Evidence map›Paper›PMID 40535027›Full record

ArticleCase reports in ophthalmology

Exclusively Macular Phenotype of Non-Syndromic

Sean Ghiam, Ryan Zukerman, Morgan Brzozowski, Michelle Alabek, Richard Hagan, Avigail Beryozkin, José-Alain Sahel, Boris Rosin

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PubMed Full text at PMC Publisher
In one paragraph

Article in Case reports in ophthalmology. 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
–field-weighted citation impact
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.

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

8 authors.

Sean GhiamDepartment of Ophthalmology, UPMC Eye Center, University of Pittsburgh, Pittsburgh, PA, USA.
Ryan ZukermanDepartment of Ophthalmology, UPMC Eye Center, University of Pittsburgh, Pittsburgh, PA, USA.
Morgan BrzozowskiDepartment of Ophthalmology, UPMC Eye Center, University of Pittsburgh, Pittsburgh, PA, USA.
Michelle AlabekDepartment of Ophthalmology, UPMC Eye Center, University of Pittsburgh, Pittsburgh, PA, USA.
Richard HaganDepartment of Ophthalmology, UPMC Eye Center, University of Pittsburgh, Pittsburgh, PA, USA.
Avigail BeryozkinDepartment of Ophthalmology, UPMC Eye Center, University of Pittsburgh, Pittsburgh, PA, USA.
José-Alain SahelDepartment of Ophthalmology, UPMC Eye Center, University of Pittsburgh, Pittsburgh, PA, USA.
Boris RosinDepartment of Ophthalmology, UPMC Eye Center, University of Pittsburgh, Pittsburgh, PA, USA.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Introduction: The purpose of this report was to highlight the clinical phenotype and imaging findings in a patient with an exclusively macular phenotype of non-syndromic Case Presentation: A 47-year-old male with progressive vision loss exhibited symptoms indicative of maculopathy. These included decreased central vision, visual distortions, photophobia, poor depth perception, glare, impaired dark/light adaptation, difficulty reading, depressed multifocal ERG responses, and central ellipsoid dropout on SD-OCT. Evaluation included genetic testing, segregation analysis, and a complete ophthalmic examination, including slit-lamp exam, dilated fundus exam, FAF, SD-OCT, ERG, and Humphrey 24-2 visual fields. A 351 gene retinal dystrophy panel revealed two variants in Conclusion: This case underscores the importance of genetic testing in confirming variant inheritance and describes the clinical phenotype associated with MFSD8 c.291G>C (p.Trp97Cys). The variant contributes to a pathological non-syndromic phenotype when in trans with a pathogenic variant. Given the syndromic variants of

Indexed as

Case reportMFSD8-related maculopathyMutationRetinal dystrophyVariant

Identifiers

PMID40535027
PMCPMC12176367

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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.