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PP-055 Peter’s anomaly – a rare cause of visual impairment in paediatrics
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  1. Harris Sharif1,2
  1. 1Mullingar Regional Hospital Westmeath Ireland
  2. 2Nottingham University UK

Abstract

Aim Presenting case report of Peter’s anomaly.

Material and Method Eight-month-old female infant who at birth was noted to have dysmorphic features (depressed nasal bridge, mid facial hypoplasia, low set ears and hypertelorism) and eyes malformations in form of bilateral corneal opacities, left eye proptosis, left megalocornea and bilateral cataracts. There was mild generalised hypotonia otherwise normal systemic examination. Genetic tests were done and given her eye features she was referred to the Ophthalmologist. Her microarray showed loss of approx. 2.4 Mb in short arm of chromosome 6 at band 6p25.3-p25.2 between base pairs 163083 and 2527433. This loss includes FOXC1(OMIM 601090) gene which has a strong association with abnormal eye development and Peters anomaly. Her other tests including TORCH screening, homocysteine levels and urine for CMV were all reported normal. She had bilateral corneal grafts and lens extraction. Currently she can perceive light but there are on-going concerns about her vision. Her growth and development to date are appropriate. Peters Anomaly (PA) is a rare form of developmental malformation involving the anterior segment of the eye as well as other body organs. Anterior chamber dysgenesis is characterized by corneal opacity and various other anomalies which can result in amblyopia of varying degree or even blindness. It can be unilateral or bilateral, isolated, or associated with systemic malformations. In one study bilateral eye involvement was associated with a higher rate of systemic malformations (71.8%) when compared to unilateral involvement (36.8%). Early recognition and treatment may help to prevent complications in these patients.

Results Case report.

Conclusions Case report.

  • rare genetic condition

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