Article
Bardet-Biedl syndrome with chorioretinal coloboma: a case series and review of literature.
Ophthalmic genetics - 1 Dec 2024
Chattannavar Goura, Ger Marina, Balasubramanian Jeyapoorani, Mandal Sohini, Jalali Subhadra, Takkar Brijesh, Pisuchpen Phattrawan, de Guimaraes Thales A C, Capasso Jenina E, Kumar Padhy Srikanta, Levin Alex V
Abstract excerpt
INTRODUCTION: Bardet-Biedl Syndrome (BBS) is a ciliopathy causing developmental defects and progressive retinal dystrophy, whereas choroidal coloboma is a developmental defect causing structural deficiency in the posterior retina. Both are rarely reported together. METHODS: Here, we describe the phenotype and genotype of three unrelated patients with co-occurrence of Bardet-Biedl Syndrome and chorioretinal...
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