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Updated: Apr 23, 2026

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Dominant cystoid macular dystrophy.

Nicole T M Saksens1, Ramon A C van Huet1, Janneke J C van Lith-Verhoeven2

  • 1Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands.

Ophthalmology
|October 1, 2014
PubMed
Summary
This summary is machine-generated.

Dominant cystoid macular dystrophy (DCMD) is a progressive retinal disorder beginning in childhood with fluid collections. Long-term follow-up reveals distinct stages of DCMD characterized by chorioretinal atrophy and pigment deposits.

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Area of Science:

  • Ophthalmology
  • Genetics
  • Retinal Dystrophies

Background:

  • Autosomal dominant cystoid macular dystrophy (DCMD) is a rare inherited retinal disorder.
  • Understanding its clinical progression and genetic basis is crucial for patient management.

Purpose of the Study:

  • To characterize the clinical features and long-term outcomes of patients with DCMD.
  • To establish a staging system for DCMD based on clinical and imaging findings.
  • To identify the genetic locus associated with DCMD.

Main Methods:

  • Retrospective case series of 97 patients with DCMD.
  • Comprehensive ophthalmic examinations including visual acuity, fundus photography, angiography (FA, FAF), OCT, and electrophysiology (ERG, EOG).
  • Haplotype analysis of DNA samples to identify the disease locus.

Main Results:

  • Early-onset cystoid fluid collections (CFCs) characterize DCMD, evolving into progressive chorioretinal atrophy and pigment deposits.
  • A 3-stage classification system for DCMD was developed, correlating with age and visual acuity.
  • The disease locus was mapped to 7p15.3, with most patients being hyperopic.

Conclusions:

  • DCMD is a distinct progressive retinal dystrophy defined by early CFCs.
  • The 3-stage classification provides a framework for understanding DCMD progression.
  • The genetic locus is identified, but the causative gene remains unknown.