Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract

Definition:

Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract (PHARC) is a progressive, autosomal-recessive, neurodegenerative disease marked by early-onset cataract and hearing loss, retinitis pigmentosa, and involvement of both the central and peripheral nervous systems, including demyelinating sensorimotor polyneuropathy and cerebellar ataxia. Mutations in the ABHD12 gene cause PHARC disease.

References:

[1]. Torunn Fiskerstrand, et al. Mutations in ABHD12 cause the neurodegenerative disease PHARC: An inborn error of endocannabinoid metabolism. Am J Hum Genet. 2010 Sep 10;87(3):410-7. [Content Brief]

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