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Retinal and optic nerve changes in microcephaly: An optical coherence tomography study.

Eleni Papageorgiou1, Anastasia Pilat1, Frank Proudlock1

  • 1From the Department of Ophthalmology (E.P., A.P., F.P., H.L., R.P., V.S., I.G.), Leicester Royal Infirmary, University of Leicester; and Department of Clinical Genetics (P.V.), University Hospitals of Leicester, Leicester Royal Infirmary, UK.

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Summary

Microcephaly is associated with significant retinal and optic nerve abnormalities, including reduced retinal thickness and structural changes. Optical coherence tomography (OCT) effectively detects these changes, aiding in diagnosis and quantification.

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Area of Science:

  • Ophthalmology
  • Neurology
  • Developmental Biology

Background:

  • Microcephaly is a congenital condition characterized by a smaller head circumference than normal.
  • Ocular abnormalities are frequently observed in individuals with microcephaly, but detailed morphological data are often lacking.

Purpose of the Study:

  • To investigate the detailed morphology of the retina and optic nerve (ON) in individuals with microcephaly using optical coherence tomography (OCT).
  • To compare retinal and ON measurements between microcephalic patients and healthy controls.

Main Methods:

  • A prospective case-control study involving 27 patients with microcephaly and 27 healthy controls.
  • Ophthalmologic examinations and handheld OCT of the macula and ON head were performed.
  • Quantification of individual retinal layer thickness, foveal pit morphology, and ON head parameters including cup-to-disc ratio and retinal nerve fiber layer thickness.

Main Results:

  • 85% of microcephaly patients exhibited OCT abnormalities, including ellipsoid zone disruption, persistent inner retinal layers, and irregular foveal pits.
  • Significantly reduced parafoveal retinal thickness (nasally and temporally) and total peripapillary retinal thickness were observed in microcephaly patients compared to controls.
  • Thinning of the ganglion cell layer and inner photoreceptor segments were noted in the microcephaly group.

Conclusions:

  • Retinal and ON anomalies in microcephaly likely result from reduced retinal cell proliferation and altered lamination due to impaired neurogenic mitosis.
  • OCT is a valuable tool for diagnosing and quantifying retinal and ON changes in microcephaly, even when ophthalmoscopic findings are subtle.