Microphthalmia, anophthalmia, and coloboma and associated ocular and systemic features: Understanding the spectrum

Simon E. Skalicky, Andrew J R White, John R. Grigg, Frank Martin, Jeremy Smith, Michael Jones, Craig Donaldson, James E H Smith, Maree Flaherty, Robyn V. Jamieson*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

33 Citations (Scopus)


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 serieswas 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 theWestmead Children's Hospital, Sydney, from 1981-2012. EXPOSURE Cases were grouped on the basis of the presence or absence of an optic fissure closure defect (OFCD); those with OFCD were further subdivided into microphthalmic and nonmicrophthalmic cases. Anophthalmic cases were considered as a separate group. Main Outcomes and Measures: Associated ocular and systemic abnormalities and inheritance patterns were assessed. Results: Of 141 cases, 61 (43%) were microphthalmic non-OFCD (NOFCD), 34 (24%) microphthalmic OFCD, 32 (23%) nonmicrophthalmic coloboma (OFCD), 9 (6%) anophthalmic, and 5 (4%) were unclassified. Sixty-three (45%) had bilateral disease. Eighty-four patients (60%) had an associated ocular abnormality; of these, cataract (P < .001) and posterior segment anomalies (P < .001) were most common in the NOFCD group. Forty-eight (34%) had an associated systemic abnormality, most commonly neurological, musculoskeletal and facial, urological and genital, or cardiac. Neurological abnormalities were most common in the anophthalmic group (P = .003), while urological abnormalities were particularly seen in the OFCD groups (P = .009). Familial cases were identified in both the OFCD and NOFCD groups, with a likely autosomal dominant inheritance pattern in 9 of 10 families. Conclusions and Relevance: This series indicated that the OFCD/NOFCD distinction may be useful in guiding evaluation for ocular and systemic associations, as well as the direction and analysis of genetic investigation.

Original languageEnglish
Pages (from-to)1517-1524
Number of pages8
JournalJAMA Ophthalmology
Issue number12
Publication statusPublished - Dec 2013
Externally publishedYes

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