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Article

Disease-Causing TIMP3 Variants and Deep Phenotyping of Two Czech Families with Sorsby Fundus Dystrophy Associated with Novel p.(Tyr152Cys) Mutation.

International journal of molecular sciences - 27 Mar 2024

Vergaro Andrea, Pankievic Monika, Jedlickova Jana, Dudakova Lubica, Vajter Marie, Michaelides Michel, Meliska Martin, Nemec Pavel, Babincova Daniela, Kousal Bohdan, Liskova Petra

Abstract excerpt

We aim to report the ocular phenotype and molecular genetic findings in two Czech families with Sorsby fundus dystrophy and to review all the reported TIMP3 pathogenic variants. Two probands with Sorsby fundus dystrophy and three first-degree relatives underwent ocular examination and retinal imaging, including optical coherence tomography angiography. The DNA of the first proband was screened using a targeted...

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Identifiers

PMID: 38612555
DOI: 10.3390/ijms25073744
PMCID: PMC11011298

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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