Genotype-phenotype correlation in a family with Arg135Leu rhodopsin retinitis pigmentosa

K. T. Oh, D. M. Oh, Richard Weleber, E. M. Stone, A. Parikh, J. White, K. A. DeBoer-Shields, L. Streb, C. Vallar

Research output: Contribution to journalArticle

11 Citations (Scopus)

Abstract

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 R2 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.

Original languageEnglish (US)
Pages (from-to)1533-1537
Number of pages5
JournalBritish Journal of Ophthalmology
Volume88
Issue number12
DOIs
StatePublished - Dec 2004
Externally publishedYes

Fingerprint

Retinitis Pigmentosa
Rhodopsin
Genetic Association Studies
Mutation
Visual Fields
Electroretinography
Atrophy
Retinal Pigment Epithelium
Linear Models
Bone and Bones

ASJC Scopus subject areas

  • Ophthalmology

Cite this

Genotype-phenotype correlation in a family with Arg135Leu rhodopsin retinitis pigmentosa. / Oh, K. T.; Oh, D. M.; Weleber, Richard; Stone, E. M.; Parikh, A.; White, J.; DeBoer-Shields, K. A.; Streb, L.; Vallar, C.

In: British Journal of Ophthalmology, Vol. 88, No. 12, 12.2004, p. 1533-1537.

Research output: Contribution to journalArticle

Oh, KT, Oh, DM, Weleber, R, Stone, EM, Parikh, A, White, J, DeBoer-Shields, KA, Streb, L & Vallar, C 2004, 'Genotype-phenotype correlation in a family with Arg135Leu rhodopsin retinitis pigmentosa', British Journal of Ophthalmology, vol. 88, no. 12, pp. 1533-1537. https://doi.org/10.1136/bjo.2004.043653
Oh, K. T. ; Oh, D. M. ; Weleber, Richard ; Stone, E. M. ; Parikh, A. ; White, J. ; DeBoer-Shields, K. A. ; Streb, L. ; Vallar, C. / Genotype-phenotype correlation in a family with Arg135Leu rhodopsin retinitis pigmentosa. In: British Journal of Ophthalmology. 2004 ; Vol. 88, No. 12. pp. 1533-1537.
@article{f551116ad6314a0c8767ae11627cd6b3,
title = "Genotype-phenotype correlation in a family with Arg135Leu rhodopsin retinitis pigmentosa",
abstract = "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 R2 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.",
author = "Oh, {K. T.} and Oh, {D. M.} and Richard Weleber and Stone, {E. M.} and A. Parikh and J. White and DeBoer-Shields, {K. A.} and L. Streb and C. Vallar",
year = "2004",
month = "12",
doi = "10.1136/bjo.2004.043653",
language = "English (US)",
volume = "88",
pages = "1533--1537",
journal = "British Journal of Ophthalmology",
issn = "0007-1161",
publisher = "BMJ Publishing Group",
number = "12",

}

TY - JOUR

T1 - Genotype-phenotype correlation in a family with Arg135Leu rhodopsin retinitis pigmentosa

AU - Oh, K. T.

AU - Oh, D. M.

AU - Weleber, Richard

AU - Stone, E. M.

AU - Parikh, A.

AU - White, J.

AU - DeBoer-Shields, K. A.

AU - Streb, L.

AU - Vallar, C.

PY - 2004/12

Y1 - 2004/12

N2 - 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 R2 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.

AB - 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 R2 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.

UR - http://www.scopus.com/inward/record.url?scp=9644300803&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=9644300803&partnerID=8YFLogxK

U2 - 10.1136/bjo.2004.043653

DO - 10.1136/bjo.2004.043653

M3 - Article

C2 - 15548806

AN - SCOPUS:9644300803

VL - 88

SP - 1533

EP - 1537

JO - British Journal of Ophthalmology

JF - British Journal of Ophthalmology

SN - 0007-1161

IS - 12

ER -