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The phenotypic spectrum of patients with PHARC syndrome due to variants in ABHD12 : an ophthalmic perspective

Xuan-Thanh-An Nguyen, Hind Almushattat, Ine Strubbe, Michalis Georgiou, Catherina H. Z. Li, Mary J. van Schooneveld, Inge Joniau (UGent) , Elfride De Baere (UGent) , Ralph J. Florijn, Arthur A. Bergen, et al.
(2021) GENES. 12(9).
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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
PHARC syndrome, ABHD12, polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract, MUTATIONS

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MLA
Nguyen, Xuan-Thanh-An, et al. “The Phenotypic Spectrum of Patients with PHARC Syndrome Due to Variants in ABHD12 : An Ophthalmic Perspective.” GENES, vol. 12, no. 9, 2021, doi:10.3390/genes12091404.
APA
Nguyen, X.-T.-A., Almushattat, H., Strubbe, I., Georgiou, M., Li, C. H. Z., van Schooneveld, M. J., … Boon, C. J. F. (2021). The phenotypic spectrum of patients with PHARC syndrome due to variants in ABHD12 : an ophthalmic perspective. GENES, 12(9). https://doi.org/10.3390/genes12091404
Chicago author-date
Nguyen, Xuan-Thanh-An, Hind Almushattat, Ine Strubbe, Michalis Georgiou, Catherina H. Z. Li, Mary J. van Schooneveld, Inge Joniau, et al. 2021. “The Phenotypic Spectrum of Patients with PHARC Syndrome Due to Variants in ABHD12 : An Ophthalmic Perspective.” GENES 12 (9). https://doi.org/10.3390/genes12091404.
Chicago author-date (all authors)
Nguyen, Xuan-Thanh-An, Hind Almushattat, Ine Strubbe, Michalis Georgiou, Catherina H. Z. Li, Mary J. van Schooneveld, Inge Joniau, Elfride De Baere, Ralph J. Florijn, Arthur A. Bergen, Carel B. Hoyng, Michel Michaelides, Bart Leroy, and Camiel J. F. Boon. 2021. “The Phenotypic Spectrum of Patients with PHARC Syndrome Due to Variants in ABHD12 : An Ophthalmic Perspective.” GENES 12 (9). doi:10.3390/genes12091404.
Vancouver
1.
Nguyen X-T-A, Almushattat H, Strubbe I, Georgiou M, Li CHZ, van Schooneveld MJ, et al. The phenotypic spectrum of patients with PHARC syndrome due to variants in ABHD12 : an ophthalmic perspective. GENES. 2021;12(9).
IEEE
[1]
X.-T.-A. Nguyen et al., “The phenotypic spectrum of patients with PHARC syndrome due to variants in ABHD12 : an ophthalmic perspective,” GENES, vol. 12, no. 9, 2021.
@article{8720952,
  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.}},
  articleno    = {{1404}},
  author       = {{Nguyen, Xuan-Thanh-An and Almushattat, Hind and Strubbe, Ine and Georgiou, Michalis and Li, Catherina H. Z. and van Schooneveld, Mary J. and Joniau, Inge and De Baere, Elfride and Florijn, Ralph J. and Bergen, Arthur A. and Hoyng, Carel B. and Michaelides, Michel and Leroy, Bart and Boon, Camiel J. F.}},
  issn         = {{2073-4425}},
  journal      = {{GENES}},
  keywords     = {{PHARC syndrome,ABHD12,polyneuropathy,hearing loss,ataxia,retinitis pigmentosa,cataract,MUTATIONS}},
  language     = {{eng}},
  number       = {{9}},
  pages        = {{14}},
  title        = {{The phenotypic spectrum of patients with PHARC syndrome due to variants in ABHD12 : an ophthalmic perspective}},
  url          = {{http://doi.org/10.3390/genes12091404}},
  volume       = {{12}},
  year         = {{2021}},
}
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