You are currently viewing Axenfeld Syndrome :‎ Medical Notes & Mindmap

Axenfeld Syndrome is a rare genetic condition that affects how the eye grows and develops. It is caused by problems with the coloured part of the eye (the iris) and the front chamber of the eye (the space between the iris and the cornea).

Symptoms can include an iris coloboma (a hole or gap in the iris) that was present at birth, high intraocular pressure, and a cloudy cornea. It’s caused by changes in a gene called PAX6, and it can be passed down either in a dominant or recessive way.

A diagnosis can be made through a physical exam, an eye exam, and genetic testing. Surgery, eye drops, or laser therapy may be used to treat the condition.

Axenfeld Syndrome :‎ [MEDNOTES+MINDMAP]

  • Definition:

    • A rare genetic disorder characterized by abnormal development of the eye, including the iris, cornea, and anterior chamber of the eye.

  • Epidemiology:

    • Prevalence: estimated to be 1 in 500,000 individuals
    • Inheritance: autosomal dominant
    • Gender: affects both males and females equally
  • Natural history:

    • Symptoms typically present at birth or in early childhood
    • Progressive development of iris and cornea abnormalities, leading to vision impairment and increased risk of glaucoma
    • Risk of developing other eye complications, such as cataracts and retinal detachment
    • Development of systemic complications, including kidney and teeth abnormalities, in some cases
  • Types :

    • Type 1 (classic Axenfeld Syndrome): characterized by abnormal development of the iris, cornea, and anterior chamber of the eye
    • Type 2 (posterior embryotoxon): characterized by abnormal development of the iris and cornea, but with a normal anterior chamber
    • Type 3 (Rieger Syndrome): characterized by abnormal development of the iris, cornea, and anterior chamber, as well as dental and systemic abnormalities
    • Stages: progression of the disorder can be classified into early, intermediate, and advanced stages based on the severity of the eye abnormalities and development of complications.
  • Risk Factors :

    • Genetic predisposition
    • Family history of the condition
  • Etiology/Causes :

    • Mutations in the PAX6 gene
    • Abnormal development of the anterior segment of the eye
  • Signs :

    • Irregular shape of the iris
    • Anterior displacement of the Schwalbe’s line
    • Abnormalities in the cornea and iris
  • Symptoms :

    • Vision impairment
    • Glaucoma
    • Photophobia
  • Pathology/Pathogenesis :

    • Defects in the development of the anterior segment of the eye
    • Abnormal differentiation of the iris and cornea
    • Impaired regulation of the intraocular pressure
    • Damage to the optic nerve
  • Diagnosis :

    • Ophthalmologic examination
    • Genetic testing
  • Tests Required:

    • Ophthalmologic examination
    • Genetic testing
    • Imaging studies (such as CT or MRI) to assess the size and shape of the eye
  • Associated with/Strongly Associated with:

    • Aniridia
    • Glaucoma
    • Iris hypoplasia
    • Corneal changes
    • Dental abnormalities
    • Skeletal malformations
    • Renal malformations
  • Similar diseases/syndromes:

    • Peters’ Anomaly
    • Rieger Syndrome
    • Axenfeld-Rieger Syndrome
    • Aniridia
    • Anterior segment dysgenesis
  • Treatment:

    • Surgery to correct any ocular malformations
    • Medical management of associated glaucoma
    • Regular ophthalmologic follow-up to monitor for progression of disease
    • Management of any associated dental or skeletal malformations
    • Monitoring for associated renal malformations and appropriate management if necessary.

Dr. Arin Nandi

Passionate About Medical Science & Helping Future Doctors Achieve Top Ranks In Medical Exams. He is professionally a dentist as well as a public health expert from JIPMER working in department