Evidence map›Paper›PMID 41953648›Full record

ArticleMolecular vision2026

Exploring the molecular basis of microphthalmia and anophthalmia: Insights from an Egyptian cohort.

Gehad Elmakkawy, Amira Nabil, Karim Nabil, Asmaa Kenawy Amin, David Maskill, Manir Ali, Daniel Schorderet, Nader Bayoumi, Nihal Shakankiri, Ebtesam Abdalla

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PubMed Full text at PMC
In one paragraph

Article in Molecular vision, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. 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

10 authors.

Gehad ElmakkawyDepartment of Human Genetics, Medical Research Institute, Alexandria University.
Amira NabilDepartment of Human Genetics, Medical Research Institute, Alexandria University.
Karim NabilDepartment of Ophthalmology, Faculty of Medicine, Alexandria University, Egypt.
Asmaa Kenawy AminDepartment of Human Genetics, Medical Research Institute, Alexandria University.
David MaskillLeeds Institute of Medical Research, University of Leeds, St. James's University Hospital, Leeds, UK.
Manir AliLeeds Institute of Medical Research, University of Leeds, St. James's University Hospital, Leeds, UK.
Daniel SchorderetSchool of Life Science, Ecole Polytechnique Fédérale de Lausanne (EPFL), and University of Lausanne, Lausanne, Switzerland.
Nader BayoumiDepartment of Ophthalmology, Faculty of Medicine, Alexandria University, Egypt.
Nihal ShakankiriDepartment of Ophthalmology, Faculty of Medicine, Alexandria University, Egypt.
Ebtesam AbdallaDepartment of Human Genetics, Medical Research Institute, Alexandria University.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Purpose: The aim of this study was to gain insight into the molecular spectrum of anophthalmia and microphthalmia (A/M) in the Egyptian population. Methods: We studied a cohort of 34 patients from 31 unrelated families affected by the A/M spectrum. All patients underwent a thorough clinical examination, ophthalmological assessment, and genetic testing including conventional karyotyping and exome sequencing (ES). Results: Chromosomal anomalies were identified in six patients. ES was performed on the remaining cases, revealing potentially causative variants in 13 families. The implicated genes were Conclusions: Our findings confirm that genetic factors are a predominant cause of both syndromic and non-syndromic A/M and underscore the value of ES in uncovering the molecular basis of this spectrum. By reporting novel variants and unusual phenotypes within our cohort, we contribute to expanding both the mutational landscape and the phenotypic spectrum of A/M associated syndromes.

Indexed as

AnophthalmosMicrophthalmosChildChild, PreschoolChromosome AberrationsCohort StudiesEgyptExome SequencingFemaleHumansInfantKaryotypingMaleMutationPedigreePhenotype

Identifiers

PMID41953648
PMCPMC13056010

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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.