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Genetic and phenotypic heterogeneity in pattern dystrophy.

P J Francis1, D W Schultz, A M Gregory

  • 1Macular Degeneration Center, Casey Eye Institute, Oregon Health and Science University, 3375 SW Terwilliger Blvd, Portland, OR 97239-4197, USA.

The British Journal of Ophthalmology
|August 23, 2005
PubMed
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Pattern dystrophies (PD) are inherited macular diseases often caused by peripherin/RDS gene mutations. Many patients experience vision loss, particularly in later years, and may be misdiagnosed with age-related macular degeneration.

Area of Science:

  • Ophthalmology
  • Genetics
  • Retinal Diseases

Background:

  • Pattern dystrophies (PD) are a heterogeneous group of inherited macular diseases.
  • Mutations in the peripherin/RDS gene are a common cause of PD.
  • Previous studies lacked generalized data on PD progression and visual outcomes.

Purpose of the Study:

  • To investigate the clinical characteristics and progression of pattern dystrophies.
  • To identify mutations in the peripherin/RDS gene in families with PD.
  • To provide generalized data on visual outcomes in PD patients.

Main Methods:

  • Families with pattern dystrophies were identified and clinically evaluated.
  • Genetic analysis was performed to identify mutations in the peripherin/RDS gene.

Related Experiment Videos

  • Angiography and electrophysiology were utilized where appropriate.

    • Main Results:

    • Mutations in the peripherin/RDS gene were found in all six families studied, including a novel Cys250Phe variant.
    • PD is characterized by subretinal flecks, pigmentary changes, and chorioretinal atrophy.
    • 50% of individuals with PD developed vision loss due to geographic atrophy or neovascularization, increasing with age.

    Conclusions:

    • Pattern dystrophies are not benign and carry a significant risk of central vision loss.
    • Patients with PD should be counseled about potential vision loss in later life.
    • Advanced PD can be misdiagnosed as age-related macular degeneration due to similar phenotypes.