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The Phenotypic Spectrum of Patients with PHARC Syndrome Due to Variants in ABHD12: An Ophthalmic Perspective
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 (sta...
Autores principales: | , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8467809/ https://www.ncbi.nlm.nih.gov/pubmed/34573385 http://dx.doi.org/10.3390/genes12091404 |
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author | 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. |
author_facet | 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. |
author_sort | Nguyen, Xuan-Thanh-An |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-8467809 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-84678092021-09-27 The Phenotypic Spectrum of Patients with PHARC Syndrome Due to Variants in ABHD12: An Ophthalmic Perspective 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. Genes (Basel) Article 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. MDPI 2021-09-11 /pmc/articles/PMC8467809/ /pubmed/34573385 http://dx.doi.org/10.3390/genes12091404 Text en © 2021 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Article 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. The Phenotypic Spectrum of Patients with PHARC Syndrome Due to Variants in ABHD12: An Ophthalmic Perspective |
title | The Phenotypic Spectrum of Patients with PHARC Syndrome Due to Variants in ABHD12: An Ophthalmic Perspective |
title_full | The Phenotypic Spectrum of Patients with PHARC Syndrome Due to Variants in ABHD12: An Ophthalmic Perspective |
title_fullStr | The Phenotypic Spectrum of Patients with PHARC Syndrome Due to Variants in ABHD12: An Ophthalmic Perspective |
title_full_unstemmed | The Phenotypic Spectrum of Patients with PHARC Syndrome Due to Variants in ABHD12: An Ophthalmic Perspective |
title_short | The Phenotypic Spectrum of Patients with PHARC Syndrome Due to Variants in ABHD12: An Ophthalmic Perspective |
title_sort | phenotypic spectrum of patients with pharc syndrome due to variants in abhd12: an ophthalmic perspective |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8467809/ https://www.ncbi.nlm.nih.gov/pubmed/34573385 http://dx.doi.org/10.3390/genes12091404 |
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