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Related Experiment Videos

Fenestrated sheen macular dystrophy.

S R Sneed1, P A Sieving

  • 1Department of Ophthalmology, University of Michigan, Ann Arbor.

American Journal of Ophthalmology
|July 15, 1991
PubMed
Summary
This summary is machine-generated.

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Fenestrated sheen macular dystrophy presents with distinct macular lesions and retinal pigment epithelial changes. Despite visual impairment, central visual acuity can remain normal in affected individuals.

Area of Science:

  • Ophthalmology
  • Medical Genetics
  • Retinal Diseases

Background:

  • Fenestrated sheen macular dystrophy (FSMD) is a rare inherited retinal disorder.
  • Understanding the phenotypic variability and genetic basis of FSMD is crucial for diagnosis and management.

Observation:

  • A family exhibiting FSMD presented with varying degrees of macular lesions, including red macular spots and retinal pigment epithelial disruption.
  • The propositus showed striking macular changes, while affected relatives displayed more subtle signs.
  • The father of the propositus had significant retinal pigment epithelial mottling and markedly reduced electroretinogram responses.

Findings:

  • Reduced electroretinogram amplitudes in an affected family member indicated peripheral retinal dysfunction alongside macular abnormalities.

Related Experiment Videos

  • Peripheral retinal pigment epithelial granularity was observed in affected family members.
  • Despite macular pathology, central visual acuity was preserved in all affected individuals.

    • Implications:

    • This case highlights the phenotypic spectrum of FSMD, emphasizing the importance of comprehensive retinal examination.
    • The findings suggest a potential link between macular changes and broader retinal dysfunction in FSMD.
    • Further research into FSMD genetics and pathophysiology is warranted to improve patient outcomes.