@article{d831673086c24680af58a67d11f59607,
title = "The phenotypic spectrum of patients with pharc syndrome due to variants in abhd12: An ophthalmic perspective",
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.",
keywords = "ABHD12, Ataxia, Cataract, Hearing loss, PHARC syndrome, Polyneuropathy, Retinitis pigmentosa",
author = "Xuan-Thanh-An Nguyen and Hind Almushattat and Ine Strubbe and Michalis Georgiou and Li, {Catherina H. Z.} and {van Schooneveld}, {Mary J.} and Inge Joniau and {de Baere}, Elfride and Florijn, {Ralph J.} and Bergen, {Arthur A.} and Hoyng, {Carel B.} and Michel Michaelides and Leroy, {Bart P.} and Boon, {Camiel J. F.}",
note = "Funding Information: Funding: This study is supported by Ghent University Special Research Fund (BOF20/GOA/023) to E.D.B. and B.P.L., Ghent University Hospital Innovation Fund NucleUZ. Funding Information: Acknowledgments: This study was performed as part of a collaboration within the European Reference Network for Rare Eye Diseases (ERN-EYE). ERN-EYE is cofunded by the Health Program of the European Union under the Framework Partnership Agreement #739543—“ERN-EYE” and cofunded by the H{\^o}pitaux Universitaires de Strasbourg. C.F.J.B., C.B.H., E.D.B. and B.P.L. are members of ERN-EYE. This study is supported by Ghent University Special Research Fund (BOF20/GOA/023) to E.D.B. and B.P.L., Ghent University Hospital Innovation Fund NucleUZ to E.D.B.; B.P.L. and E.D.B. are senior clinical investigators of the Research Foundation-Flanders (FWO) (1803821N to B.P.L. and 1802220N to E.D.B.). The authors would like to thank Andrea Heredero Berzal (Amsterdam UMC, The Netherlands) for her assistance with interpreting gene expression panels. Publisher Copyright: {\textcopyright} 2021 by the authors.",
year = "2021",
month = sep,
day = "1",
doi = "https://doi.org/10.3390/genes12091404",
language = "English",
volume = "12",
journal = "Genes",
issn = "2073-4425",
publisher = "Multidisciplinary Digital Publishing Institute (MDPI)",
number = "9",
}