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Article

Thrombospondin Mutations and Patients With Primary Congenital Glaucoma in a United States Population.

Journal of glaucoma - 1 Nov 2023

Boese Erin A, Alward Wallace L M, Kwon Young H, Roos Ben R, Stone Edwin M, Scheetz Todd E, Fingert John H

Abstract excerpt

Mutations in the thrombospondin 1 ( THBS1 ) gene have been previously reported in primary congenital glaucoma (PCG) pedigrees that exhibit autosomal dominant inheritance with low penetrance. We sought to determine the role of THBS1 mutations in a cohort of 20 patients with PCG and 362 normal controls from Iowa using a combination of Sanger sequencing and whole exome sequencing. We detected 16 different THBS1...

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Identifiers

PMID: 37327471
DOI: 10.1097/IJG.0000000000002254

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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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