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Peters Anomaly: Review of the Literature

EBM Discussion. 2011.07.13 R1 李泳松. Peters Anomaly: Review of the Literature. Cornea 2011;00:000–000. INTRODUCTION. 1906: shallow anterior chamber, synechiae between the iris and cornea, central corneal leukoma, and a defect in the Descemet membrane

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Peters Anomaly: Review of the Literature

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  1. EBM Discussion 2011.07.13R1李泳松 Peters Anomaly: Review of the Literature Cornea 2011;00:000–000

  2. INTRODUCTION • 1906:shallow anterior chamber, synechiae between the iris and cornea, central corneal leukoma, and a defect in the Descemet membrane • Type I: central corneal opacity with iridocorneal adhesions • Type II: central corneal opacity with cataracts or corneolenticular adhesions • Peters plus syndrome: association with cleft lip/palate, short stature, abnormal ears, and mental retardation

  3. INTRODUCTION • Homeobox genes: responsible for abnormal neural crest cell migration to the posterior cornea • PAX6 gene,PITX2 gene, and FOXC1 gene • Sporadic; autosomal recessive and dominant

  4. REPRESENTATIVE CASE • 2-week-old girl for bilateral ‘‘cataracts.’ • 34 weeks gestation with a birth weight of 3500 g • bilateral central corneal leukomata • Light response, fundus, B scan: NP • IOP: 23mmHg(OU)

  5. 2.5 mm in diameter, OD 4.5 mm in diameter, OS

  6. REPRESENTATIVE CASE • Cleft lip • Tethered spinal cord and hydrocephalus. • Karyotype 46 XX. • Maternal history: seizure disorder and the use of lamotrigine (class C) during the first trimester of pregnancy. • 12 weeks of age: repairing the cleft lip and performing a penetrating keratoplasty

  7. METHODS • 1969 to 2009 • Published English ophthalmic literature • Exclusion: • no information was reported on ocular and systemic malformations • no information was reported on surgical interventions or outcomes • not report laterality of the lesion

  8. METHODS • Sex, laterality, systemic malformations, ocular malformations, surgical intervention, outcome, and chromosomal analysis • 2-tailed Fischer exact test

  9. RESULTS • 58 cases • Men(56%) versus women(44%) • Bilateral(67.2%) versus unilateral(32.8%) • Bilateral Peters anomaly with systemic malformations (71.8%) versus unilateral(36.8%) • 15 eyes where results of penetrating keratoplasty were reported, the overall success rate was 53%. • Type I (87.5%) versus type II (14.2%)

  10. DISCUSSION • Amblyopia: addressed within the first year of life • Success for penetrating keratoplasty was found between 22% and 83%: patient selection is vital to the outcome • Peripheral iridectomy • Pupil dilation

  11. DISCUSSION • Majority of cases to be sporadic, bilateral, and associated with other systemic malformations. • All patients diagnosed with this condition after birth should undergo chromosomal analysis and molecular genetic testing.

  12. DISCUSSION • Homeobox genes: regulate the expression of genes that direct the formation of structures of various parts of the developing embryo • PAX6, PITX2, and FOXC1 • Failure of the lens vesicle to separate from the surface ectoderm, which is responsible for Peters anomaly

  13. CONCLUSION • Genetic screening • Parents should consider genetic counseling • Systemic malformations • Type I should undergo penetrating keratoplasty or optical iridectomy within the first year of life • Type II remains a challenge

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