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Septo-optic dysplasia associated with bilateral complex microphthalmos

K Gündüz1, I Günalp, I Saatçi

  • 1Keçiören Numune State Hospital, Ophthalmology Service, Faculty of Medicine, University of Ankara, Turkey.

Ophthalmic Genetics
|September 1, 1996
PubMed
Summary

This study details a rare case of septo-optic dysplasia in an infant, presenting with complex microphthalmos and other significant ocular and brain abnormalities. The findings highlight the intricate relationship between these developmental conditions.

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Area of Science:

  • Ophthalmology
  • Neurology
  • Pediatrics

Background:

  • Septo-optic dysplasia (SOD) is a congenital disorder characterized by abnormalities of the optic nerves, pituitary gland, and midline brain structures.
  • Microphthalmos is a condition where one or both eyes are abnormally small.

Observation:

  • An 8-month-old girl presented with corneal clouding and bilateral microphthalmos, preventing funduscopic examination.
  • Imaging revealed bilateral microphthalmos, presumed retinal dysplasia, optic nerve and chiasm hypoplasia, agenesis of the septum pellucidum, and corpus callosum thinning.
  • Additional ocular findings included anterior segment dysgenesis in the right eye and a congenital cataract or lens abnormality in the left eye.

Findings:

  • The patient exhibited a rare combination of septo-optic dysplasia with complex microphthalmos.

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  • Despite significant ocular and brain malformations, endocrine studies showed normal serum hormone levels.
  • Absence of colobomatous lesions and systemic anomalies ruled out a coloboma syndrome.

    • Implications:

    • This case underscores the phenotypic variability of septo-optic dysplasia and its association with severe ocular malformations.
    • Highlights the importance of comprehensive neuroimaging and ophthalmological evaluation in infants with suspected developmental brain abnormalities.
    • Contributes to understanding the spectrum of congenital anomalies involving midline brain and optic nerve development.