Journal article
Microthalmia, Anophthalmia, and Coloboma and Associated Ocular and Systemic Features Understanding the Spectrum
Simon E Skalicky, Andrew JR White, John R Grigg, Frank Martin, Jeremy Smith, Michael Jones, Craig Donaldson, James EH Smith, Maree Flaherty, Robyn V Jamieson
JAMA OPHTHALMOLOGY | AMER MEDICAL ASSOC | Published : 2013
Abstract
IMPORTANCE: Microphthalmia, anophthalmia, and coloboma form an interrelated spectrum of congenital eye abnormalities. OBJECTIVE: To document the ocular and systemic findings and inheritance patterns in patients with microphthalmia, anophthalmia, and coloboma disease to gain insight into the underlying developmental etiologies. DESIGN, SETTING, AND PARTICIPANTS: This retrospective consecutive case series was conducted at a tertiary referral center. Included in the study were 141 patients with microphthalmia, anophthalmia, and coloboma disease without a recognized syndromic etiology who attended the Westmead Children's Hospital, Sydney, from 1981-2012. EXPOSURE: Cases were grouped on the basis..
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