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The Phenotypic Spectrum of Patients with PHARC Syndrome Due to Variants in
- Source :
- Genes
- Publication Year :
- 2021
-
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.
- Subjects :
- Adult
Male
ABHD12
genetic structures
Adolescent
Pseudophakia
Visual Acuity
Eye
Cataract
Article
Cohort Studies
Polyneuropathies
Young Adult
Belgium
retinitis pigmentosa
Humans
Netherlands
Retrospective Studies
hearing loss
PHARC syndrome
ataxia
Middle Aged
eye diseases
Monoacylglycerol Lipases
United Kingdom
Phenotype
Female
polyneuropathy
Subjects
Details
- ISSN :
- 20734425
- Volume :
- 12
- Issue :
- 9
- Database :
- OpenAIRE
- Journal :
- Genes
- Accession number :
- edsair.pmid..........91ee21bc09d9e427a8d455e4438d402c