Document Detail

Genotype-phenotype correlation in a family with Arg135Leu rhodopsin retinitis pigmentosa.
MedLine Citation:
PMID:  15548806     Owner:  NLM     Status:  MEDLINE    
AIM: To describe the clinical characteristics and disease course of a large family with retinitis pigmentosa (RP) from an Arg135Leu change in rhodopsin. METHODS: 29 patients in this family were evaluated. Goldmann visual fields were performed on 14 affected individuals, Ganzfeld electroretinography (ERG) on eight individuals (11-56 years), and blood samples collected on 10 individuals (11-58 years). Patient visual field data were compared with previously reported patients with different rhodopsin mutations using linear regression. RESULTS: An Arg135Leu mutation was identified in rhodopsin. Distinct stages of clinical evolution were identified for this family ranging from normal, white dots, classic bone spicules and, finally, ending with extensive retinal pigment epithelium (RPE) atrophy. 9/16 patients over the age of 20 years also demonstrated marked macular atrophy. All patients who underwent full field ERG testing demonstrated non-recordable ERGs. The overall regression model comparing solid angles of visual fields from patients with rhodopsin mutations (Pro23His, Pro347Ala, Arg135Leu) shows significant effects for age (p = 0.0005), mutation (p = 0.0014), and interaction between age and mutation (p = 0.018) with an R(2) of 0.407. CONCLUSIONS: An Arg135Leu change in rhodopsin results in a severe form of RP that evolves through various fundus appearances that include white dots early in life and classic appearing RP later. This transmembrane change in rhodopsin proves to be more severe than in a family with an intradiscal change and a family with a cytoplasmic change.
K T Oh; D M Oh; R G Weleber; E M Stone; A Parikh; J White; K A Deboer-Shields; L Streb; C Vallar
Related Documents :
925846 - Juvenile retinal detachment.
7813376 - Electrophysiologic alterations in patients with optic nerve hypoplasia.
21087956 - Figure ground discrimination in age-related macular degeneration.
21474386 - Drug-resistant temporal lobe epilepsy is associated with postural control abnormalities.
8077326 - Pulsatile thyrotropin secretion in nonthyroidal illness.
20922526 - The role of zinc protoporphyrin measurement in the differentiation between primary myel...
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  The British journal of ophthalmology     Volume:  88     ISSN:  0007-1161     ISO Abbreviation:  Br J Ophthalmol     Publication Date:  2004 Dec 
Date Detail:
Created Date:  2004-11-19     Completed Date:  2004-12-23     Revised Date:  2009-11-18    
Medline Journal Info:
Nlm Unique ID:  0421041     Medline TA:  Br J Ophthalmol     Country:  England    
Other Details:
Languages:  eng     Pagination:  1533-7     Citation Subset:  IM    
Department of Ophthalmology, University of North Carolina, Chapel Hill, NC, USA.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Arginine / genetics
Electroretinography / methods
Family Health
Fluorescein Angiography / methods
Leucine / genetics
Middle Aged
Mutation / genetics
Perimetry / methods
Retinitis Pigmentosa / genetics*,  pathology,  physiopathology
Rhodopsin / genetics*
Visual Acuity / physiology
Visual Fields / physiology
Reg. No./Substance:
61-90-5/Leucine; 74-79-3/Arginine; 9009-81-8/Rhodopsin

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

Previous Document:  Identification of monosomy 3 in choroidal melanoma by chromosome in situ hybridisation.
Next Document:  Elevated plasma levels of interleukin 8 in patients with acute anterior ischaemic optic neuropathy.