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Article

A rare optineurin mutation in an Indian family with coexistence of JOAG and PCG.

Indian journal of ophthalmology - 1 Aug 2023

Yadav Manoj, Yadav Anshu, Bhardwaj Aarti, Dhull Chand Singh, Sachdeva Sumit, Yadav Ritu, Tanwar Mukesh

Abstract excerpt

Purpose: This study focused on the genetic screening of Myocilin (MYOC), Cytochrome P450 family 1 subfamily B member 1 (CYP1B1), Optineurin (OPTN), and SIX homeobox 6 (SIX6) genes in a family with coexistence of primary congenital glaucoma (PCG) and juvenile open-angle glaucoma (JOAG). Methods: Sanger sequencing was used to examine the coding region of all four genes. Six different online available algorithms...

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Identifiers

PMID: 37530275
DOI: 10.4103/IJO.IJO_3383_22
PMCID: PMC10538844

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