Disease course of patients with X-linked retinitis pigmentosa due to RPGR gene mutations.

Disease course of patients with X-linked retinitis pigmentosa due to RPGR gene mutations. Research Abstract Details 

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Disease course of patients with X-linked retinitis pigmentosa due to RPGR gene mutations. Abstract Text:

Michael A Sandberg,Bernard Rosner,Carol Weigel-DiFranco,Thaddeus P Dryja,Eliot L Berson,

PURPOSE: To measure the rates of visual acuity, visual field, and ERG loss in patients with X-linked retinitis pigmentosa due to RPGR mutations and to determine whether these rates differ from those of patients with dominant retinitis pigmentosa due to RHO mutations. METHODS: Snellen visual acuities, Goldmann visual field areas (V4e white test light), and 30 Hz (cone) full-field ERG amplitudes were recorded for an average of 9.8 years in 113 patients with RPGR mutations. After censoring data to eliminate ceiling and floor effects, we used longitudinal regression to estimate mean rates of change and to compare these rates with those of a previously studied cohort of 134 patients with dominant retinitis pigmentosa due to RHO mutations, who were followed for an average of 8.9 years. Survival analysis was used to compare the age distribution of legal blindness in these two groups. To explain group differences in visual acuity, optical coherence tomograms were recorded in some patients to visualize central retinal structure. RESULTS: Mean annual exponential rates of decline for the patients with RPGR mutations were 4.0% for visual acuity, 4.7% for visual field area, and 7.1% for ERG amplitude. Each of these rates was significantly different from zero (P < 0.001). The rates of visual acuity and visual field loss were significantly faster than the corresponding rates in the RHO patients (1.6%, P < 0.001 and 2.9%, P = 0.002, respectively), whereas the rate of ERG amplitude loss was comparable to that in the RHO patients (7.7%, P = 0.39). The median age of legal blindness was 32 years younger in the RPGR patients than in the RHO patients, due primarily to loss of visual acuity rather than to loss of visual field. Loss of acuity in RPGR patients appeared to be associated with foveal thinning. CONCLUSIONS: Patients with X-linked retinitis pigmentosa due to RPGR mutations lose visual acuity and visual field more rapidly than do patients with dominant retinitis pigmentosa due to RHO mutations.

Disease course of patients with X-linked retinitis pigmentosa due to RPGR gene mutations. Publishing Authors By Initials

MA Sandberg,B Rosner,C Weigel-DiFranco,TP Dryja,EL Berson,

For similar visual fields research abstracts see: visual fields research

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Disease course of patients with X-linked retinitis pigmentosa due to RPGR gene mutations. Journal Published:

PUBLICATION TYPE: Research Support, Non-U.S. Gov

Journal: Investigative ophthalmology & visual science

VOLUME: 48

Page Numbers: 1298-304

Journal Abbreviation: Invest. Ophthalmol. Vis. Sci.

ISSN: 0146-0404

DAY: 3

MONTH: Mar

YEAR: 2007

Disease course of patients with X-linked retinitis pigmentosa due to RPGR gene mutations. Information

Number of References:

LANGUAGE: eng

NlmUniqueID: 7703701

Disease course of patients with X-linked retinitis pigmentosa due to RPGR gene mutations. Keywords Mesh Terms:

KEYWORDS: Visual Fields

MESH TERMS: physiology

Chemical & Substance for Abstract: Disease course of patients with X-linked retinitis pigmentosa due to RPGR gene mutations. Information

Substance Name: Rhodopsin

Registry Number: 9009-81-8

Grant and Affiliation Information for Disease course of patients with X-linked retinitis pigmentosa due to RPGR gene mutations.

AFFILIATION: Berman-Gund Laboratory for the Study of Retinal Degenerations, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts, USA. masandberg@aol.com

Country: United States

AGENCY: United States NEI

GRANT: EY14104

ACRONYM: EY

MEDLINETA: Invest Ophthalmol Vis Sci

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