title: Persistent pupillary membrane, strabismus, and optic nerve hypoplasia in Donnai-Barrow syndrome.
abstract: We report a case of Donnai-Barrow syndrome in a 2-year-old boy who presented with exotropia and prominent eyes since birth. Ocular findings included high myopia, persistent pupillary membrane, and optic nerve hypoplasia. Facial manifestations included broad nasal bridge, hypertelorism, and downward-slanting of palpebral fissures. The patient had associated omphalocele, sensorineural hearing loss, and developmental delay. Magnetic resonance imaging revealed agenesis of the corpus callosum. To our knowledge, this is the first reported association of persistent pupillary membrane, strabismus, and optic nerve hypoplasia in a patient with Donnai-Barrow syndrome.
authors.affiliation: LV Prasad Eye Institute, Hyderabad, India.
authors.forename: Supriya
authors.initials: S
authors.lastname: Chinta
authors.forename: Amit
authors.initials: A
authors.lastname: Gupta
authors.forename: Virender
authors.initials: V
authors.lastname: Sachdeva
authors.forename: Ramesh
authors.initials: R
authors.lastname: Kekunnaya
mesh_terms: D061085:Agenesis of Corpus Callosum / Q000150:complications*; D002675:Child, Preschool; D005099:Exotropia / Q000175:diagnosis*; D006319:Hearing Loss, Sensorineural / Q000150:complications*; D065630:Hernias, Diaphragmatic, Congenital; D006801:Humans; D008297:Male; D009216:Myopia / Q000150:complications*; D009900:Optic Nerve / Q000002:abnormalities*; D011507:Proteinuria / Q000150:complications*; D011681:Pupil Disorders / Q000175:diagnosis*; D015499:Renal Tubular Transport, Inborn Errors