Left-sided Duane's syndrome and retinal coloboma associated with contralateral microphthalmia.
Case report of a 15-year-old girl presenting with a left-sided Duane's retraction syndrome (DURS) in combination with ipsilateral retinal coloboma and contralateral microphthalmia. Abduction limitation as well as narrowing of the palpebral fissure and globe retraction during attempted adduction (type I DURS) was demonstrated in the left eye. Additionally, a retinal coloboma was observed in the nasal inferior quadrant of the left eye. No other somatic or developmental abnormalities were observed and karyotypic analysis was normal. This is the first case of non-syndromic unilateral DURS associated with a contralateral major ocular malformation. This unusual clinical combination probably arose from the embryonic action of an eye-specific disruptor.
Garnica-Hayashi
Rosa E
RE
Department of Strabismus, Instituto de Oftalmología, Fundación Conde de Valenciana, Mexico City, Mexico.
Vargas-Ortega
Jessica
J
Zenteno
Juan Carlos
JC
D000015:Abnormalities, Multiple; D000293:Adolescent; D003103:Coloboma / Q000150:complications*; D004370:Duane Retraction Syndrome / Q000150:complications* / Q000503:physiopathology; D005260:Female; D006801:Humans; D008850:Microphthalmos / Q000150:complications* / Q000473:pathology; D012160:Retina / Q000002:abnormalities*