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

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

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 <i>TIMP3</i> pathogenic variants. Two probands with Sorsby fundus dystrophy and three first-degree relatives underwent ocular examination...

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Bibliographic Details
Main Authors: Andrea Vergaro, Monika Pankievic, Jana Jedlickova, Lubica Dudakova, Marie Vajter, Michel Michaelides, Martin Meliska, Pavel Nemec, Daniela Babincova, Bohdan Kousal, Petra Liskova
Format: Article
Language:English
Published: MDPI AG 2024-03-01
Series:International Journal of Molecular Sciences
Subjects:
Sorsby fundus dystrophy
choroidal neovascular membrane
TIMP3
pathogenic variants
optical coherence tomography angiography
Online Access:https://www.mdpi.com/1422-0067/25/7/3744

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https://www.mdpi.com/1422-0067/25/7/3744

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