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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.
Observational Model: Cohort, Time Perspective: Prospective
Not yet recruiting
Published on BioPortfolio: 2016-10-07T00:08:23-0400
The purpose of this study is to evaluate subjects with X-linked retinitis pigmentosa caused by RPGR-ORF15 mutations in a clinical setting to fully characterize their condition, measure tes...
A clinical trial of AAV2 vector for patients with X-linked retinitis pigmentosa (XLRP)
The purpose of this study is to evaluate the effect of L-Dopa on the progression of retinitis pigmentosa.
The long-term goal is to show that retinal transplantation can help to prevent blindness and to restore eyesight in patients with the inherited disease retinitis pigmentosa.
The purpose of this trial is to determine whether a nutritional supplement in addition to vitamin A will slow the course of retinitis pigmentosa.
To evaluate structural changes in the choroid of patients with retinitis pigmentosa (RP) using swept-source optical coherence tomography (OCT) scans.
to report phenotypic and genotypic features in a group of autosomal recessive retinitis pigmentosa (arRP) patients associated with EYS mutations.
To evaluate the progression of retinitis pigmentosa (RP) caused by mutations in either PDE6A or PDE6B by measuring the progressive constriction of the hyperautofluorescent ring and shortening of the e...
To explore the genetic etiology of a pedigree affected with hereditary retinitis pigmentosa.
To describe features of posterior staphylomas in nonhighly myopic eyes with retinitis pigmentosa (RP).
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)