title: A Unique Case of Bilateral Microphthalmia That May Be Related to 14q32.33.
abstract: A 2-day-old Hispanic boy was transferred to us with concerns of a small left eye. The pregnancy was uncomplicated, and both parents are healthy. Examination showed a left orbit that appeared to be empty with conjunctival tissue. The right eye had a 7 mm clear cornea, and retinal exam showed areas of thin or absent tissue and no visible optic nerve. MRI revealed a hypoplastic left orbit with an orbital cyst. The anterior-posterior diameter of the right globe was 14 mm and the left globe was 4 mm. Genetic microanalysis showed genetic abnormalities (845 kb gain) on chromosome 14 at q32.33. A diagnosis of bilateral microphthalmia with an orbital cyst was made. This is an isolated case of bilateral microphthalmia possibly associated with 14q32-33.
authors.affiliation: Cook County Health and Hospitals Systems, Chicago, Illinois, U.S.A.
authors.forename: Douglas P
authors.initials: DP
authors.lastname: Dworak
authors.forename: Lisa S
authors.initials: LS
authors.lastname: Thompson
authors.forename: Shyam A
authors.initials: SA
authors.lastname: Patel
authors.forename: Susan C
authors.initials: SC
authors.lastname: Echiverri
authors.forename: Phillip B
authors.initials: PB
authors.lastname: Dray
mesh_terms: D002869:Chromosome Aberrations; D002883:Chromosomes, Human, Pair 14 / Q000235:genetics*; D003560:Cysts / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D008297:Male; D008850:Microphthalmos / Q000175:diagnosis / Q000235:genetics*; D009915:Orbit / Q000473:pathology*; D009916:Orbital Diseases / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics