Eye and hearing diseases
An eye disease present from birth in which the iris, the colored part of the eye, is completely or partly missing. It usually affects both eyes. Other eye problems may also develop over time.
Not part of the panel of Türkiye's National Newborn Screening Programme (heel-prick test). Source
This page is translated from the Turkish original.
This disease is followed through the “Eye and hearing diseases” group.
A gene called PAX6 directs how the eye develops in the womb. A change in this gene disturbs the development of the iris and other structures of the eye. The center of the retina, which allows sharp vision, may also be underdeveloped. Sometimes aniridia is part of WAGR syndrome, which carries a risk of kidney tumors.
The iris problem is present from birth. Other problems may appear over the years.
The diagnosis is made from the family history and a detailed eye examination. A genetic test confirms the diagnosis by showing the gene change that causes the disease. In cases that seem to be new, the eyes of the mother and father are also examined carefully.
Treatment aims to protect and improve vision. Medicines or surgery may be needed for glaucoma and cataract. Contact lenses are helpful for some people. An artificial iris fitted with surgery, which reduces light sensitivity, is also an option. Frequent eye checks are recommended for children under eight years of age. In WAGR syndrome, or if no genetic cause is found, the kidneys are followed up regularly with ultrasound. The doctor who follows the disease decides which treatment is suitable.
It is inherited in a dominant way. The chance of passing it from an affected parent to a child is 1 in 2 in each pregnancy. About two thirds of patients receive the change from their mother or father. In the rest, the change is new and there are no other affected family members. Aniridia caused by an eye injury is not inherited. Genetic counselling is recommended.
Source: MedlinePlus Genetics: Aniridia · NORD: Aniridia · Orphanet: Isolated aniridia (ORPHA:250923)
These facts are taken from Orphanet and MedlinePlus records (last checked: October 7, 2026). Frequency values are approximate ranges.
Non-profit patient and family organizations in Türkiye working on this disease or disease group. Links are for information; Doktorclub is not affiliated with these organizations and does not endorse them.
We could not find a patient association specific to this disease.
For all rare diseases: Nadir Hastalıklar Federasyonu
Doktorclub does not diagnose, recommend treatments or refer you to hospitals or doctors. These pages are meant to help you talk with your doctor.
TürkiyeResearch and clinical trials
Researchers in Izmir produced small cornea models from the cells of patients with aniridia.
A clinical trial is a regulated study that tests whether a new treatment is safe and whether it works, in patients who volunteer. Most trials look for a certain age, genetic change and health condition. Taking part is voluntary.
ClinicalTrials.gov currently lists no active interventional studies for this disease. Last checked: October 7, 2026.
See all studies on ClinicalTrials.gov · Joining clinical trials
TürkiyeSGK and reimbursement
A drug used for a rare disease affecting the optic nerve has been added to reimbursement coverage.
USAResearch and clinical trials
A two-year, placebo-controlled study was carried out at 7 centers in the USA.
TürkiyeResearch and clinical trials
Gazi University studied the eyes of 27 children.
These codes identify the disease in international classifications and databases. They can help when you talk with your doctor or look for reliable sources.
Orphanet code: ORPHA:250923 · ICD-11 LA11.3
Codes checked against WHO ICD-11 and Orphanet on October 7, 2026.
This page provides general information and does not replace diagnosis or treatment. Talk to your doctor about symptoms, diagnosis and treatment.