Evidence map›Paper›PMID 33712029›Full record

ArticleOrphanet journal of rare diseases2021

Extending the phenotypic spectrum of PRPF8, PRPH2, RP1 and RPGR, and the genotypic spectrum of early-onset severe retinal dystrophy.

Michalis Georgiou, Naser Ali, Elizabeth Yang, Parampal S Grewal, Tryfon Rotsos, Nikolas Pontikos, Anthony G Robson, Michel Michaelides

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

Article in Orphanet journal of rare diseases, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.

0numbers the graph read from it
0cells of the map it votes in
9citing papers in PubMed
0.9field-weighted citation impact, top 28% 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

9 citing papers in PubMed, 14 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
  4. Article
  5. International journal of molecular sciences · 2024
    Article
  6. Cold Spring Harbor perspectives in medicine · 2023
    Review
  7. Review
  8. Genetic dissection of non-syndromic retinitis pigmentosa.Indian journal of ophthalmology · 2022
    Review
  9. Observational
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

8 authors at 3 institutions in 2 countries.

Michalis GeorgiouUCL Institute of Ophthalmology, University College London, 11-43 Bath Street, London, EC1V 9EL, UK.
Naser AliMoorfields Eye Hospital, London, UK.
Elizabeth YangMoorfields Eye Hospital, London, UK.
Parampal S GrewalMoorfields Eye Hospital, London, UK.
Tryfon RotsosFirst Division of Ophthalmology, General Hospital of Athens, National and Kapodistrian University of Athens, Athens, Greece.
Nikolas PontikosUCL Institute of Ophthalmology, University College London, 11-43 Bath Street, London, EC1V 9EL, UK.
Anthony G RobsonUCL Institute of Ophthalmology, University College London, 11-43 Bath Street, London, EC1V 9EL, UK.
Michel MichaelidesUCL Institute of Ophthalmology, University College London, 11-43 Bath Street, London, EC1V 9EL, UK. michel.michaelides@ucl.ac.uk.
University College London · GBMoorfields Eye Hospital · GBNational and Kapodistrian University of Athens · GR

Funding

Wellcome TrustWellcome Trust 099173/Z/12/Z
6 · The paper itself

Abstract

purposeTo present the detailed retinal phenotype of patients with Leber Congenital Amaurosis/Early-Onset Severe Retinal Dystrophy (LCA/EOSRD) caused by sequence variants in four genes, either not (n = 1) or very rarely (n = 3) previously associated with the disease.

methodsRetrospective case series of LCA/EOSRD from four pedigrees. Chart review of clinical notes, multimodal retinal imaging, electrophysiology, and molecular genetic testing at a single tertiary referral center (Moorfields Eye Hospital, London, UK).

resultsThe mean age of presentation was 3 months of age, with disease onset in the first year of life in all cases. Molecular genetic testing revealed the following disease-causing variants: PRPF8 (heterozygous c.5804G > A), PRPH2 (homozygous c.620_627delinsTA, novel variant), RP1 (homozygous c.4147_4151delGGATT, novel variant) and RPGR (heterozygous c.1894_1897delGACA). PRPF8, PRPH2, and RP1 variants have very rarely been reported, either as unique cases or case reports, with limited clinical data presented. RPGR variants have not previously been associated with LCA/EOSRD. Clinical history and detailed retinal imaging are presented.

conclusionsThe reported cases extend the phenotypic spectrum of PRPF8-, PRPH2-, RP1-, and RPGR-associated disease, and the genotypic spectrum of LCA/EOSRD. The study highlights the importance of retinal and functional phenotyping, and the importance of specific genetic diagnosis to potential future therapy.

Indexed as

Eye ProteinsRetinal DystrophiesHumansInfantMicrotubule-Associated ProteinsMutationPedigreePhenotypeRetrospective StudiesRNA-Binding ProteinsEye ProteinsMicrotubule-Associated ProteinsPRPF8 protein, humanRNA-Binding ProteinsRP1 protein, humanRPGR protein, humanChildhood blindnessEarly onset retinal dystrophyEOSRDInherited retinal dystrophyLCALeber congenital amaurosisPRPF8PRPH2RP1RPGRSECORDSevere early childhood onset retinal dystrophy

Identifiers

PMID33712029
PMCPMC7953775
OpenAlexW3134402484

What OpenQuestion holds

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LicenceCC BY
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Registered trials

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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.