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High β-trace protein concentration in the fluid of an orbital cyst associated with bilateral colobomatous microphthalmos
  1. C E Decock1,*,
  2. C M Breusegem1,*,
  3. E H Van Aken1,
  4. B P Leroy1,2,
  5. C M Van Den Broecke3,
  6. J R Delanghe4
  1. 1Department of Ophthalmology, Ghent University Hospital, Ghent, Belgium
  2. 2Centre for Medical Genetics, Ghent University Hospital, Ghent, Belgium
  3. 3Department of Pathology, Ghent University Hospital, Ghent, Belgium
  4. 4Department of Clinical Chemistry, Ghent University Hospital, Ghent, Belgium
  1. Correspondence to: Dr C E Decock Department of Ophthalmology, Ghent University Hospital, De Pintelaan 185, 9000 Ghent, Belgium; christian_decock{at}

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Bilateral colobomatous microphthalmos with orbital cyst is a rare congenital anomaly.1–3 It arises between the sixth to seventh weeks of gestation, is usually isolated, and can be either unilateral or bilateral. Association with systemic anomalies may occur, and the involvement of chromosomes 3, 5, 13, 18 and 22 has been reported.3

Here, we describe a newborn presenting with bilateral colobomatous microphthalmos with a right orbital cyst. After excision of the cyst, histopathology of the cyst wall was performed and several biochemical parameters of its fluid content were evaluated.

Case report

A newborn presented with bilateral microphthalmos. She was the product of a pregnancy complicated by vitamin A deficiency, documented from at least week 16 to week 24 of gestation, after previous gastric bypass surgery in her 32-year-old mother.

Clinical examination of the newborn showed bilateral microphthalmos. At the right side, a small eye was displaced upwards by a large cyst (fig 1A, B). The cornea with a diameter of 3 mm was diffusely cloudy. A circular pupil and some pupillary membrane remnants were observed. At the left side, microphthalmos was much less pronounced. Some retinal blood vessels were observed …

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  • * These authors contributed equally to this work.

  • Competing interests: None declared.