| A clinical, psychophysical, and electroretinographic survey of patients with autosomal dominant retinitis pigmentosa. | |
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MedLine Citation:
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PMID: 3873253 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We have surveyed 104 patients (44 families) with autosomal dominant retinitis pigmentosa. The range of the survey includes clinical history, ocular examination, documentation of genetic history, Goldmann kinetic perimetry with IV/4 and I/4 white targets, two-colour static perimetry, and scotopic and photopic electroretinography. Comparison of interfamilial and intrafamilial patterns in the static perimetry data strongly suggests there may be at least two genetic subgroups within the disease characterised by the pattern of loss of rod function: in subgroup D (13 patients, 4 families) this is diffuse and severe, while in subgroup R (28 patients, 13 families) it is regional. In both D and R loss of cone function is regional, and in R it coincides with loss of rod function. In D patients the rod electroretinogram is absent; in all but two R cases it is present and usually substantial. All D patients were aware of night blindness before the age of 10, but most R patients not until after the age of 20. Many of the patients could not be classified because their disease was so advanced. The effect of disease duration on visual acuity and visual field area is described for all patients. |
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Authors:
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A L Lyness; W Ernst; M P Quinlan; G M Clover; G B Arden; R M Carter; A C Bird; J A Parker |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: The British journal of ophthalmology Volume: 69 ISSN: 0007-1161 ISO Abbreviation: Br J Ophthalmol Publication Date: 1985 May |
Date Detail:
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Created Date: 1985-07-22 Completed Date: 1985-07-22 Revised Date: 2009-11-18 |
Medline Journal Info:
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Nlm Unique ID: 0421041 Medline TA: Br J Ophthalmol Country: ENGLAND |
Other Details:
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Languages: eng Pagination: 326-39 Citation Subset: IM |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Adult Aged Child Chromosome Aberrations / physiopathology* Chromosome Disorders Color Vision Defects / physiopathology Electroretinography Female Humans Male Middle Aged Night Blindness / physiopathology Perimetry Retinitis Pigmentosa / genetics*, physiopathology Sensory Thresholds Visual Acuity Visual Fields |
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