May 2004
Volume 45, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2004
Early Diagnosis of Organoid Nevus Syndrome, a Rare Phakomatosis: Implications for Surgical Management
Author Affiliations & Notes
  • S.C. N. Oliver
    Ophthalmology, Rocky Mountain Lions Eye Institute, University of Colorado, Aurora, CO
  • A.P. Ciardella
    Ophthalmology, Denver Health Medical Center, Rocky Mountain Lions Eye Institute, University of Colorado, Denver, CO
  • V.D. Durairaj
    Ophthalmology, Rocky Mountain Lions Eye Institute, University of Colorado, Aurora, CO
  • R. Sands
    Ophthalmology, Rocky Mountain Lions Eye Institute, University of Colorado, Aurora, CO
  • J. Conway
    Ophthalmology, Cornell Ophthalmology Associates, Cornell University, New York, NY
  • Footnotes
    Commercial Relationships  S.C.N. Oliver, None; A.P. Ciardella, None; V.D. Durairaj, None; R. Sands, None; J. Conway, None.
  • Footnotes
    Support  none
Investigative Ophthalmology & Visual Science May 2004, Vol.45, 3570. doi:
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      S.C. N. Oliver, A.P. Ciardella, V.D. Durairaj, R. Sands, J. Conway; Early Diagnosis of Organoid Nevus Syndrome, a Rare Phakomatosis: Implications for Surgical Management . Invest. Ophthalmol. Vis. Sci. 2004;45(13):3570.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

Abstract: : Purpose: To describe early diagnosis of the organoid nevus syndrome, a rare phakomatosis, with implications for early management. Methods:Two prospectively followed pediatric cases of organoid nevus syndrome. Results: A six–year–old male and a one–day–old female, both products of a normal getstation and delivery, were referred for obvious ocular malformations. Sebaceous nevi extended from the midface into the scalp. Upper eyelid colobomas were present, and the infant had a pedunculated left lateral canthal polyp. Epibulbar choristomas extended from the colobomatous lid skin to the superior limbus. The infant exhibited bilateral patchy corneal neovascularization, corectopia, and cortical calcification of the crystalline lens. Fundoscopy in both cases revealed hypoplastic nerves and bilateral superonasal creamy white patches deep to the retina. Ultrasound and computed tomography confirmed calcification of these scleral lesions. The infant also has temporal lobar hypoplasia and a large arachnoid cyst. Systemic workup was negative in both cases. Eyelid defects in the young boy were routinely repaired without complication. Acuity remains 20/20 OU. In contrast, the infant's left epibulbar choristoma enlarged, causing hypodeviation. Corneal neovascularization progressed to partial obscuration of the visual axis. Necessary therapeutic interventions include epibulbar choristoma excision, eyelid coloboma reconstruction, lamellar keratoplasty, seizure screening, and sebaceous nevus excision. Conclusions: The organoid nevus syndrome is extremely rare and frequently diagnosed in childhood or early adulthood. We describe two cases of variable severity, one of which is followed prospectively since birth. Progress is discussed on her management plan and attempt to maximize visual function.

Keywords: anterior segment • mutations • sclera 
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