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Novel compound heterozygous pathogenic BBS5 variants in Filipino siblings with Bardet-Biedl syndrome (BBS).

Ophthalmic genetics - 1 Dec 2020

Torrefranca Aramis B, Santiago Alvina Pauline D, Lingao Michelle D, Racoma Marie Julianne C

Abstract excerpt

PURPOSE: Bardet-Biedl syndrome (BBS) is rare in the Philippines and only limited information on the prevalent subtypes is available as yet. The purpose of this study is to present the clinical characteristics of two Filipino siblings presenting with mutations in BBS5. PATIENTS AND METHODS: The Filipino female siblings, aged 11 and 14 years underwent comprehensive ophthalmologic evaluation. Fundus photography,...

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PMID: 32811249
DOI: 10.1080/13816810.2020.1810282

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