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A Simple and Low-cost Assay for Measuring Ambulation in Mouse Models of Muscular Dystrophy
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Occult Macular Dystrophy.

Stephen H Tsang1,2, Tarun Sharma3

  • 1Jonas Children's Vision Care, Bernard & Shirlee Brown Glaucoma Laboratory, Columbia Stem Cell Initiative-Departments of Ophthalmology, Biomedical Engineering, Pathology & Cell Biology, Institute of Human Nutrition, Vagelos College of Physicians and Surgeons, Columbia University, New York, NY, USA.

Advances in Experimental Medicine and Biology
|December 23, 2018
PubMed
Summary
This summary is machine-generated.

Occult macular dystrophy (OMD) causes progressive central vision loss in middle-aged adults. Diagnosis relies on optical coherence tomography (OCT) showing ellipsoid band loss, despite normal fundus exams.

Keywords:
Autosomal dominantOccult macular dystrophy

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Area of Science:

  • Ophthalmology
  • Medical Imaging
  • Retinal Diseases

Background:

  • Occult macular dystrophy (OMD) presents with progressive central vision loss.
  • Patients often experience central scotoma.
  • Fundus examination and fluorescein angiography typically show no significant abnormalities.

Purpose of the Study:

  • To describe the clinical presentation and diagnostic findings of occult macular dystrophy.
  • To highlight the utility of optical coherence tomography (OCT) in diagnosing OMD.
  • To correlate electroretinography (ERG) findings with OMD.

Main Methods:

  • Review of patient cases with suspected OMD.
  • Optical coherence tomography (OCT) imaging of the macula.
  • Full-field electroretinography (ffERG) and multifocal electroretinography (mfERG) testing.

Main Results:

  • OCT revealed loss of the ellipsoid band in the central macula.
  • Full-field ERG was normal or showed reduced cone response.
  • Multifocal ERG demonstrated diminished central retinal amplitude.

Conclusions:

  • OMD is characterized by central vision loss with subtle funduscopic findings.
  • OCT is crucial for identifying the ellipsoid band disruption in OMD.
  • ERG may show specific patterns indicative of cone dysfunction in OMD.