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Condition report · Ophthalmological

Axenfeld-Rieger Syndrome and Aniridia

These inherited conditions affect how the front of the eye (the iris, cornea and drainage angle) develops before birth. Many people with them develop glaucoma, so lifelong eye-pressure checks are important.

A condition report looks for rare variants known to cause the conditions it covers.

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The 3 conditions we analyse

Anterior Segment Dysgenesis

A group of developmental conditions of the front of the eye, including Peters anomaly, caused by changes in genes such as FOXC1, PITX3, FOXE3, CYP1B1 and CPAMD8.

What a diagnosis changes

There is a high lifetime risk of glaucoma, so regular eye-pressure monitoring is recommended.

Genes analysed

Also known as

anterior segment mesenchymal dysgenesis; anterior segment ocular dysgenesis; ASGD; ASMD; ASOD; familial ocular anterior segment mesenchymal dysgenesis

Includes 20 related subtypes ↓
  • aniridia-cerebellar ataxia-intellectual disability syndrome
  • anterior segment dysgenesis 1
  • anterior segment dysgenesis 3
  • anterior segment dysgenesis 4
  • anterior segment dysgenesis 6
  • anterior segment dysgenesis 7
  • anterior segment dysgenesis 8
  • Axenfeld-Rieger syndrome type 3
  • bilateral acute depigmentation of the iris
  • chromosome 6pter-p24 deletion syndrome
  • congenital ectropion uveae
  • congenital microcoria
  • congenital primary aphakia
  • FOXC1-related anterior segment dysgenesis
  • iridogoniodysgenesis
  • isolated iridoschisis
  • Peters anomaly
  • Peters anomaly-cataract syndrome
  • Rieger anomaly
  • von Hippel anomaly
MONDO:0019503Orphanet 88632MedGen 350766

Axenfeld-Rieger Syndrome

Autosomal dominant

A dominant condition caused by changes in PITX2 or FOXC1, affecting the iris and drainage angle and sometimes the teeth, face and navel.

What a diagnosis changes

Lifelong glaucoma surveillance is recommended, as about half of affected people develop glaucoma.

Genes analysed

Also known as

ARS; Axenfeld syndrome; Axenfeldt-Rieger syndrome; goniodysgenesis hypodontia; iridogoniodysgenesis with somatic anomalies; Rieger syndrome

Includes 3 related subtypes ↓
  • Axenfeld-Rieger syndrome type 1
  • Axenfeld-Rieger syndrome type 2
  • Axenfeld-Rieger syndrome type 3
MONDO:0019187Orphanet 782MedGen 501192

Aniridia

Autosomal dominant

A dominant condition, usually caused by changes in or deletions of PAX6, in which the iris is partly or completely absent, often with reduced vision and nystagmus.

What a diagnosis changes

Regular monitoring for glaucoma, cataract and corneal changes is recommended; when a deletion also includes the nearby WT1 gene, children need screening for Wilms tumour.

Genes analysed

Also known as

aplasia of iris

Includes 5 related subtypes ↓
  • aniridia 1
  • aniridia 2
  • aniridia 3
  • isolated aniridia
  • Zazam Sheriff Phillips syndrome
MONDO:0019172Orphanet 77MedGen 1941

Limitations

  • Deletions or duplications involving PAX6, FOXC1 or the 11p13 region, and deletions in the regulatory DNA near PITX2, are important causes of these conditions. They need copy-number analysis and may be missed.

Other ophthalmological conditions

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