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Pattern dystrophy and retinitis pigmentosa caused by a peripherin/RDS mutation

S C Richards¹, D J Creel

¹Ophthalmology Associates, Ogden, Utah, USA.

Retina (Philadelphia, Pa.)

|January 1, 1995

Summary

A Pro216Ser mutation in the peripherin/RDS gene is linked to both autosomal dominant retinitis pigmentosa (RP) and pattern dystrophy in a family. This genetic finding provides insight into the molecular basis of these inherited retinal diseases.

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Area of Science:

Ophthalmology
Genetics
Molecular Biology

Background:

Autosomal dominant retinitis pigmentosa (RP) and pattern dystrophy are inherited retinal disorders.
These conditions can lead to progressive vision loss.
Genetic mutations are often implicated in the etiology of these diseases.

Observation:

A four-generation family presented with overlapping clinical features of RP and pattern dystrophy.
Ophthalmoscopic examination revealed pigment deposition, including an unusual ring-like configuration in one case.
Electrophysiologic testing and genetic screening were performed on affected and unaffected family members.

Findings:

All affected family members carried a Pro216Ser mutation in the peripherin/RDS gene.
This specific mutation was absent in unaffected family members and a control population.

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The Pro216Ser mutation on chromosome 6p was associated with both autosomal dominant RP and pattern dystrophy phenotypes within the family.

Implications:

The peripherin/RDS gene mutation is a key genetic factor in this family's retinal disorders.
Understanding this mutation's role can aid in genetic counseling and diagnosis.
Further research may elucidate the precise mechanism by which this mutation causes combined RP and pattern dystrophy.