Evidence map›Paper›PMID 34946802›Full record

ArticleGenes2021

Beyond Sector Retinitis Pigmentosa: Expanding the Phenotype and Natural History of the Rhodopsin Gene Codon 106 Mutation (Gly-to-Arg) in Autosomal Dominant Retinitis Pigmentosa.

Brian G Ballios, Emily M Place, Luis Martinez-Velazquez, Eric A Pierce, Jason I Comander, Rachel M Huckfeldt

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 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
0.5field-weighted citation impact, top 37% 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, 10 citations in OpenAlex.

  1. Trial
  2. Article
  3. Expanding the clinical and genetic spectrum ofExperimental biology and medicine (Maywood, N.J.) · 2026
    Article
  4. Article
  5. Article
  6. 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

6 authors at 1 institution in 2 countries.

Brian G BalliosOcular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, MA 02114, USA.ORCID 0000-0002-4644-3339
Emily M PlaceOcular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, MA 02114, USA.
Luis Martinez-VelazquezOcular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, MA 02114, USA.
Eric A PierceOcular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, MA 02114, USA.
Jason I ComanderOcular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, MA 02114, USA.
Rachel M HuckfeldtOcular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, MA 02114, USA.ORCID 0000-0002-9220-2261
Massachusetts Eye and Ear Infirmary · US

Funding

Precision Medicine for Inherited Retinal DegenerationsR01EY012910 · NEI · UNIVERSITY OF PENNSYLVANIA · PI Eric A Pierce · 1999 to 2026
$15.9M
P30 Core Grant for Vision ResearchP30EY014104 · NEI · MASSACHUSETTS EYE AND EAR INFIRMARY · PI Janey L Wiggs · 2002 to 2026
$15.1M
Genetic Causes and Genetic Modifiers of Inherited Retinal DegenerationsR01EY026904 · NEI · MASSACHUSETTS EYE AND EAR INFIRMARY · PI BUJAKOWSKA, KINGA, PIERCE, ERIC A · 2017 to 2021
$3.0M
Improving the throughput of diagnosis and treatment of inherited diseases of the retinaR01EY031036 · NEI · MASSACHUSETTS EYE AND EAR INFIRMARY · PI COMANDER, JASON · 2020 to 2024
$2.1M
NEI NIH HHS P30EY014104NEI NIH HHS R01 EY012910NEI NIH HHS R01EY012910NEI NIH HHS R01EY026904NEI NIH HHS R01 EY031036NEI NIH HHS R01EY031036
6 · The paper itself

Abstract

Sector and pericentral are two rare, regional forms of retinitis pigmentosa (RP). While usually defined as stable or only very slowly progressing, the available literature to support this claim is limited. Additionally, few studies have analyzed the spectrum of disease within a particular genotype. We identified all cases (9 patients) with an autosomal dominant Rhodopsin variant previously associated with sector RP (

Indexed as

AdolescentAdultCodonFemaleFundus OculiGenes, DominantHumansMaleMiddle AgedMutationPhenotypeRetinitis PigmentosaRhodopsinVisual AcuityVisual FieldsVisual Field TestsCodonRhodopsinautosomal dominantinherited retinal diseasepericentral retinitis pigmentosarhodopsinsector retinitis pigmentosa

Identifiers

PMID34946802
PMCPMC8701931
OpenAlexW3215985160

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.