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[Pattern dystrophies and intrafamilial phenotypic variation]

O R Bernasconi1, B Piguet

  • 1Service Universitaire d'Ophtalmologie, Hôpital Ophtalmique Jules Gonin.

Klinische Monatsblatter Fur Augenheilkunde
|May 1, 1996
PubMed
Summary

Pattern dystrophies, inherited in an autosomal dominant manner, can present with variable expressions. Coexistence of different forms within families suggests a shared genetic basis, expanding the known disease spectrum.

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Area of Science:

  • Ophthalmology
  • Medical Genetics

Background:

  • Pattern dystrophies are inherited retinal diseases affecting the retinal pigment epithelium and external macular retina.
  • Typically classified into four distinct entities, these dystrophies can exhibit progression and coexistence of forms within individuals and families.

Observation:

  • Two families with four cases presented with coexisting butterfly dystrophy and vitelliform dystrophy or central atrophy.
  • A case of vitelliform dystrophy with multiple lesions, atypical for the usual single centromacular lesion, was observed.
  • The potential association of these pattern dystrophies with a neovascular membrane was also noted.

Findings:

  • The co-occurrence of diverse pattern dystrophy forms within a single family indicates variable expression of a common genetic disorder.
  • The identification of centromacular atrophy in a patient expands the recognized clinical spectrum beyond the four classic pattern dystrophy entities.

Implications:

  • These findings suggest that pattern dystrophies may represent a broader spectrum of a single genetic condition with pleiotropic effects.
  • Understanding this variability is crucial for accurate diagnosis, genetic counseling, and potential therapeutic strategies for inherited retinal diseases.

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