1. The Phenotypic Spectrum of Patients with PHARC Syndrome Due to Variants in ABHD12 : An Ophthalmic Perspective.
- Author
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Nguyen XT, Almushattat H, Strubbe I, Georgiou M, Li CHZ, van Schooneveld MJ, Joniau I, De Baere E, Florijn RJ, Bergen AA, Hoyng CB, Michaelides M, Leroy BP, and Boon CJF
- Subjects
- Adolescent, Adult, Belgium, Cohort Studies, Eye pathology, Female, Humans, Male, Middle Aged, Netherlands, Phenotype, Pseudophakia genetics, Pseudophakia pathology, Pseudophakia physiopathology, Retrospective Studies, United Kingdom, Visual Acuity physiology, Young Adult, Ataxia genetics, Ataxia pathology, Ataxia physiopathology, Cataract genetics, Cataract pathology, Cataract physiopathology, Eye physiopathology, Monoacylglycerol Lipases genetics, Polyneuropathies genetics, Polyneuropathies pathology, Polyneuropathies physiopathology, Retinitis Pigmentosa genetics, Retinitis Pigmentosa pathology, Retinitis Pigmentosa physiopathology
- Abstract
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 neurological, audiological and ophthalmic symptoms were variable, with no evident order of symptom appearance. The mean best-corrected visual acuity was 1.1 logMAR (SD ± 0.9; range from 0.1 to 2.8; equivalent to 20/250 Snellen) and showed a trend of progressive decline. Different types of cataract were observed in 13 out of 15 patients (87%), which also included congenital forms of cataract. Fundus examination revealed macular involvement in all patients, ranging from alterations of the retinal pigment epithelium to macular atrophy. Intraretinal spicular hyperpigmentation was observed in 7 out of 15 patients (47%). From an ophthalmic perspective, clinical manifestations in patients with PHARC demonstrate variability with regard to their onset and severity. Given the variable nature of PHARC, an early multidisciplinary assessment is recommended to assess disease severity.
- Published
- 2021
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