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Product

Retinal Degeneration Associated with the G1606A Mitochondrial Mutation

Center:

AR-Partners for Inclusive Communities, UCEDD/LEND

Fiscal Year:

2022

Contact Information:

Renee Holmes
[email protected]
479-871-2836

Product Description:

The guanine-to-adenine substitution at nucleotide 1606 (G1606A) mutation in the mitochondrial DNA transfer RNA-valine gene has been reported to cause sensorineural deafness, ataxia, myoclonus, seizures, and mental retardation. This study hereby presents a single case report of a new retinal phenotype associated with this mutation: a middle-aged woman with retinal pigment epithelium stippling, atrophy, and peripapillary (retinal pigment epithelium) dropout on fundus examination.

Keyword(s):

Product/Publication Type(s):

Peer-reviewed publications in scholarly journals Published/In Press

Target Audience:

Professionals

Alternative Format:

Electronic (disc, CD, 508 compliant web posting)

To Obtain Copies (URL or Email):

https://pubmed.ncbi.nlm.nih.gov/35148219/

COVID-19 Related Data:

N/A

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