Visual Function in Carriers of X-Linked Retinitis Pigmentosa
- PMID: 26143542
- PMCID: PMC4562908
- DOI: 10.1016/j.ophtha.2015.05.039
Visual Function in Carriers of X-Linked Retinitis Pigmentosa
Abstract
Purpose: To determine the frequency and severity of visual function loss in female carriers of X-linked retinitis pigmentosa (XLRP).
Design: Case series.
Participants: Two hundred seventy-six XLRP carriers with cross-sectional data (n = 242) and longitudinal data (n = 34; median follow-up, 16 years; follow-up range, 3-37 years). Half of the carriers were from RPGR- or RP2-genotyped families.
Methods: Retrospective medical records review.
Main outcome measures: Visual acuities, visual field areas, final dark adaptation thresholds, and full-field electroretinography (ERG) responses to 0.5-Hz and 30-Hz flashes.
Results: In genotyped families, 40% of carriers showed a baseline abnormality on at least 1 of 3 psychophysical tests. There was a wide range of function among carriers. For example, 3 of 121 (2%) genotyped carriers were legally blind because of poor visual acuity, some as young as 35 years. Visual fields were less affected than visual acuity. In all carriers, the average ERG amplitude to 30-Hz flashes was approximately 50% of normal, and the average exponential rate of amplitude loss over time was half that of XLRP males (3.7%/year vs. 7.4%/year, respectively). Among obligate carriers with affected fathers, sons, or both, 53 of 55 (96%) had abnormal baseline ERG results. Some carriers who initially had completely normal fundi in both eyes went on to experience moderately decreased vision, although not legal blindness. Among carriers with RPGR mutations, those with mutations in ORF15, compared with those in exons 1-14, had worse final dark adaptation thresholds and lower 0.5-Hz and 30-Hz ERG amplitudes.
Conclusions: Most carriers of XLRP had mildly or moderately reduced visual function but rarely became legally blind. In most cases, obligate carriers could be identified by ERG testing. Carriers of RPGR ORF15 mutations tended to have worse visual function than carriers of RPGR exon 1 through 14 mutations. Because XLRP carrier ERG amplitudes and decay rates over time were on average half of those of affected men, these observations were consistent with the Lyon hypothesis of random X-inactivation.
Copyright © 2015 American Academy of Ophthalmology. Published by Elsevier Inc. All rights reserved.
Conflict of interest statement
No conflicting relationship exists for any author.
Figures
![Figure 1](https://www.ncbi.nlm.nih.gov/pmc/articles/instance/4562908/bin/nihms707387f1.gif)
![Figure 2](https://www.ncbi.nlm.nih.gov/pmc/articles/instance/4562908/bin/nihms707387f2.gif)
![Figure 3](https://www.ncbi.nlm.nih.gov/pmc/articles/instance/4562908/bin/nihms707387f3.gif)
Similar articles
-
Disease course of patients with X-linked retinitis pigmentosa due to RPGR gene mutations.Invest Ophthalmol Vis Sci. 2007 Mar;48(3):1298-304. doi: 10.1167/iovs.06-0971. Invest Ophthalmol Vis Sci. 2007. PMID: 17325176
-
RP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosa.Am J Hum Genet. 2003 Nov;73(5):1131-46. doi: 10.1086/379379. Epub 2003 Oct 16. Am J Hum Genet. 2003. PMID: 14564670 Free PMC article.
-
Clinical and Electrophysiologic Characteristics of a Large Kindred with X-Linked Retinitis Pigmentosa Associated with the RPGR Locus.Ophthalmic Genet. 2015;36(4):321-6. doi: 10.3109/13816810.2014.886267. Epub 2014 Feb 20. Ophthalmic Genet. 2015. PMID: 24555744
-
Clinical characteristics of high myopia in female carriers of pathogenic RPGR mutations: a case series and review of the literature.Ophthalmic Genet. 2023 Jun;44(3):295-303. doi: 10.1080/13816810.2022.2113544. Epub 2022 Aug 26. Ophthalmic Genet. 2023. PMID: 36017691 Free PMC article. Review.
-
The relationship between visual field size and electroretinogram amplitude in retinitis pigmentosa.Invest Ophthalmol Vis Sci. 1996 Jul;37(8):1693-8. Invest Ophthalmol Vis Sci. 1996. PMID: 8675413 Review.
Cited by
-
Retinitis pigmentosa GTPase regulator-related retinopathy and gene therapy.Saudi J Ophthalmol. 2023 Oct 24;37(4):276-286. doi: 10.4103/sjopt.sjopt_168_23. eCollection 2023 Oct-Dec. Saudi J Ophthalmol. 2023. PMID: 38155670 Free PMC article.
-
RP2-Associated X-linked Retinopathy: Clinical Findings, Molecular Genetics, and Natural History in a Large Cohort of Female Carriers.Am J Ophthalmol. 2024 May;261:112-120. doi: 10.1016/j.ajo.2023.11.005. Epub 2023 Nov 16. Am J Ophthalmol. 2024. PMID: 37977507 Free PMC article.
-
RP2 X-LINKED RETINITIS PIGMENTOSA CARRIER STATE PRESENTING WITH VASCULAR LEAKAGE AND UNILATERAL MACULAR ATROPHY.Retin Cases Brief Rep. 2023 Sep 1;17(5):533-537. doi: 10.1097/ICB.0000000000001239. Epub 2022 Feb 1. Retin Cases Brief Rep. 2023. PMID: 37643038 Free PMC article.
-
Natural history of retinitis pigmentosa based on genotype, vitamin A/E supplementation, and an electroretinogram biomarker.JCI Insight. 2023 Aug 8;8(15):e167546. doi: 10.1172/jci.insight.167546. JCI Insight. 2023. PMID: 37261916 Free PMC article. Clinical Trial.
-
Asymmetric presentation with a novel RP2 gene mutation in X-Linked retinitis pigmentosa: a case report.BMC Ophthalmol. 2023 May 17;23(1):221. doi: 10.1186/s12886-023-02968-4. BMC Ophthalmol. 2023. PMID: 37198560 Free PMC article.
References
-
- Berson EL, Gouras P, Gunkel RD, Myrianthopoulos NC. Rod and cone responses in sex-linked retinitis pigmentosa. Arch Ophthalmol. 1969;81:215–225. - PubMed
-
- McKenzie DS. The Inheritance of Retinitis Pigmentosa in One Family. Trans Ophthal Soc New Zealand. 1951;5:79–82.
-
- Fishman GA, Weinberg AB, McMahon TT. X-linked recessive retinitis pigmentosa. Clinical characteristics of carriers. Arch Ophthalmol. 1986;104:1329–1335. - PubMed
-
- Brouzas D. Psychophysical tests in X-linked retinitis pigmentosa carrier status. Surv Ophthalmol. 1995;39(Suppl 1):84. - PubMed
Publication types
MeSH terms
Substances
Grants and funding
LinkOut - more resources
Full Text Sources
Other Literature Sources
Medical