title: Agenesis of retinal vessels in a newborn with central nervous system developmental abnormality.
abstract: 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.
authors.affiliation: Department of Ophthalmology, Ministry of Health, Dr. Sami Ulus Maternity and Children Research and Training Hospital, Cukurambar mah 42.cd 1465.sk 2/33 Balgat, 06080, Ankara, Turkey. drpinar@yahoo.com.
authors.forename: Pinar Altiaylik
authors.initials: PA
authors.lastname: Ozer
authors.affiliation: Department of Ophthalmology, Ministry of Health, Dr. Sami Ulus Maternity and Children Research and Training Hospital, Cukurambar mah 42.cd 1465.sk 2/33 Balgat, 06080, Ankara, Turkey.
authors.forename: Emrah Utku
authors.initials: EU
authors.lastname: Kabatas
authors.affiliation: Department of Ophthalmology, Ministry of Health, Dr. Sami Ulus Maternity and Children Research and Training Hospital, Cukurambar mah 42.cd 1465.sk 2/33 Balgat, 06080, Ankara, Turkey.
authors.forename: Bengi Ece
authors.initials: BE
authors.lastname: Kurtul
authors.affiliation: Department of Pediatric Metabolism, Ministry of Health, Dr. Sami Ulus Maternity and Children Research and Training Hospital, 06080, Ankara, Turkey.
authors.forename: Cigdem Seher
authors.initials: CS
authors.lastname: Kasapkara
mesh_terms: D061085:Agenesis of Corpus Callosum / Q000150:complications*; D002386:Cataract / Q000209:etiology; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D012160:Retina / Q000002:abnormalities*; D012171:Retinal Vessels / Q000002:abnormalities*
keywords: Central nervous system; Developmental abnormality; Retinal vascular agenesis