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Peters Anomaly

Congenital corneal opacity in anterior segment dysgenesis

Written by: Saygı Hospital Health Guide Editorial Board
Last updated:

This content has been compiled by the Saygı Hospital Health Guide Editorial Board and is periodically reviewed by a specialist physician.

References (5)

This content is for informational purposes only and does not constitute medical advice. You can book an appointment at our Göz Hastalıkları department. Book Appointment →

What is Peters Anomaly?

Peters anomaly is caused by mutations in PAX6, CYP1B1, FOXC1, PITX2, B3GLCT, and other developmental genes affecting neural crest migration during eye development. Type 1 (iridocorneal adhesions) is most common, Type 2 includes lenticulocorneal adhesions or cataract, and Peters Plus syndrome (B3GLCT mutation) features systemic findings (cleft lip/palate, short stature, intellectual disability, cardiac anomalies).

Central corneal opacity blocks early visual development, causing dense deprivation amblyopia if not addressed within the first months of life. The opacity may be partial or complete, unilateral or bilateral. Associated features include shallow anterior chamber, glaucoma (50-70% of cases), microphthalmos, microcornea, sclerocornea, and other anterior segment dysgenesis findings.

Treatment requires urgent evaluation and individualized planning by pediatric ophthalmology with corneal subspecialty input. Optical iridectomy may be considered for paracentral opacities. Pediatric penetrating keratoplasty offers visual rehabilitation in selected cases despite high risk of graft failure. Aggressive amblyopia management with patching and refractive correction is essential. Long-term outcomes depend on opacity severity, surgical timing, glaucoma control, and amblyopia compliance.

Symptoms

Central white corneal opacity at birth
Iridocorneal adhesions (Type 1)
Lenticulocorneal adhesions or cataract (Type 2)
Reduced red reflex
Microphthalmos
Microcornea
Sclerocornea
Shallow anterior chamber
Elevated intraocular pressure
Buphthalmos (large eye in glaucoma)
Tearing, photophobia
Nystagmus (if bilateral severe involvement)
Strabismus
Visual deprivation amblyopia
Cleft lip/palate (Peters Plus)
Short stature (Peters Plus)
Intellectual disability (Peters Plus)
Cardiac anomalies (Peters Plus)
Brachydactyly (Peters Plus)

Risk Factors

PAX6 gene mutation
CYP1B1 gene mutation (autosomal recessive)
FOXC1, FOXE3, PITX2, PITX3 mutations
B3GLCT mutation (Peters Plus syndrome)
Family history of anterior segment dysgenesis
Consanguineous parentage
Maternal alcohol exposure during pregnancy (fetal alcohol spectrum)
Maternal warfarin or other teratogen exposure
Intrauterine infection (rare)
Maternal diabetes (controversial)
Other neural crest disorders
WAGR syndrome (rare overlap)
Walker-Warburg syndrome
Congenital rubella (historical)
Sporadic mutations (most common in isolated cases)

When to See a Doctor?

If you experience any of the following symptoms, seek medical attention promptly:

  • Newborn with white corneal opacity
  • Reduced or absent red reflex on newborn screening
  • Family history of anterior segment dysgenesis
  • Cleft lip/palate with eye anomalies
  • Buphthalmos or large cornea in infant
  • Photophobia, tearing in infant
  • Asymmetric eye size
  • Suspected glaucoma in infant
  • Microphthalmos
  • Strabismus or nystagmus in infant
  • Suspected congenital cataract
  • Failed visual fix-and-follow
  • Considering pregnancy with family history (genetic counseling)
  • Postnatal evaluation of any structural eye abnormality

Treatment Methods

01
Urgent evaluation by pediatric ophthalmologist with corneal subspecialty input
02
Examination under anesthesia (EUA) for accurate assessment
03
Anterior segment OCT and ultrasound biomicroscopy (UBM) to characterize opacity, lens, and angle
04
Genetic testing for PAX6, CYP1B1, FOXC1, PITX2, B3GLCT mutations
05
Pediatric and medical genetics consultation for syndromic features
06
Cardiac, neurological, and growth evaluation if Peters Plus suspected
07
Glaucoma assessment with IOP measurement under anesthesia
08
Topical IOP-lowering medications and aqueous shunt or trabeculectomy as needed
09
Optical iridectomy for paracentral opacities to enable visual development
10
Pediatric penetrating keratoplasty (PKP) for central dense opacities
11
Boston keratoprosthesis Type 1 in selected older children with multiple graft failures
12
Cataract surgery if lenticulocorneal adhesions or cataract
13
Aggressive amblyopia therapy with patching and refractive correction
14
Aphakic contact lenses or intraocular lens (selected cases)
15
Frequent postoperative monitoring for graft rejection, infection, glaucoma
16
Topical steroids and lifelong glaucoma surveillance
17
Visual rehabilitation and low vision services
18
Educational accommodations and developmental support
19
Multidisciplinary follow-up including ophthalmology, pediatrics, genetics, and pediatric subspecialties
20
Long-term prognosis depends on opacity severity, glaucoma control, and amblyopia compliance

Which Department to Visit?

You can visit our Göz Hastalıkları department for these complaints. Our specialist physicians will create the most suitable treatment plan for you.

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Health Disclaimer: The information on this page is prepared for general informational purposes only. It does not replace medical diagnosis and treatment. Please consult your physician for your complaints. Saygı Hospital does not accept responsibility for actions taken based on the information on this page.