Evidence map›Paper›PMID 33808351›Full record

ArticleGenes2021

Prospective Study of the Phenotypic and Mutational Spectrum of Ocular Albinism and Oculocutaneous Albinism.

Hwei Wuen Chan, Elena R Schiff, Vijay K Tailor, Samantha Malka, Magella M Neveu, Maria Theodorou, Mariya Moosajee

Open access · goldAbstract read
In one paragraph

Article in Genes, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.

0numbers the graph read from it
0cells of the map it votes in
12citing papers in PubMed
1.4field-weighted citation impact, top 21% 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

12 citing papers in PubMed, 19 citations in OpenAlex.

  1. Article
  2. Article
  3. Review
  4. Article
  5. Genes · 2025
    Review
  6. Article
  7. Genotype-Phenotype Correlation Model for the Spectrum ofDiagnostics (Basel, Switzerland) · 2024
    Article
  8. Foveal Hypoplasia inInternational journal of molecular sciences · 2023
    Article
  9. Article
  10. Article
  11. Review
  12. Two Novel HomozygousLife (Basel, Switzerland) · 2021
    Article
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

7 authors at 1 institution in 2 countries.

Hwei Wuen ChanMoorfields Eye Hospital NHS Foundation Trust, London EC1V 2PD, UK.ORCID 0000-0001-8079-8398
Elena R SchiffMoorfields Eye Hospital NHS Foundation Trust, London EC1V 2PD, UK.ORCID 0000-0002-9848-1302
Vijay K TailorMoorfields Eye Hospital NHS Foundation Trust, London EC1V 2PD, UK.ORCID 0000-0002-1254-3462
Samantha MalkaMoorfields Eye Hospital NHS Foundation Trust, London EC1V 2PD, UK.ORCID 0000-0003-0020-4049
Magella M NeveuMoorfields Eye Hospital NHS Foundation Trust, London EC1V 2PD, UK.
Maria TheodorouMoorfields Eye Hospital NHS Foundation Trust, London EC1V 2PD, UK.
Mariya MoosajeeMoorfields Eye Hospital NHS Foundation Trust, London EC1V 2PD, UK.ORCID 0000-0003-1688-5360
Moorfields Eye Hospital NHS Foundation Trust · GB

Funding

Department of HealthWellcome Trust 205174/Z/16/Z
6 · The paper itself

Abstract

Albinism encompasses a group of hereditary disorders characterized by reduced or absent ocular pigment and variable skin and/or hair involvement, with syndromic forms such as Hermansky-Pudlak syndrome and Chédiak-Higashi syndrome. Autosomal recessive oculocutaneous albinism (OCA) is phenotypically and genetically heterogenous (associated with seven genes). X-linked ocular albinism (OA) is associated with only one gene,

Indexed as

MutationAdolescentAdultAlbinism, OcularAlbinism, OculocutaneousChildChild, PreschoolDiagnosis, DifferentialFemaleGenetic TestingHumansInfantMalePedigreePhenotypeProspective Studiesalbinismchiasmal misroutingfoveal hypoplasiaHermansky–Pudlak syndromenystagmusocular albinismoculocutaneous albinism

Identifiers

PMID33808351
PMCPMC8065601
OpenAlexW3150829490

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.