June 2023
Volume 64, Issue 8
Open Access
ARVO Annual Meeting Abstract  |   June 2023
RP2-associated X-linked Retinopathy: Clinical Findings, Molecular Genetics, and Natural History in a Large Cohort of Female Carriers
Author Affiliations & Notes
  • Michalis Georgiou
    Moorfields Eye Hospital NHS Foundation Trust, London, London, United Kingdom
    University of Arkansas for Medical Sciences, Little Rock, Arkansas, United States
  • Anthony G Robson
    Moorfields Eye Hospital NHS Foundation Trust, London, London, United Kingdom
  • Sami H Uwaydat
    University of Arkansas for Medical Sciences, Little Rock, Arkansas, United States
  • NIKOLAS PONTIKOS
    University College London, London, London, United Kingdom
  • Omar Abdul Rahman Mahroo
    University College London, London, London, United Kingdom
    Moorfields Eye Hospital NHS Foundation Trust, London, London, United Kingdom
  • Michael E Cheetham
    University College London, London, London, United Kingdom
  • Andrew R Webster
    University College London, London, London, United Kingdom
    Moorfields Eye Hospital NHS Foundation Trust, London, London, United Kingdom
  • Alison J Hardcastle
    University College London, London, London, United Kingdom
  • Michel Michaelides
    University College London, London, London, United Kingdom
    Moorfields Eye Hospital NHS Foundation Trust, London, London, United Kingdom
  • Footnotes
    Commercial Relationships   Michalis Georgiou None; Anthony Robson None; Sami Uwaydat None; NIKOLAS PONTIKOS None; Omar Mahroo None; Michael Cheetham None; Andrew Webster None; Alison Hardcastle None; Michel Michaelides None
  • Footnotes
    Support  None
Investigative Ophthalmology & Visual Science June 2023, Vol.64, 4638. doi:
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      Michalis Georgiou, Anthony G Robson, Sami H Uwaydat, NIKOLAS PONTIKOS, Omar Abdul Rahman Mahroo, Michael E Cheetham, Andrew R Webster, Alison J Hardcastle, Michel Michaelides; RP2-associated X-linked Retinopathy: Clinical Findings, Molecular Genetics, and Natural History in a Large Cohort of Female Carriers. Invest. Ophthalmol. Vis. Sci. 2023;64(8):4638.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

Purpose : RP2-retinopathy typically causes severe early onset retinitis pigmentosa (RP) in affected males. However, there is a scarcity of reports describing the clinical phenotype of female carriers. We tested the hypothesis that RP2-variants manifest in female carriers with a range of functional and anatomical characteristics.

Methods : In this retrospective case series, females with disease-causing variants in the RP2 gene were identified from investigation of pedigrees affected by RP2-retinopathy. All case notes, results of molecular genetic testing, and retinal imaging (fundus autofluorescence (FAF) imaging and optical coherence tomography (OCT)) were reviewed. Clinical findings and retinal phenotype are reported.

Results : Forty pedigrees were investigated. Twenty-nine pedigrees had obligate carriers or molecularly confirmed female members with recorded relevant history and/or eye examination. For 8 pedigrees data were available only from history, with patients reporting affected female relatives with RP in 4 cases and unaffected female relatives in the other 4. Twenty-seven females from 21 pedigrees, were examined by a retinal genetics specialist. Twenty-two patients (81%) reported no complaints and had normal vision, and 5 patients had RP associated complaints (19%). Eight patients had normal fundus examination (30%, Figure A), 9 had a tapetal-like reflex (TLR, 33%, Figure B), 5 had scattered peripheral pigmentation (19%), and the 5 symptomatic patients had fundus findings compatible with RP (19%, Figure C). All asymptomatic patients had a continuous ellipsoid zone on OCT, when available.

Conclusions : This study details the clinical phenotype of RP2 retinopathy in a large cohort of females. Most carriers were asymptomatic, exhibiting subclinical characteristics such as TLR and pigmentary changes. However, female carriers of RP2-variants can manifest RP. Family history of affected females with RP does not exclude X-linked disease. The phenotypic spectrum as described herein has prognostic and counselling implications for RP2-carriers and patients.

This abstract was presented at the 2023 ARVO Annual Meeting, held in New Orleans, LA, April 23-27, 2023.

 

Disease spectrum in RP2 carriers: (A) Color fundus photographs with normal appearance. (B) Fundus autofluorescence (FAF) imaging highlighting the tapetal-like reflex, and (C) FAF showing peripapillary atrophy and areas of decreased signal at the fovea and midperiphery, compatible with retinitis pigmentosa.

Disease spectrum in RP2 carriers: (A) Color fundus photographs with normal appearance. (B) Fundus autofluorescence (FAF) imaging highlighting the tapetal-like reflex, and (C) FAF showing peripapillary atrophy and areas of decreased signal at the fovea and midperiphery, compatible with retinitis pigmentosa.

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