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Related Experiment Videos

Rhodopsin C110Y mutation causes a type 2 autosomal dominant retinitis pigmentosa

E Millá1, E Héon, P A Grounauer

  • 1Hôpital Ophtalmique Jules Gonin, Lausanne, Switzerland.

Ophthalmic Genetics
|November 12, 1998
PubMed
Summary

The RHO C110Y mutation causes a mild, late-onset form of autosomal dominant retinitis pigmentosa (adRP) with slow progression and minimal visual field loss. Genotype-phenotype correlation aids in genetic and prognostic counseling for this condition.

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Area of Science:

  • Ophthalmology
  • Genetics
  • Retinal Diseases

Background:

  • Autosomal dominant retinitis pigmentosa (adRP) is a group of inherited retinal disorders.
  • The RHO C110Y mutation has been linked to adRP, but its phenotypic presentation is not well-defined.

Purpose of the Study:

  • To describe the genotype/phenotype correlation of the RHO C110Y mutation in a family with adRP.
  • To characterize the clinical presentation and progression of RHO C110Y-associated adRP.

Main Methods:

  • Ophthalmological investigation of a six-generation pedigree with RHO C110Y mutation.
  • Complete eye examinations and electroretinography (ERG) testing in affected individuals.

Main Results:

  • Disease onset in adulthood with nyctalopia, progressing to tubular visual field defects and preserved central vision.

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  • Minimal fundus changes until the third decade, followed by slow progression to typical RP signs with limited macular involvement.
  • ERG alterations initially affected rods, then rods and cones, with scotopic and photopic ERGs recordable into the fourth and sixth decades, respectively.

    • Conclusions:

    • RHO C110Y-associated adRP presents with late onset, mild progression, and low intrafamilial variability.
    • This form of adRP is compatible with type 2 or regional RP and shows complete penetrance.
    • Understanding genotype-phenotype correlations is crucial for genetic and prognostic counseling in adRP.