Evidence map›Paper›PMID 37977507›Full record

ArticleAmerican journal of ophthalmology2024

RP2-Associated X-linked Retinopathy: Clinical Findings, Molecular Genetics, and Natural History in a Large Cohort of Female Carriers.

Michalis Georgiou, Anthony G Robson, Sami H Uwaydat, Marco H Ji, Ahmed F Shakarchi, Nikolas Pontikos, Omar A Mahroo, Michael E Cheetham, Andrew R Webster, Alison J Hardcastle and 1 more

Open access · hybridAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in American journal of ophthalmology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
0.9field-weighted citation impact, top 24% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

6 citing papers in PubMed, 6 citations in OpenAlex.

  1. Article
  2. Review
  3. Review
  4. Review
  5. Article
  6. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

11 authors at 4 institutions in 4 countries.

Michalis GeorgiouFrom the Moorfields Eye Hospital (M.G., A.G.R., N.P., O.A.M., A.R.W., M.M.), London, United Kingdeom; University College London Institute of Ophthalmology (M.G., A.G.R., N.P., O.A.M., M.E.C., A.R.W., A.J.H., M.M.), University College London, London, United Kingdom; Jones Eye Institute (M.G., S.H.U., M.H.J., A.F.S.), University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA.
Anthony G RobsonFrom the Moorfields Eye Hospital (M.G., A.G.R., N.P., O.A.M., A.R.W., M.M.), London, United Kingdeom; University College London Institute of Ophthalmology (M.G., A.G.R., N.P., O.A.M., M.E.C., A.R.W., A.J.H., M.M.), University College London, London, United Kingdom.
Sami H UwaydatJones Eye Institute (M.G., S.H.U., M.H.J., A.F.S.), University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA.
Marco H JiJones Eye Institute (M.G., S.H.U., M.H.J., A.F.S.), University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA.
Ahmed F ShakarchiJones Eye Institute (M.G., S.H.U., M.H.J., A.F.S.), University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA.
Nikolas PontikosUniversity College London Institute of Ophthalmology (M.G., A.G.R., N.P., O.A.M., M.E.C., A.R.W., A.J.H., M.M.), University College London, London, United Kingdom.
Omar A MahrooFrom the Moorfields Eye Hospital (M.G., A.G.R., N.P., O.A.M., A.R.W., M.M.), London, United Kingdeom; University College London Institute of Ophthalmology (M.G., A.G.R., N.P., O.A.M., M.E.C., A.R.W., A.J.H., M.M.), University College London, London, United Kingdom.
Michael E CheethamUniversity College London Institute of Ophthalmology (M.G., A.G.R., N.P., O.A.M., M.E.C., A.R.W., A.J.H., M.M.), University College London, London, United Kingdom.
Andrew R WebsterFrom the Moorfields Eye Hospital (M.G., A.G.R., N.P., O.A.M., A.R.W., M.M.), London, United Kingdeom; University College London Institute of Ophthalmology (M.G., A.G.R., N.P., O.A.M., M.E.C., A.R.W., A.J.H., M.M.), University College London, London, United Kingdom.
Alison J HardcastleFrom the Moorfields Eye Hospital (M.G., A.G.R., N.P., O.A.M., A.R.W., M.M.), London, United Kingdeom; University College London Institute of Ophthalmology (M.G., A.G.R., N.P., O.A.M., M.E.C., A.R.W., A.J.H., M.M.), University College London, London, United Kingdom.
Michel MichaelidesFrom the Moorfields Eye Hospital (M.G., A.G.R., N.P., O.A.M., A.R.W., M.M.), London, United Kingdeom; University College London Institute of Ophthalmology (M.G., A.G.R., N.P., O.A.M., M.E.C., A.R.W., A.J.H., M.M.), University College London, London, United Kingdom. Electronic address: michel.michaelides@ucl.ac.uk.
Moorfields Eye Hospital NHS Foundation Trust · GBUniversity of Arkansas for Medical Sciences · USDr. M.G.R. Educational and Research Institute · INInstitute of Ophthalmology · MX

Funding

Wellcome Trust
6 · The paper itself

Abstract

purposeRP2-associated 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 anatomic characteristics.

designRetrospective case series.

methodsFemales with disease-causing variants in RP2 were identified from investigation of pedigrees affected by RP2 retinopathy. All case notes and results of molecular genetic testing, retinal imaging (fundus autofluorescence imaging, optical coherence tomography (OCT)), and electrophysiology were reviewed.

resultsForty pedigrees were investigated. Twenty-nine pedigrees had obligate carriers or molecularly confirmed female members with recorded relevant history and/or 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 cases. Twenty-seven females from 21 pedigrees were examined by a retinal genetics specialist. Twenty-three patients (85%) reported no complaints and had normal vision and 4 patients had RP-associated complaints (15%). Eight patients had normal fundus examination (30%), 10 had a tapetal-like reflex (TLR; 37%), 5 had scattered peripheral pigmentation (19%), and the 4 symptomatic patients had fundus findings compatible with RP (15%). All asymptomatic patients with normal fundus, TLR, or asymptomatic pigmentary changes had a continuous ellipsoid zone on OCT when available. The electroretinograms revealed mild to severe photoreceptor dysfunction in 9 of 11 subjects, often asymmetrical, including 5 with pattern electroretinogram evidence of symmetrical (n = 4) or unilateral (n = 1 subject) macular dysfunction.

conclusionsMost 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.

Indexed as

Retinal DiseasesRetinitis PigmentosaElectroretinographyEye ProteinsFemaleGTP-Binding ProteinsHumansMaleMembrane ProteinsMolecular BiologyPedigreeRetinaRetrospective StudiesEye ProteinsGTP-Binding ProteinsMembrane ProteinsRP2 protein, human

Identifiers

PMID37977507
PMCPMC11139645
OpenAlexW4388719383

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.