photoreceptor dysfunction

Retinitis Pigmentosa 78

Clinical Characteristics
Ocular Features: 

Onset of visual complaints is in the third or fourth decades with night blindness and visual field defects.  These symptoms are progressive with the oldest of three reported patients having 20/1250 vision at 51 years of age.  Classic signs of retinitis pigmentosa are usually present including disc pallor, pigment clumping, peripheral field constriction, and attenuated retinal vessels.  Intraretinal cysts may be detected with optical coherence tomography.  The full-field ERG shows general photoreceptor dysfunction with the rods most severely involved while pattern ERGs shows variable macular involvement.

Systemic Features: 

No systemic disease has been detected in the three reported individuals.

Genetics

Three unrelated individuals have been reported with homozygous or compound heterozygous mutations in the ARHGEF18 gene (19p13.2).   Five different mutant alleles were found among these patients.

Pedigree: 
Autosomal recessive
Treatment
Treatment Options: 

No treatment has been reported but low vision aids might be helpful.

References
Article Title: 

Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration

Arno G, Carss KJ, Hull S, Zihni C, Robson AG, Fiorentino A; UK Inherited Retinal Disease Consortium., Hardcastle AJ, Holder GE, Cheetham ME, Plagnol V; NIHR Bioresource - Rare Diseases Consortium., Moore AT, Raymond FL, Matter K, Balda MS, Webster AR. Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration. Am J Hum Genet. 2017 Feb 2;100(2):334-342.

PubMed ID: 
28132693
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