Mutations in KCNJ13 cause autosomal-dominant snowflake vitreoretinal degeneration

Article Abstract:

A developmental and progressive hereditary eye disorder that affects multiple tissues within the eye known as snowflake vitreoretinal degeneration (SVD) is studied. It is indicated that the KCNJ13 R162W mutation can cause SVD and vitreoretinal degeneration can arise through mutations in genes whose products are not structural components of the vitreous.

Causes of, Genetic aspects, Macular degeneration, Vitreous body

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Mutations in PRPS1, which encodes the phosphoribosyl pyrophosphate synthetase enzyme critical for nucleotide biosynthesis, cause hereditary peripheral neuropathy with hearing loss and optic neuropathy (CMTX5)

Article Abstract:

The article highlights that missense mutations in the gene cause a syndromic form of peripheral neuropathy associated with sensorineural hearing loss and optic neuropathy with the help of the cochlear expression database.

Pyrophosphates, Polyneuropathies

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