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Article

PHARC syndrome which an ultra-rare syndrome with retinitis pigmentosa and cataracts: case report and review of the literature.

Ophthalmic genetics - 1 Apr 2024

Demir Senol, Sevik Mehmet Orkun, Ersoy Aysenur, Geckinli Bilgen Bilge, Sahin Ozlem, Arslan Ates Esra

Abstract excerpt

BACKGROUND: PHARC syndrome (MIM:612674) is a rare neurodegenerative disorder characterized by demyelinating polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataracts (PHARC). The syndrome is caused by mutations in the ABHD12 gene, which encodes αβ-hydrolase domain-containing protein 12 related to endocannabinoid metabolism. PHARC syndrome is one of the rare diseases; so far, only 51 patients have...

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Source

Identifiers

PMID: 38186350
DOI: 10.1080/13816810.2023.2289449

Genes

ABHD12

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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PHARC syndrome which an ultra-rare syndrome with retinitis pigmentosa and cataracts: case report and review of the literature.PMID 38186350Read ↗

PHARC syndrome: an overview.Semantic proximity Read ↗

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The Phenotypic Spectrum of Patients with PHARC Syndrome Due to Variants in ABHD12: An Ophthalmic Perspective.Semantic proximity Read ↗

A complex homozygous mutation in ABHD12 responsible for PHARC syndrome discovered with NGS and review of the literature.Semantic proximity Read ↗

Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene.Semantic proximity Read ↗

Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degeneration.Semantic proximity Read ↗

Mutations in ABHD12 cause the neurodegenerative disease PHARC: An inborn error of endocannabinoid metabolism.Semantic proximity Read ↗

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