Ophthalmic and Genetic Features of Bardet Biedl Syndrome in a German Cohort.

doi:10.3390/genes13071218

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Article

Ophthalmic and Genetic Features of Bardet Biedl Syndrome in a German Cohort.

Genes - 8 Jul 2022

Nasser Fadi, Kohl Susanne, Kurtenbach Anne, Kempf Melanie, Biskup Saskia, Zuleger Theresia, Haack Tobias B, Weisschuh Nicole, Stingl Katarina, Zrenner Eberhart

Abstract excerpt

The aim of this study was to characterize the ophthalmic and genetic features of Bardet Biedl (BBS) syndrome in a cohort of patients from a German specialized ophthalmic care center. Sixty-one patients, aged 5−56 years, underwent a detailed ophthalmic examination including visual acuity and color vision testing, electroretinography (ERG), visually evoked potential recording (VEP), fundus examination, and spectral...

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PMID: 35886001
DOI: 10.3390/genes13071218
PMCID: PMC9322102

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