Aniridia

Last updated: February 8, 2026Reviewed date: February 8, 2026Reading time: 12 min read
Patient Tools

Read, save, and share this guide

Use these quick tools to make this medical article easier to read, print, save, or share with a family member.

Patient Mode

Understand this article easily

Switch between simple English and easy Bangla patient notes. This is for education and does not replace a doctor consultation.

Aniridia is a rare condition characterized by a progressive fibrotic membrane within the anterior chamber that occurs after ocular surgery or by abnormal development of the iris of the eye. The iris is the circular, colored part in the middle of the eyeball. The center...

For severe symptoms, danger signs, pregnancy, child illness, or sudden worsening, seek urgent medical care.

বাংলা রোগী নোট এখনো যোগ করা হয়নি। পোস্ট এডিটরে “RX Bangla Patient Mode” বক্স থেকে সহজ বাংলা সারাংশ যোগ করুন।

এই তথ্য শিক্ষা ও সচেতনতার জন্য। এটি ডাক্তারি পরীক্ষা, রোগ নির্ণয় বা প্রেসক্রিপশনের বিকল্প নয়।

Article Summary

Aniridia is a rare condition characterized by a progressive fibrotic membrane within the anterior chamber that occurs after ocular surgery or by abnormal development of the iris of the eye. The iris is the circular, colored part in the middle of the eyeball. The center of the iris is known as the pupil. The iris can control the size of the pupil, which regulates the...

Key Takeaways

  • This article explains Types in simple medical language.
  • This article explains Causes in simple medical language.
  • This article explains Symptoms in simple medical language.
  • This article explains Diagnosis in simple medical language.
Educational health guideWritten for patient understanding and clinical awareness.
Reviewed content workflowUse writer and reviewer profiles for stronger trust.
Emergency safety firstUrgent warning signs are highlighted below.

Seek urgent medical care if you notice

These warning signs are general safety guidance. Local emergency numbers and clinical judgment should always come first.

  • Sudden vision loss, severe eye pain, new flashes, or many new floaters.
  • Eye symptoms after injury or chemical exposure.
  • Rapidly worsening redness, swelling, or vision changes.
1

Emergency now

Use emergency care for severe, sudden, rapidly worsening, or life-threatening symptoms.

2

See a doctor

Book a professional medical evaluation if symptoms persist, worsen, recur often, affect daily activities, or occur in a high-risk patient.

3

Learn safely

Use this article to understand possible causes, tests, treatment options, prevention, and questions to ask your clinician.

Before reading

RX Patient Tools

Use these quick guides before reading the article, or return to them when you need help preparing questions for a doctor.

Start here Choose the right pathway for symptoms, reports, medicines, or urgent warning signs. Disease article roadmap Read this topic step by step: meaning, symptoms, warning signs, diagnosis, treatment, prevention, and follow-up. Treatment planner Prepare questions about treatment choices, benefits, risks, side effects, and follow-up. Family & caregiver guide Organize symptoms, reports, medicines, questions, and follow-up safely. Nutrition & diet guide Prepare food, hydration, supplement, and medicine-timing questions safely. Prevention guide Organize risk factors, protective habits, screening, and warning signs. Recovery guide Prepare a safe plan for activity, rehabilitation, warning signs, and follow-up.
Definition

Aniridia is a rare condition characterized by a progressive fibrotic membrane within the anterior chamber that occurs after ocular surgery or by abnormal development of the iris of the eye. The iris is the circular, colored part in the middle of the eyeball. The center of the iris is known as the pupil. The iris can control the size of the pupil, which regulates the amount of light that enters the eye. Aniridia is a condition in which the iris is either partly or completely missing. Various forms of aniridia have been identified. Each form can be determined by what additional symptoms are present.

Types

The various hypothesis regarding the etiopathogenesis of aniridia include:

  • Aniridia may be a subtype of iris coloboma.
  • Neuroectodermal theory – Aniridia develops from an anomaly of neuroectodermal development – this theory has support from the association of aniridia with neuroectodermal defects like the absence of iris muscles and foveal hypoplasia. Mesodermal theory suggests that there is an abnormality in the development of mesodermal tissues like optic nerve head hypoplasia; this does not explain foveal hypoplasia which commonly accompanies aniridia.

Classification of congenital aniridia:

  • Autosomal dominant congenital aniridia– It consists of at least two-thirds of cases of congenital aniridia and may be present in up to 85% of cases with aniridia. This variant is autosomal dominant and the most common form of aniridia; it has complete penetrance but variable expressivity. Thus family members may have different severity of aniridia, ocular involvement, and visual acuity. Some cases may have subtle iris hypoplasia or iris coloboma.
  • Sporadic congenital aniridia– There is a de novo mutation of the PAX6 gene and may consist in 13% to 33% of cases with aniridia. An important fact is that this variant of aniridia correlates with nephroblastoma (Wilms tumor) as a part of WAGR syndrome (Wilms tumor, aniridia, genitourinary anomalies, and mental retardation), also known as Miller syndrome. The genitourinary anomalies include undescended testes in males and streak gonads (nonfunctional ovaries) and/or bicornuate uterus in females. Intellectual disability includes difficulty in learning and processing information. There might be other manifestations, including attention deficit hyperactivity disorder, obsessive-compulsive disorder, depression, and anxiety. There may be craniofacial dysmorphism.
  • Autosomal recessive congenital aniridia- It consists of 1% to 3% of all congenital aniridia cases and is the least common variant of congenital aniridia. It has associations with cerebellar ataxia and mental retardation (Gillespie syndrome).

Causes

The exact cause of congenital aniridia is unknown. However, the paired box gene (PAX6) gene at chromosome 11p13 is a crucial factor in pathogenesis. This gene is involved in the development of essential organs, including the eye, pancreas, brain, and spinal cord during embryonic development.

Most forms of isolated aniridia are caused by harmful changes (mutations) in the PAX6 gene causing it to not work normally. This condition typically follows an autosomal dominant pattern. Most people with aniridia have a parent with aniridia. Some patients appear to have a spontaneous, new genetic variant.

Gillespie syndrome is caused by harmful gene changes in the ITPR1 gene. Gillespie syndrome follows an autosomal dominant pattern, or it can occur as a new genetic change.

WAGR syndrome is mainly caused by missing genetic information along chromosome 11. This missing genetic information sometimes encompasses the PAX6 and WT1 genes. WAGR syndrome gene deletions can occur in a dominant pattern. WAGR syndrome gene deletions can also occur for the first time in the affected individual.

We all have two copies of every gene. Dominant genetic disorders occur when only a single copy of a non-working gene is necessary to cause a particular disease. The non-working gene can be inherited from either parent or can be the result of a new changed (mutated) gene in the affected individual. The risk of passing the non-working gene from an affected parent to an offspring is 50% for each pregnancy. The risk is the same for males and females.

Sometimes a genetic cause for aniridia cannot be identified.

Treatment

Treatment of aniridia is usually directed at improving and preserving vision. Drugs or surgery may be helpful for glaucoma and/or cataracts. Contact lenses may be beneficial in some cases. When a genetic cause cannot be identified, patients should be evaluated for the possibility of the development of Wilms’ tumor. (For more information on this disorder, please choose “Wilms” as your search term in the Rare Disease Database.)

Aniridia-associated keratopathy:

Phase 0 (subclinical limbal stem cell deficiency and phase 1 (slight limbal stem cell deficiency, less than 2 corneal epithelial erosion or ulcer in last 6months, corneal pannus less than 1mm from limbus, mild watering and photophobia, and fluorescein staining abnormality)  The dry eye and keratopathy need frequent artificial tear drops (free of preservatives). Antiglaucoma drops with preservatives may worsen the corneal surface.

Phase 2 (Moderate limbal insufficiency, constant redness, watering, and photophobia, more than three corneal erosions or ulcers in the last six months, constant tear film instability, vascular pannus) – amniotic membrane transplant or autologous serum is used.

Phase 3 (severe limba insufficiency, corneal vascularization, loss of vision)- Autologous transplant of limbal epithelial cells is not possible due to bilateral involvement. Management options include:

  • 2 stage surgery involving initial replenishment of the limbal stem cells followed by surgery for visual rehabilitation

    • Options for replenishing limbal stem cells include:

      • Keratolimbal allografts
      • Cultured limbal stem cell transplant
      • Cultured oral mucosal epithelial transplantation 

    • Options for visual rehabilitation include

      • Deep anterior lamellar keratoplasty
      • Penetrating keratoplasty
  • Simultaneous surgeries for both replenishment of the limbal stem cells and restoration of media clarity by keratoplasty have also been successful.
  • Boston keratoprosthesis may be helpful in the visual rehabilitation of patients with severe aniridia-associated keratopathy.

However, the survival of corneal graft is often poor due to multiple causes, including corneal vascularization, limbal stem cell deficiency, severe dry eye, and glaucoma.

The associated squint and ptosis may need correction.

Aniridic chronic injury or inflammation. সহজ বাংলা: অতিরিক্ত দাগের মতো টিস্যু তৈরি হওয়া।" data-rx-term="fibrosis" data-rx-definition="Fibrosis means excess scar-like tissue formation after chronic injury or inflammation. সহজ বাংলা: অতিরিক্ত দাগের মতো টিস্যু তৈরি হওয়া।">fibrosis syndrome needs early surgical intervention to remove the membranes.

Systemic diseases need a collaborative approach of specialists of different subspecialties.

In 2018, the FDA approved the first artificial iris, a surgically implanted device to treat adults and children with aniridia. This device may help to reduce light sensitivity and glare and improve the cosmetic appearance of the eye.

Genetic counseling is recommended. Another treatment is symptomatic and supportive.

References

Doctor visit helper

Prepare before seeing a doctor

A simple rural-patient checklist to help you explain symptoms clearly, ask better questions, and avoid unsafe self-treatment.

Safety note: This is not a prescription or diagnosis. For severe symptoms, pregnancy danger signs, children with serious illness, chest pain, breathing difficulty, stroke-like weakness, or major injury, seek urgent care.

Which doctor may help?

Start with a registered doctor or the nearest qualified health center.

What to tell the doctor

  • Write when the problem started and how it changed.
  • Bring old prescriptions, investigation reports, and current medicines.
  • Write allergies, pregnancy status, diabetes, kidney/liver disease, and major past illnesses.
  • Bring one family member if the patient is weak, elderly, confused, or a child.

Questions to ask

  • What is the most likely cause of my symptoms?
  • Which danger signs mean I should go to hospital quickly?
  • Which tests are necessary now, and which can wait?
  • How should I take medicines safely and what side effects should I watch for?
  • When should I come for follow-up?

Tests to discuss

  • Vital signs: temperature, pulse, blood pressure, oxygen saturation
  • Basic physical examination by a clinician
  • CBC, urine test, blood sugar, or imaging only when clinically needed

Avoid these mistakes

  • Do not use antibiotics, steroid tablets/injections, or strong painkillers without proper medical advice.
  • Do not hide pregnancy, kidney disease, ulcer, allergy, or blood thinner use.
  • Do not delay emergency care when danger signs are present.

Medicine safety and first-aid guide

This section is for patient education only. It does not replace a doctor, pharmacist, or emergency care.

Safe first steps

  • Avoid heavy lifting, sudden bending, and prolonged bed rest.
  • Use comfortable posture and gentle movement as tolerated.
  • Discuss physiotherapy, X-ray, or MRI only when clinically needed.

OTC medicine safety

  • For mild back pain, pain-relief medicine may be discussed with a doctor or pharmacist.
  • Avoid repeated painkiller use if you have kidney disease, stomach ulcer, uncontrolled blood pressure, or are taking blood thinners.

Avoid these mistakes

  • Do not start antibiotics without a proper medical decision.
  • Do not use steroid tablets or injections casually for quick relief.
  • Do not delay emergency care because of home remedies.

Get urgent help if

  • Back pain with leg weakness, numbness around private area, loss of urine/stool control, fever, cancer history, or major injury needs urgent care.
Medicine names, dose, and timing must be decided by a qualified clinician or pharmacist after checking age, pregnancy, allergy, other diseases, and current medicines.

For rural patients and family caregivers

Patient health record and symptom diary

Write your symptoms, medicines already taken, test results, and questions before visiting a doctor. This note stays on your device unless you print or copy it.

Doctor to discuss: Doctor / qualified healthcare provider
Tests to discuss with doctor
  • Basic vital signs: temperature, pulse, blood pressure, oxygen level if needed
  • Relevant blood, urine, imaging, or specialist tests only after clinical assessment
Questions to ask
  • What is the most likely cause of my symptoms?
  • Which warning signs mean I should go to emergency care?
  • Which tests are really needed now?
  • Which medicines are safe for my age, pregnancy status, allergy, kidney/liver/stomach condition, and current medicines?

Emergency warning signs such as chest pain, severe breathing difficulty, sudden weakness, confusion, severe dehydration, major injury, or loss of bladder/bowel control need urgent medical care. Do not wait for online information.

Safe pathway to proper treatment

Care roadmap for: Aniridia

Use this simple roadmap to understand the next safe steps. It is educational and does not replace examination by a doctor.

Go to emergency care if you notice:
  • Severe or rapidly worsening symptoms
  • Breathing difficulty, chest pain, fainting, confusion, severe weakness, major injury, or severe dehydration
Doctor / service to discuss: Qualified healthcare provider; specialist depends on symptoms and examination.
  1. Step 1

    Check danger signs first

    If danger signs are present, seek emergency care and do not wait for online information.

  2. Step 2

    Record the symptom story

    Write when symptoms started, severity, medicines already taken, allergies, pregnancy status, and test results.

  3. Step 3

    Visit a qualified clinician

    A doctor, nurse, or qualified healthcare provider can examine you and decide which tests or treatment are needed.

  4. Step 4

    Do only useful tests

    Do tests after clinical assessment. Avoid unnecessary tests, random antibiotics, or repeated medicines without diagnosis.

  5. Step 5

    Follow up and return early if worse

    If symptoms worsen, new warning signs appear, or treatment is not helping, return for review quickly.

Rural patient practical tips
  • Take a written symptom diary and all previous prescriptions/test reports.
  • Do not hide medicines already taken, even herbal or over-the-counter medicines.
  • Ask which warning signs mean urgent referral to hospital.

This roadmap is for education. A real diagnosis and treatment plan requires history, examination, and clinical judgment.

RX Patient Help

Ask a health question safely

Write your symptom story. A health professional or site editor can review it before any answer is prepared. This box is not for emergency care.

Emergency first: Severe chest pain, breathing trouble, unconsciousness, stroke signs, severe injury, heavy bleeding, or rapidly worsening symptoms need urgent local medical care now.

Frequently Asked Questions

Is this article a replacement for a doctor?

No. It is educational content only. Patients should consult a qualified clinician for diagnosis and treatment.

When should I seek urgent care?

Seek urgent care for severe symptoms, rapidly worsening condition, breathing difficulty, severe pain, neurological changes, or any emergency warning sign.

References

Add references, clinical guidelines, textbooks, journal articles, or trusted medical sources here. You can edit this area from the RX Article Professional Blocks panel.

More from this topic
  1. Congenital Enterocyte Heparan Sulfate Deficiency

    DefinitionCongenital? enterocyte heparan sulfate deficiency is a very rare, severe, genetic intestinal disease. In this condition, the small bowel lining cells, called enterocytes, do not show...

    April 3, 2026 • Rx Autoimmune, Genetic and Rare Diseases (A - Z)
  2. Congenital Iris Ectropion

    DefinitionCongenital? iris ectropion is more commonly called congenital? ectropion uveae. It is a rare developmental eye condition present from birth in which the dark pigment layer...

    April 2, 2026 • Rx Eye & Vision Care (A - Z)
  3. Congenital ectropion uveae

    DefinitionCongenital? ectropion uveae, often shortened to CEU, is a very rare eye condition present from birth. In this condition, the dark pigment layer that normally stays...

    April 2, 2026 • Rx Autoimmune, Genetic and Rare Diseases (A - Z)
  4. Congenital Dyserythropoietic Anemia, Type III

    DefinitionCongenital? dyserythropoietic anemia?, type III, also called CDA type III, is a very rare inherited blood disease. In this disease, the bone marrow tries to make...

    April 2, 2026 • Rx Autoimmune, Genetic and Rare Diseases (A - Z)
  5. Congenital Dyserythropoietic Anemia Type I

    DefinitionCongenital? dyserythropoietic anemia?, type I, usually called CDA type I, is a rare inherited blood disease. In this disease, the bone marrow tries to make red...

    April 1, 2026 • Rx Autoimmune, Genetic and Rare Diseases (A - Z)
  6. Congenital Dyserythropoietic Anemia Due to KLF1 Mutation

    DefinitionCongenital? dyserythropoietic anemia? due to KLF1 mutation is a very rare inherited red blood cell disease. In most reported cases, doctors describe it as congenital? dyserythropoietic...

    April 1, 2026 • Rx Autoimmune, Genetic and Rare Diseases (A - Z)
  7. Congenital Dyserythropoietic Anemia Due to KLF1 Mutation

    DefinitionCongenital? dyserythropoietic anemia? due to KLF1 mutation is a very rare inherited red blood cell disease. In most reported cases, doctors describe it as congenital? dyserythropoietic...

    April 1, 2026 • Rx Autoimmune, Genetic and Rare Diseases (A - Z)
  8. HEMPAS – Hereditary Erythroblast Multinuclearity with Positive Acid Serum Test

    DefinitionHEMPAS – Hereditary Erythroblast Multinuclearity with Positive Acid Serum Test is a rare inherited blood disease. Its full old name is hereditary erythroblastic multinuclearity with positive...

    April 1, 2026 • Rx Autoimmune, Genetic and Rare Diseases (A - Z)
  9. Congenital Dyserythropoietic Anemia Type 2

    DefinitionCongenital? dyserythropoietic anemia? type 2, also called CDA type II, is a rare inherited blood disease. In this disease, the body makes red blood cells in...

    April 1, 2026 • Rx Autoimmune, Genetic and Rare Diseases (A - Z)
  10. Component of Oligomeric Golgi Complex 2–Congenital Disorder of Glycosylation

    DefinitionComponent of oligomeric Golgi complex 2–congenital? disorder of glycosylation is usually called COG2-CDG. It is a very rare inherited metabolic disease. In this disease, both copies...

    April 1, 2026 • Rx Autoimmune, Genetic and Rare Diseases (A - Z)