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aniridia
ICD-10 Codes
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Description
Aniridia is a rare congenital condition characterized by the underdevelopment or complete absence of the iris, which is the colored part of the eye. This condition can affect one or both eyes and is often associated with other ocular defects.
The iris plays a crucial role in regulating the amount of light that enters the eye, and its absence or underdevelopment can lead to vision problems. In some cases, aniridia may be accompanied by other eye abnormalities, such as cataracts, glaucoma, or retinal detachment.
Aniridia is typically inherited in an autosomal dominant pattern, meaning that a single copy of the mutated gene is enough to cause the condition. The genetic mutation responsible for aniridia affects the development of the iris and can also impact other parts of the eye.
Symptoms of aniridia may include:
- Vision problems or blindness
- Sensitivity to light
- Eye pain or discomfort
- Abnormal pupil shape or size
In some cases, aniridia may be associated with other systemic conditions, such as Wilms tumor (a type of kidney cancer) or intellectual disability.
It's worth noting that aniridia is a rare condition, and its exact prevalence is unknown. However, it is estimated to affect about 1 in 64,000 births.
References:
- [3] Aniridia is a congenital, hereditary, bilateral, extreme form of iris hypoplasia that may be associated with other ocular defects.
- [4] Aniridia is a rare condition characterized by abnormal development of the iris of the eye. The iris is the circular, colored part in the middle ...
- [6] Aniridia is a rare condition where the iris (the coloured part of your eye) has not formed properly, so it may be missing or underdeveloped.
- [9] Aniridia is a rare genetic eye disorder characterized by the complete or partial absence of the iris. The Greek term for "without iris," ...
Additional Characteristics
- Sensitivity to light
- Eye pain or discomfort
- Underdevelopment or complete absence of the iris
- Vision problems or blindness
- Abnormal pupil shape or size
- Rare genetic eye disorder characterized by the complete or partial absence of the iris
- Rare congenital condition characterized by abnormal development of the iris
- Iris is the circular, colored part in the middle of the eye
- Rarity: 1 in 64,000 births
Signs and Symptoms
Aniridia is a rare genetic eye disorder characterized by the complete or partial absence of the iris, which can lead to various signs and symptoms.
Visual Impairment: In some cases, aniridia can cause reduction in visual acuity, making it difficult for individuals to see clearly. This can range from slight to extreme underdevelopment of the iris, depending on the severity of the condition [1][4].
Photophobia: People with aniridia often experience increased sensitivity to light (photophobia), which can be uncomfortable and affect their daily activities [4][5]. The severity of photophobia is related to the extent of aniridia.
Nystagmus: Infants with aniridia may exhibit signs of nystagmus, a rhythmic shaking or wobbling of the eyes, due to the underdevelopment of the iris [1].
Genitourinary Problems and Intellectual Disabilities: In some cases, aniridia can occur along with other symptoms, such as Wilms tumor (a kidney tumor), genitourinary problems, and intellectual disabilities. This combination is known as WAGR syndrome [2].
Glaucoma and Loss of Corneal Transparency: Aniridia can also lead to glaucoma and loss of corneal transparency, which can further compromise vision [9].
Lack of Development of the Optic Nerve and Macula: The condition can cause a lack of development of the optic nerve and macula, leading to poor vision and other visual impairments [5][9].
It's essential to note that aniridia can be diagnosed at birth or later in life, depending on the severity of the symptoms. If you suspect someone has aniridia, it's crucial to consult with a medical professional for proper diagnosis and treatment.
References: [1] - Context result 1 [2] - Context result 2 [4] - Context result 4 [5] - Context result 5 [9] - Context result 9
Additional Symptoms
- Visual Impairment
- Genitourinary Problems and Intellectual Disabilities
- Glaucoma and Loss of Corneal Transparency
- Lack of Development of the Optic Nerve and Macula
- photophobia
- nystagmus
Diagnostic Tests
Aniridia, a rare genetic disorder characterized by the underdevelopment or absence of the iris in one or both eyes, can be diagnosed through various diagnostic tests.
Clinical Examination A thorough clinical examination is essential for diagnosing aniridia. A healthcare provider will perform a physical examination to assess the extent of iris development and look for any other associated eye abnormalities [7].
Genetic Testing Genetic testing plays a crucial role in confirming the diagnosis of aniridia. This involves analyzing the PAX6 gene, which is responsible for the development of the iris. Genetic tests can also help identify other genetic disorders that may be associated with aniridia, such as WAGR syndrome [3].
Imaging Studies Various imaging studies can aid in diagnosing aniridia and assessing its severity. These include:
- Slit lamp examination: This is a non-invasive test that uses a special microscope to examine the eyes [9].
- Fundoscopy: This test involves examining the retina and optic nerve using a specialized instrument [4].
- Optical coherence tomography (OCT): OCT is a non-invasive imaging technique that provides detailed images of the eye's internal structures [9].
- High-frequency ultrasound biomicroscopy: This test uses high-frequency sound waves to create detailed images of the eye's internal structures [9].
- Iris fluorescein angiography: This test involves injecting a fluorescent dye into the bloodstream, which highlights the blood vessels in the iris and helps diagnose any abnormalities [9 transplant].
Molecular Genetics Tests Several molecular genetics tests can be performed to confirm the diagnosis of aniridia. These include:
- Deletion/duplication analysis
- Detection of homozygosity
- Sequence analysis of select exons
- Targeted variant analysis
These tests help identify genetic mutations that may be associated with aniridia [8].
In summary, diagnosing aniridia requires a combination of clinical examination, genetic testing, and imaging studies. A thorough evaluation by a healthcare provider is essential to confirm the diagnosis and assess the severity of the condition.
References: [1] Isolated aniridia. Two-thirds of patients with isolated aniridia have a positive family history. [2] Diagnosis and Tests. [3] Prenatal testing is indicated in pregnancies with risk of isolated aniridia, WAGR syndrome caused by a cytogenetic deletion and by a cryptic deletion. [4] Apr 6, 2023 — The diagnosis of aniridia is made by clinical findings and genetic tests including the following : Evaluation of anterior and posterior ... [5] Mar 20, 2024 — The eye doctor is able to diagnose this by examining your child. Genetic testing is performed to exclude WAGR syndrome and to look for genetic ... [6] Feb 14, 2024 — Aniridia is a rare condition characterized by abnormal development of the iris of the eye. [7] Clinical Examination [8] Molecular Genetics Tests [9] Imaging Studies
Additional Diagnostic Tests
- Imaging Studies
- Genetic Testing
- Molecular Genetics Tests
- Clinical Examination
Treatment
Aniridia, a rare genetic disorder characterized by the partial or complete absence of the iris, can be challenging to treat. While there are no long-term cures available, various medical and surgical interventions can help manage the condition.
Medical Interventions
- Topical antiglaucoma medications may be used initially to control glaucoma associated with aniridia [3].
- However, surgery is often required in most cases due to the severity of the condition.
- Treatment focuses on preserving and improving vision, which may include the use of an artificial iris, medication, and surgery [8].
Surgical Interventions
- Surgery is typically necessary to address glaucoma associated with aniridia.
- The goal of surgery is to reduce intraocular pressure and prevent further damage to the eye.
Emerging Treatments
- Researchers are exploring repurposed drugs for the treatment of aniridia, including amlexanox, which has shown promise in increasing levels of fully formed and functional PAX6 protein [6].
- Another study suggests that adrenergic agonists, beta-blockers, sympathomimetics, prostaglandin analogs, and carbonic anhydrase inhibitors may also be effective in treating aniridia-related glaucoma [7].
Current Challenges
- Despite medical and surgical interventions, there are currently no long-term treatments or cures available for aniridia [4].
- Treatment is focused on preserving and improving vision, which can be a significant challenge due to the complexity of the condition.
It's essential to note that treatment plans may vary depending on individual cases and the severity of symptoms. A comprehensive evaluation by an eye care professional is necessary to determine the best course of action for managing aniridia-related complications.
Recommended Medications
- carbonic anhydrase inhibitors
- beta-blockers
- sympathomimetics
- adrenergic agonists
- Topical antiglaucoma medications
- amlexanox
- prostaglandin
💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.
Differential Diagnosis
Aniridia, a rare congenital disorder characterized by the partial or complete absence of the iris, can be challenging to diagnose due to its rarity and variability in presentation. However, several conditions can be considered as differential diagnoses for aniridia.
- Congenital Cataract: A condition where the lens in the eye is cloudy or opaque at birth, which can be associated with aniridia.
- Congenital Nystagmus: An involuntary movement of the eyes that can be present from birth and may be associated with aniridia.
- Ectopia Lentis: A condition where the lens in the eye is dislocated, which can be associated with aniridia.
- Iris Coloboma: A congenital defect in the iris where there is a hole or gap in the tissue, which can be confused with aniridia.
- Axenfeld-Rieger syndrome: A rare genetic disorder that affects the development of the anterior segment of the eye, including the iris, and can be associated with aniridia.
- Peters anomaly: A congenital defect in the cornea and lens of the eye, which can be associated with aniridia.
It's essential to note that a thorough examination by an ophthalmologist or pediatrician is necessary to rule out these conditions and confirm the diagnosis of aniridia. Genetic studies may also be performed to determine the underlying cause of the condition.
References:
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11 in the search results: Clinical diagnosis.
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12 in the search results: Genetic studies in aniridia.
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14 in the search results: Aniridia is a rare congenital disorder in which there is a variable degree of hypoplasia or the absence of iris tissue associated with multiple other ocular abnormalities.
Additional Differential Diagnoses
- Ectopia Lentis
- Congenital Cataract
- Iris Coloboma
- Peters anomaly
- Axenfeld-Rieger syndrome
- congenital nystagmus
- iridogoniodysgenesis syndrome
- isolated microphthalmia 2
- anterior segment dysgenesis 2
- anterior segment dysgenesis 4
- anterior segment dysgenesis 5
- anterior segment dysgenesis 8
- nanophthalmos
- cataract 32 multiple types
- cataract 21 multiple types
- Leber congenital amaurosis 3
Additional Information
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