Prevalence of oculo-auriculo-vertebral spectrum in dermolipoma

Jwu Khong, Thomas Hardy, Alan McNab

    Research output: Contribution to journalArticlepeer-review

    10 Citations (Scopus)


    Objective: To describe the observed frequency of oculo-auriculo-vertebral spectrum (OAVS) in patients with dermolipoma. Design: Retrospective case series. Participants: Patients with primary presentation of ocular dermolipoma. Methods: All patients with ocular dermolipoma or lipodermoid were identified from the authors' clinical databases from 1990 to 2011 inclusive. Case notes were reviewed retrospectively for the gender and age of presentation, the laterality of dermolipoma, and features of OAVS. Main Outcome Measures: The frequency of OAVS in patients with dermolipoma, the severity of the OAVS phenotype, and other concurrent ophthalmic features observed. Results: Thirty-four patients (24 females) presented with dermolipoma at ages ranging from 6 months to 57 years (mean, 20 years; median, 16 years). Twelve patients (35.5%) had features of OAVS (10 patients with dermolipoma had ipsilateral OAVS and 2 patients had contralateral features of OAVS). Ten patients with dermolipoma had hemifacial microsomia, and 2 patients had features of Goldenhar's syndrome. None of the patients had bilateral dermolipoma and OAVS. Other associated ophthalmic features were limbal dermoids (2 cases), lateral canthal coloboma (3 cases), and facial nerve palsy (1 case). Conclusions: Dermolipoma is an independent ocular association of OAVS that is more commonly observed than previously reported. It is an ocular feature in both the milder and more complex forms of the spectrum.

    Original languageEnglish
    Pages (from-to)1529-1532
    Number of pages4
    Issue number8
    Publication statusPublished - Aug 2013


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