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Microcephaly with chorioretinal degeneration

L O Atchaneeyasakul1, L Linck, R G Weleber

  • 1Department of Ophthalmology, Oregon Health Sciences University, Portland, USA.

Ophthalmic Genetics
|May 20, 1998
PubMed
Summary
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Value of electrodiagnostic assessment in nonsyndromic microcephaly.

European journal of ophthalmology·2003

Ocular abnormalities, particularly retinal degeneration, are common in patients with microcephaly. Electroretinograms (ERG) showed subnormal rod and cone responses in these individuals.

Area of Science:

  • Ophthalmology
  • Medical Genetics
  • Neurology

Background:

  • Microcephaly is a condition characterized by an abnormally small head circumference.
  • Chorioretinal degeneration involves progressive damage to the choroid and retina.
  • The association between microcephaly and ocular abnormalities requires further investigation.

Purpose of the Study:

  • To detail the ophthalmologic findings in patients with microcephaly.
  • To analyze electroretinogram (ERG) results in individuals with microcephaly and chorioretinal degeneration.

Main Methods:

  • Retrospective review of hospital records for 20 patients with microcephaly.
  • Diagnosis of microcephaly with chorioretinopathy in 12 patients.
  • Performance of ISCEV-standard electroretinograms (ERG) in 10 patients.

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Main Results:

  • No family history of microcephaly or retinal degeneration in most patients.
  • Fundus findings included retinitis pigmentosa, bull's eye maculopathy, and retinal atrophy.
  • Electroretinograms (ERG) revealed moderate to severe subnormal rod and cone responses.
  • Brain imaging showed cerebellar and cortical atrophy in some patients.

Conclusions:

  • Ocular abnormalities, especially retinal degeneration, are frequently observed in microcephaly patients.
  • The reviewed patients represent a heterogeneous group of disorders.
  • Early ophthalmologic evaluation is crucial for individuals with microcephaly.