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Article

Expanding the Genetic Landscape of Congenital Stationary Night Blindness Through the Analysis of Consanguineous Pakistani Families.

Genes - 1 May 2026

Parveen Razia, Iqbal Muhammad, Khan Shahbaz, Rashid Abdur, Frederiksen Helen Nabiryo, Oreshkov Sergey, Mustafa Ghulam, Naeem Muhammad Asif, Baig Hafiz Muhammad Azhar, Ansar Muhammad

Abstract excerpt

Background/Objectives: The current study was designed to identify the underlying genetic causes of congenital stationary night blindness (CSNB) in the indigenous consanguineous families from the Southern Punjab region of Pakistan, a population where the inherited retinal disorders are relatively common. Methods: A detailed questionnaire and medical examination were done to check the presence of CSNB in the...

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Topics

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Share to Consanguinity
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 42194996
DOI: 10.3390/genes17050539
PMCID: PMC13205639

Genes

GPR179
GRK1
SAG
SLC24A1
TRPM1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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