PDE6A

Disease Category: autosomal recessive

Patient Population: unknown

Clinical Trials: active, recruiting

Check clinicaltrials.gov for updates

Treatment Options:

Strategies to Preserve Eye Health:

Institution(s) Conducting Research:

FACES OF RP

TBD
tbd

BRIEF DESCRIPTION

PDE6A-associated RP is a rare inherited retinal degeneration that causes vision loss, including night blindness and visual field defects. It's caused by mutations in the PDE6A gene, which encodes the alpha subunit of the cyclic guanosine monophosphate phosphodiesterase. RP is one of the most common forms of inherited retinal degeneration, affecting about 1 in 4,000 people.

At this time, there's no cure for RP, but there are treatments that can help with symptoms. These include low vision aids,
rehabilitation programs , vitamins and supplements. Clinical trials are underway for gene therapy. The trial involves injecting a vector under the retina.

IN THE NEWS

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 . . .

Dec 15, 2022

Novel variants in PDE6A and PDE6B genes and its phenotypes in patients with retinitis pigmentosa in Chinese families

Purpose: identify novel variants in PDE6A and PDE6B genes and present its phenotypes in patients with RP in Chinese families.

Jan 15, 2022

Genetic and Clinical Findings in an Ethnically Diverse Cohort with Retinitis Pigmentosa Associated with Pathogenic Variants in CERKL

CERKL mutations are an uncommon cause of arRP, but they are a significant cause of disease in populations with founder mutations

Dec 12, 2020

Longitudinal Clinical Follow-up and Genetic Spectrum of Patients with Rod-Cone Dystrophy associated

Compares genotype, phenotype, and structural changes in patients with rod-cone dystrophy (RCD) associated with mutations in PDE6A or PDE6B

Apr 18, 2018

Therapeutic Margins in a Novel Preclinical Model of Retinitis Pigmentosa

The third-most common cause of autosomal recessive retinitis pigmentosa (RP) is due to defective cGMP phosphodiesterase-6 (PDE6).

Aug 14, 2013

A Missense Mutation in DHDDS, Encoding Dehydrodolichyl Diphosphate Synthase, Is Associated with Autosomal-Recessive Retinitis Pigmentosa in Ashkenazi Jews

Using homozygosity mapping in Ashkenazi Jewish (AJ) patients with arRP, we identified a shared 1.7 Mb homozygous region on chromosome 1p36.1

Feb 11, 2011

A Homozygous PDE6B Mutation in a Family with Autosomal Recessive Retinitis Pigmentosa

We studied 24 families with inherited retinal degenerations for mutations in the genes PDE6B, MYL5, PDE6C, CNCG, RHO, ROM1, RDS-peripherin.

Jan 1, 1996

A Homozygous PDE6B Mutation in a Family with Autosomal Recessive Retinitis Pigmentosa

With a similar approach, homozygous mutations also have been found in PDE6B in the affecteds of two other ARRP families.

Jan 1, 1996

PDE6A

FACES OF RP

TBD tbd

BRIEF DESCRIPTION

IN THE NEWS

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

Novel variants in PDE6A and PDE6B genes and its phenotypes in patients with retinitis pigmentosa in Chinese families

Genetic and Clinical Findings in an Ethnically Diverse Cohort with Retinitis Pigmentosa Associated with Pathogenic Variants in CERKL

Longitudinal Clinical Follow-up and Genetic Spectrum of Patients with Rod-Cone Dystrophy associated

Therapeutic Margins in a Novel Preclinical Model of Retinitis Pigmentosa

A Missense Mutation in DHDDS, Encoding Dehydrodolichyl Diphosphate Synthase, Is Associated with Autosomal-Recessive Retinitis Pigmentosa in Ashkenazi Jews

A Homozygous PDE6B Mutation in a Family with Autosomal Recessive Retinitis Pigmentosa

A Homozygous PDE6B Mutation in a Family with Autosomal Recessive Retinitis Pigmentosa

TBD
tbd