Autosomal recessive hereditary disorders characterized by congenital SENSORINEURAL HEARING LOSS and RETINITIS PIGMENTOSA. Genetically and symptomatically heterogeneous, clinical classes include type I, type II, and type III. Their severity, age of onset of retinitis pigmentosa and the degree of vestibular dysfunction are variable.

Hereditary, progressive degeneration of the neuroepithelium of the retina characterized by night blindness and progressive contraction of the visual field.

An autosomal recessive disorder characterized by RETINITIS PIGMENTOSA; POLYDACTYLY; OBESITY; MENTAL RETARDATION; hypogenitalism; renal dysplasia; and short stature. This syndrome has been distinguished as a separate entity from LAURENCE-MOON SYNDROME. (From J Med Genet 1997 Feb;34(2):92-8)

Vision considered to be inferior to normal vision as represented by accepted standards of acuity, field of vision, or motility. Low vision generally refers to visual disorders that are caused by diseases that cannot be corrected by refraction (e.g., MACULAR DEGENERATION; RETINITIS PIGMENTOSA; DIABETIC RETINOPATHY, etc.).

An autosomal recessive condition characterized by hypogonadism; spinocerebellar degeneration; MENTAL RETARDATION; RETINITIS PIGMENTOSA; and OBESITY. This syndrome was previously referred to as Laurence-Moon-Biedl syndrome until BARDET-BIEDL SYNDROME was identified as a distinct entity. (From N Engl J Med. 1989 Oct 12;321(15):1002-9)

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