Evidence map›Paper›PMID 32154435›Full record

ArticleAmerican journal of ophthalmology case reports2020

Pseudodominance in two families with

Gulunay Kiray, Micah Rapata, Dianne Sharp, Andrea L Vincent

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

Article in American journal of ophthalmology case reports, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
0.1field-weighted citation impact, top 57% 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

0 citing papers in PubMed, 1 citations in OpenAlex.

No citing paper in PubMed yet.

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

4 authors at 2 institutions in 1 country.

Gulunay KirayDepartment of Ophthalmology, New Zealand National Eye Centre, Faculty of Medical and Health Sciences, University of Auckland, Building 504, Level 4, 85 Park Road, Grafton, 1142, Auckland, New Zealand.
Micah RapataDepartment of Ophthalmology, New Zealand National Eye Centre, Faculty of Medical and Health Sciences, University of Auckland, Building 504, Level 4, 85 Park Road, Grafton, 1142, Auckland, New Zealand.
Dianne SharpEye Clinic, Greenlane Clinical Centre, Auckland District Health Board, 214 Green Ln W, Epsom, Auckland, 1051, New Zealand.
Andrea L VincentDepartment of Ophthalmology, New Zealand National Eye Centre, Faculty of Medical and Health Sciences, University of Auckland, Building 504, Level 4, 85 Park Road, Grafton, 1142, Auckland, New Zealand.
University of Auckland · NZGreenlane Clinical Centre · NZ

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

purposeTo describe the phenotypic and genotypic characteristics of two families with cone dystrophy with supernormal rod responses (CDSRR) presenting with a pseudodominant inheritance of disease. OBSERVATIONS: Three affected members from each family were ascertained. Family 1 of Egyptian ancestry showed consanguinity, and Family 2 was of Northern Iraqi ancestry. Both families showed pseudodominance in their pedigrees.Individuals presented with reduced visual acuity and nyctalopia. Macular disturbances were present in all, varying from a decreased foveal reflex to geographic atrophy. Electrophysiology showed reduced scotopic b-wave amplitudes and prolonged implicit times, and characteristic elevated b-wave amplitudes with high intensity flashes in all individuals.Genetic analysis of Family 1 identified a complete homozygous deletion of the CONCLUSIONS AND IMPORTANCE: To our knowledge this is the first report of pseudodominance of CDSRR, with a novel pathogenic

Indexed as

Cone dystrophyElectrophysiologyGeneticsKCNV2Mutation

Identifiers

PMID32154435
PMCPMC7057165
OpenAlexW3007521458

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.