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Developmental Anterior Segment and Lens Anomalies/Dysgenesis

CHRONIC — Lens

Symptoms

infancy/childhood observation of corneal cloudiness or iris abnormalities

asymmetric red reflex

neonatal glaucoma triad: epiphora, photophobia, blepharospasm

asymptomatic iop elevation in older children

vision loss from amblyopia, anisometropia, or corneal opacity

positive family history (often autosomal dominant)

Clinical Findings

Axenfeld–rieger spectrum

  • posterior embryotoxon: anteriorly displaced, prominent schwalbe line
  • iris changes: peripheral iris strands to schwalbe line, atrophy, corectopia, and pseudopolycoria
  • axenfeld anomaly: isolated angle findings
  • rieger anomaly: angle findings plus iris abnormalities
  • rieger syndrome: ocular findings plus systemic features (dental, craniofacial, periumbilical)
  • glaucoma: develops in ~50% of cases

Peters anomaly

  • central corneal opacity with underlying posterior corneal/descemet defect
  • type i: iridocorneal adhesions only
  • type ii: keratolenticular contact or cataract
  • glaucoma: develops in ~50% of cases
  • peters-plus syndrome: includes short stature, developmental delay, and cleft lip/palate

Aniridia

  • panocular disorder with variable iris hypoplasia
  • foveal hypoplasia (presents with infancy-onset nystagmus and low vision)
  • progressive keratopathy (limbal stem cell deficiency), cataract, and optic nerve hypoplasia
  • glaucoma: develops in 50–75% of cases
  • wagr syndrome: wilms tumor, aniridia, genitourinary anomalies, mental retardation

General signs

  • congenital glaucoma: buphthalmos and haab striae (descemet breaks)
  • posterior embryotoxon alone: normal variant in 15% of the population

Etiology

Embryology

  • developmental arrest of neural-crest cells during anterior segment formation

Genetics

  • pitx2 and foxc1: associated with axenfeld–rieger spectrum
  • pax6: associated with aniridia and peters anomaly
  • cyp1b1: associated with primary congenital glaucoma
  • inheritance: typically autosomal dominant with variable expressivity; some sporadic cases

Red Flags

buphthalmos or elevated iop in infancy

corneal clouding or haab striae in newborns

foveal hypoplasia or nystagmus (red flag for aniridia)

missed wilms tumor screening in aniridia patients

iris atrophy with corectopia and systemic anomalies

Investigations

Ocular exam

  • complete ophthalmic exam: corneal diameter, gonioscopy, iop, and disc evaluation
  • exam under anesthesia (eua) often required for accurate measurements in infants
  • cycloplegic refraction and visual acuity assessment

Imaging and monitoring

  • a-scan ultrasound: serial axial length monitoring for buphthalmos
  • fundus photography for serial disc documentation

Systemic screening

  • genetic testing: pitx2, foxc1, pax6, cyp1b1, or microarray for 11p13 (aniridia)
  • renal ultrasound (aniridia/wagr): every 3 months until age 5, then every 6–12 months until age 8
  • multidisciplinary referral: dental, cardiac, craniofacial, and endocrine evaluations

Treatment

Medical and refractive

  • refractive correction and aggressive amblyopia therapy
  • glaucoma meds: beta-blockers, pgans, or cais (avoid pilocarpine as it is ineffective)

Surgical intervention

  • glaucoma surgery: goniotomy or trabeculotomy (first-line); tube shunts for refractory cases
  • structural surgery: cataract extraction or corneal transplant (staged with glaucoma control)

Systemic management

  • co-management with pediatric specialists for wilms tumor and systemic defects

Differential Diagnosis

  • peters anomaly
  • rieger anomaly/syndrome
  • aniridia
  • iridocorneal endothelial (ice) syndrome
  • primary congenital glaucoma

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