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Article

The Phenotypic Spectrum of Patients with PHARC Syndrome Due to Variants in ABHD12: An Ophthalmic Perspective.

Genes - 11 Sept 2021

Nguyen Xuan-Thanh-An, Almushattat Hind, Strubbe Ine, Georgiou Michalis, Li Catherina H Z, van Schooneveld Mary J, Joniau Inge, De Baere Elfride, Florijn Ralph J, Bergen Arthur A, Hoyng Carel B, Michaelides Michel, Leroy Bart P, Boon Camiel J F

Abstract excerpt

This study investigated the phenotypic spectrum of PHARC (polyneuropathy, hearing loss, ataxia, retinitis pigmentosa and early-onset cataract) syndrome caused by biallelic variants in the ABHD12 gene. A total of 15 patients from 12 different families were included, with a mean age of 36.7 years (standard deviation [SD] ± 11.0; range from 17.5 to 53.9) at the most recent examination. The presence and onset of...

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Identifiers

PMID: 34573385
DOI: 10.3390/genes12091404
PMCID: PMC8467809

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