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Macular pattern dystrophy in MIDD: long-term follow-up.

C Ambonville1, T Meas, A Lecleire-Collet

  • 1Department of Internal Medicine B, hôpital Lariboisière, 2, rue Ambroise-Paré, AP-HP, université Paris-7 Denis-Diderot, 75010 Paris, France.

Diabetes & Metabolism
|July 1, 2008
PubMed
Summary

Maternally inherited diabetes and deafness (MIDD)-associated macular pattern dystrophy can present with stable visual acuity over 15 years, despite progressive chorioretinal atrophy. This case highlights long-term visual stability in MIDD patients.

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Area of Science:

  • Ophthalmology
  • Genetics
  • Endocrinology

Background:

  • Maternally inherited diabetes and deafness (MIDD) is a mitochondrial disorder.
  • MIDD is associated with specific mutations in mitochondrial DNA, often affecting tRNA genes.
  • Macular pattern dystrophy is a known ocular manifestation of MIDD.

Observation:

  • A case study followed a patient with MIDD-associated macular pattern dystrophy for 15 years.
  • Initial examination at age 37 revealed normal visual acuity but existing chorioretinal atrophy.
  • At age 52, visual acuity remained largely stable, with only slight decrease in one eye, despite advanced atrophy.

Findings:

  • The patient exhibited progressive chorioretinal atrophy over the 15-year follow-up period.
  • Despite extensive macular lesions, visual acuity remained remarkably stable in the long term.

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  • No diabetic retinopathy was observed, differentiating the ocular findings from typical diabetic complications.

    • Implications:

    • This case suggests that significant macular lesions in MIDD may not always correlate with rapid visual decline.
    • Long-term visual stability is possible even with advanced chorioretinal atrophy in MIDD.
    • Understanding the natural history of MIDD-associated retinopathy is crucial for patient management and prognosis.