Agenesis of retinal vessels in a newborn with central nervous system developmental abnormality

Ozer P. A., Kabatas E. U., Kurtul B. E., Kasapkara C. S.

International Ophthalmology, cilt.37, sa.1, ss.259-261, 2017 (SCI-Expanded) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 37 Sayı: 1
  • Basım Tarihi: 2017
  • Doi Numarası: 10.1007/s10792-016-0224-5
  • Dergi Adı: International Ophthalmology
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.259-261
  • Anahtar Kelimeler: Central nervous system, Developmental abnormality, Retinal vascular agenesis
  • Hatay Mustafa Kemal Üniversitesi Adresli: Hayır

Özet

A full-term infant with neonatal seizures was diagnosed to have corpus callosum agenesis with congenital agyria. His indirect ophthalmoscopical evaluation revealed bilateral complete absence of retinal vessels with normal optic discs and macula. Bilateral lamellar cataracts developed in the second month of follow-up, and his muscle biopsy was consistent with a mitochondrial disorder. Confirmation by molecular analysis could not be performed since parents did not give their consent for further investigation.