Septo-optic dysplasia associated with bilateral complex microphthalmos

Gündüz K., Günalp I., Saatçi I.

OPHTHALMIC GENETICS, sa.3, ss.109-113, 1996 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Basım Tarihi: 1996
  • Doi Numarası: 10.3109/13816819609057113
  • Dergi Adı: OPHTHALMIC GENETICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED)
  • Sayfa Sayıları: ss.109-113
  • Anahtar Kelimeler: Complex microphthalmos, Computerized tomography, Magnetic resonance imaging, Optic nerve hypoplasia, Septo-optic dysplasia
  • Ankara Üniversitesi Adresli: Evet

Özet

An 8-month-old girl was examined because of corneal clouding and microphthalmos. The fundi of both eyes could not be visualized because of corneal clouding. Orbital and cranial computerized tomographic scanning and magnetic resonance imaging demonstrated bilateral microphthalmos and presumed retinal dysplasia, hypoplasia of the optic nerves and chiasm, agenesis of the septum pellucidum, thinning of corpus callosum, and a normal pituitary infundibulum. Cerebral cortex and white matter were unremarkable. Other ocular malformations were anterior segment dysgenesis in the right eye and congenital cataract or lens abnormality in the left eye. Endocrine studies revealed normal serum hormone levels. There were no colobomatous lesions and systemic anomalies suggestive of a coloboma syndrome. This case represents the rare association of septo-optic dysplasia with complex microphthalmos.