CNGA1

BRIEF DESCRIPTION

CNGA1 retinitis pigmentosa (RP) is a progressive, inherited eye disease that affects the rod and cone cells of the retina. It's caused by mutations in the CNGA1 gene, which encodes the alpha subunit of the rod CNG channel. The rod CNG channel is a molecular switch that converts light into electrical signals.

Symptoms include loss of night vision, Loss of peripheral vision, Difficulty moving around in the dark, and difficulty adjusting to dim light. Many people with RP are legally blind by age 40 but the rate of progression varies from person to person.

There's no cure for RP, but medications can help treat complications. Gene therapy clinical trials are underway.

Disease Category: autosomal recessive

Patient Population:

Known Clinical Trials: one (1)

Check clinicaltrials.gov for updates

Treatment Options:

Strategies to Preserve Eye Health:

Institution(s) Conducting Research:

A FACE OF RP

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IN THE NEWS

Dec 15, 2022

Mutations within the cGMP-binding domain of CNGA1 causing autosomal recessive retinitis pigmentosa in human and animal model

This study supports a role for CNGA1 as a disease gene for arRP and provides new insights on the pathobiology of cGMP-binding domain . . .

Jun 30, 2018

ARL2BP, a protein linked to retinitis pigmentosa, is needed for normal photoreceptor cilia doublets and outer segment structure

The current study focused on the cilia-specific role for ARL2BP in photoreceptor cells.