Evidence map›Paper›PMID 42761588›Full record

ArticleHuman mutation2026

Uncovering the Novel Genetic Determinants of Primary Congenital Glaucoma in Pakistani Families.

Hamza Khan, Sadia Bukhari, Nauman Ahmad, Israr Ahmed Bhutto, Yousaf Jamal Mahsood, Mohsin Iqbal Haroon, Muhammad Moeez Uddin, Amal Shabir Memon, Atta Ur Rehman, Shah Zainab and 7 more

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Article in Human mutation, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0cells of the map it votes in
0citing papers in PubMed
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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

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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

17 authors.

Hamza KhanDepartment of Biological and Health Sciences, Pak Austria Fachhochschule: Institute of Applied Science and Technology, Haripur, Pakistan.ORCID https://orcid.org/0000-0003-4985-4763
Sadia BukhariAl-Ibrahim Eye Hospital, Karachi, Pakistan.
Nauman AhmadArsalan Eye Clinic, Multan, Pakistan.
Israr Ahmed BhuttoDepartment of Ophthalmology, Jinnah Postgraduate Medical Center, Karachi, Pakistan.
Yousaf Jamal MahsoodDepartment of Ophthalmology, Khyber Girls Medical College, Hayatabad Medical Complex, Peshawar, Pakistan, hmcpeshawar.com.pk.ORCID https://orcid.org/0000-0002-1239-9333
Mohsin Iqbal HaroonGlaucoma Department, Sindh Institute of Ophthalmology and Visual Sciences (SIOVS), Hyderabad, Pakistan.
Muhammad Moeez UddinPrevention of Blindness (POB) Trust Eye Hospital, Karachi, Pakistan.ORCID https://orcid.org/0009-0000-8199-5959
Amal Shabir MemonAl-Ibrahim Eye Hospital, Karachi, Pakistan.
Atta Ur RehmanDepartment of Zoology, Faculty of Biological and Health Sciences, Hazara University, Mansehra, Pakistan, hu.edu.pk.ORCID https://orcid.org/0000-0002-5591-1835
Shah ZainabDepartment of Zoology, Faculty of Biological and Health Sciences, Hazara University, Mansehra, Pakistan, hu.edu.pk.
Asad MunirDepartment of Zoology, Faculty of Biological and Health Sciences, Hazara University, Mansehra, Pakistan, hu.edu.pk.ORCID https://orcid.org/0000-0001-5461-3599
Syeda Hafiza Benish AliDepartment of Biosciences, COMSATS University Islamabad, Islamabad, Pakistan, comsats.edu.pk.ORCID https://orcid.org/0000-0002-8285-3482
Muhammad AjmalDepartment of Biosciences, COMSATS University Islamabad, Islamabad, Pakistan, comsats.edu.pk.ORCID https://orcid.org/0000-0001-5207-2469
Raheel QamarDepartment of Biosciences, COMSATS University Islamabad, Islamabad, Pakistan, comsats.edu.pk.
Jibril HirboDepartment of Medicine, Vanderbilt University Medical Center, Nashville, Tennessee, USA, vanderbilt.edu.
Maleeha AzamDepartment of Biosciences, COMSATS University Islamabad, Islamabad, Pakistan, comsats.edu.pk.ORCID https://orcid.org/0000-0003-0170-3325
Humaira AyubDepartment of Biological and Health Sciences, Pak Austria Fachhochschule: Institute of Applied Science and Technology, Haripur, Pakistan.ORCID https://orcid.org/0000-0002-4320-7242

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Primary congenital glaucoma (PCG) is an early-onset eye disorder, particularly prevalent in populations with high consanguinity rates. In Pakistan, approximately 63% of marriages are reported to be consanguineous, contributing to an increased burden of autosomal-recessive disorders. The genetic basis of PCG in the highly consanguineous Pakistani population is largely unexplored. This study was conducted to broaden the genetic landscape of PCG in families of Pakistani origin. PCG families identified through clinical characterization were recruited in the study. All probands were initially investigated for

Indexed as

Cytochrome P-450 CYP1B1Genetic Predisposition to DiseaseGlaucomaConsanguinityExome SequencingFemaleGenetic Association StudiesHumansMaleMutationPakistanPedigreePolymorphism, Single NucleotideCYP1B1 protein, humanCytochrome P-450 CYP1B1congenital glaucomaCYP1B1genetic variationslinkage analysisnovel locuswhole-exome sequencing

Identifiers

PMID42761588
PMCPMC13586781

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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.