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Article

Novel mutations in LTBP2 identified in familial cases of primary congenital glaucoma.

Molecular vision - 1 Jan 2020

Rauf Bushra, Irum Bushra, Khan Shahid Y, Kabir Firoz, Naeem Muhammad Asif, Riazuddin Sheikh, Ayyagari Radha, Riazuddin S Amer

Abstract excerpt

Purpose: Primary congenital glaucoma (PCG) is a genetically heterogeneous disorder caused by developmental defects in the anterior chamber and trabecular meshwork. This disease is an important cause of childhood blindness. In this study, we aim to identify the genetic determinants of PCG in three consanguineous families of Pakistani descent. Methods: Affected members of all three families underwent detailed...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32165823
PMCID: PMC7043638

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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