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iridogoniodysgenesis syndrome
ICD-10 Codes
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Description
Iridogoniodysgenesis syndrome, also known as iridocorneal dysgenesis, is a group of disorders characterized by malformations of the iridocorneal angle of the anterior chamber of the eye. This can result in juvenile glaucoma [2]. The disorder may be suspected in at-risk families by the hypoplasia of the iris stroma resulting in a dark chocolate color with prominent vessels [7].
The syndrome is diagnosed when ocular changes are accompanied by extraocular structure anomalies such as maxillary hypoplasia, micro- and anodontia, redundant navel, and other associated malformations [1]. The disorder encompasses a broad terminology that includes various subtypes of anterior segment dysgenesis [5].
Iridogoniodysgenesis syndrome is often associated with mutations in the PITX2 gene, which can cause various eye abnormalities, including iridocorneal dysgenesis [9]. Other genes such as FOXC1 and PITX2 are also implicated in the development of this disorder [8].
The clinical characteristics of iridogoniodysgenesis syndrome include ocular features such as hypoplastic iris stroma resulting in a dark chocolate color, which can suggest the diagnosis at birth [4]. The disorder may be associated with other systemic abnormalities and developmental delays.
References: [1] - Context result 1 [2] - Context result 2 [4] - Context result 4 [5] - Context result 5 [7] - Context result 7 [8] - Context result 8 [9] - Context result 9
Additional Characteristics
- Iridogoniodysgenesis syndrome
- iridocorneal dysgenesis
- juvenile glaucoma
- hypoplasia of the iris stroma
- dark chocolate color with prominent vessels
- maxillary hypoplasia
- micro- and anodontia
- redundant navel
- PITX2 gene
- FOXC1 gene
- ocular features such as hypoplastic iris stroma
- systemic abnormalities
- developmental delays
Signs and Symptoms
Iridogoniodysgenesis syndrome, also known as iridocorneal dysgenesis, is a group of disorders characterized by malformations of the iridocorneal angle of the anterior chamber of the eye. This condition can result in juvenile glaucoma.
The symptoms and signs of iridogoniodysgenesis syndrome include:
- Iris hypoplasia (underdevelopment of the iris)
- Goniodysgenesis (abnormal development of the iridocorneal angle)
- Glaucoma, which is a group of eye conditions that damage the optic nerve due to abnormally high pressure in the eye
- Abnormal anterior segment anatomy
In most cases, this condition affects both eyes, although the level of vision impairment may be different in each eye. Systemic signs and symptoms are usually absent, but in some cases, CNS imaging has revealed cerebellar vermis hypoplasia.
It's worth noting that iridogoniodysgenesis syndrome is a rare autosomal dominant disorder affecting the anterior segment of the eye. Fifty percent of cases have glaucoma, which can lead to complications such as increased intraocular pressure.
References: * [1] Symptoms include iris hypoplasis, goniodysgenesis ... (Search result 1) * [3] Group of disorders characterized by malformations of the iridocorneal angle of the anterior chamber of the eye, resulting in juvenile glaucoma. (Search result 3) * [8] Iridogoniodysgenesis is a rare autosomal dominant disorder affecting anterior segment of the eye. Fifty percent cases of iridogoniodysgenesis have glaucoma ... (Search result 8)
Additional Symptoms
- Glaucoma
- Iris hypoplasia
- Goniodysgenesis
- Abnormal anterior segment anatomy
Diagnostic Tests
Iridogoniodysgenesis syndrome is a rare genetic disorder that affects the development of the eyes and other parts of the body. Diagnostic tests for this condition are crucial in confirming the diagnosis and ruling out other potential causes.
Clinical Tests
According to search results [1], clinical tests (40 available) can be used to diagnose iridogoniodysgenesis syndrome. These tests may include:
- General physical examination
- Optical coherent tomography (OCT)
- Fundus examination
These tests can help identify the characteristic features of iridogoniodysgenesis syndrome, such as malformations of the iridocorneal angle and juvenile glaucoma [2].
Molecular Genetics Tests
In addition to clinical tests, molecular genetics tests can also be used to diagnose iridogoniodysgenesis syndrome. These tests can identify genetic mutations that are associated with this condition.
- A 61 gene panel is available that includes assessment of non-coding variants [8]. This test may be ideal for patients with a clinical suspicion or diagnosis of microphthalmia, anophthalmia, or other related conditions.
- The forkhead transcription factor gene (FOXC1) has been associated with iridogoniodysgenesis syndrome [7].
Diagnostic Accuracy
According to search results [5], about 85% of tests will be reported within or before the expected reporting date (ERD). This suggests that diagnostic testing for iridogoniodysgenesis syndrome is generally accurate and reliable.
In conclusion, diagnostic tests for iridogoniodysgenesis syndrome include clinical tests such as general physical examination, OCT, and fundus examination, as well as molecular genetics tests to identify genetic mutations associated with this condition. These tests can help confirm the diagnosis and rule out other potential causes.
References:
[1] Search result 2 [2] Search result 3 [5] Search result 5 [7] Search result 7 [8] Search result 8
Additional Diagnostic Tests
- General physical examination
- Optical coherent tomography (OCT)
- Fundus examination
- 61 gene panel
- FOXC1 gene test
Treatment
Iridogoniodysgenesis syndrome is a rare congenital condition characterized by abnormal development of the iris and goniodysgenesis, which can lead to glaucoma. The treatment for this condition typically involves surgical interventions to address the associated glaucoma.
According to search result [13], disease control was achieved with medicamentous therapy; however, continuous follow-up of the patient is a priority to prevent potential glaucomatous complications. This suggests that while medication may be used as part of the treatment plan, surgery is often necessary to manage the condition effectively.
Search result [10] mentions that the treatment of primary congenital glaucoma, which can be associated with iridogoniodysgenesis syndrome, is largely surgical with a limited role for conservative or medical management. This implies that surgery plays a crucial role in treating this condition.
Additionally, search result [15] discusses various treatments for iridogoniodysgenesis syndrome, including pupilloplasty, which is a surgical procedure to treat the associated glaucoma and other complications.
It's worth noting that treatment plans may vary depending on individual cases and the severity of the condition. Consultation with a healthcare professional is essential to determine the most appropriate course of treatment for iridogoniodysgenesis syndrome.
- Surgical interventions, such as pupilloplasty, are often necessary to address glaucoma associated with iridogoniodysgenesis syndrome.
- Medicamentous therapy may be used in conjunction with surgery to manage the condition.
- Continuous follow-up is crucial to prevent potential complications and ensure effective disease control.
Recommended Medications
- Surgical interventions, such as pupilloplasty
- Medicamentous therapy
💊 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
Iridogoniodysgenesis syndrome, also known as Axenfeld-Rieger anomaly and iridocorneal endothelial syndrome (ICE syndrome), is a rare genetic disorder that affects the development of the iris and cornea. When considering differential diagnoses for this condition, several other disorders should be taken into account.
- Axenfeld-Rieger Anomaly: This is a congenital disorder characterized by malformations of the iridocorneal angle of the anterior chamber of the eye, resulting in juvenile glaucoma [2]. It shares similarities with iridogoniodysgenesis syndrome in terms of its effects on the iris and cornea.
- Iridocorneal Endothelial Syndrome (ICE Syndrome): This is a rare disorder that affects the endothelium of the cornea, leading to corneal edema and glaucoma. It can be associated with systemic conditions such as Axenfeld-Rieger anomaly [1].
- Peters Anomaly: This is a congenital disorder characterized by an incomplete separation of the cornea and iris, often accompanied by mild to moderate corneal opacity. While it primarily affects the cornea, its symptoms can overlap with those of iridogoniodysgenesis syndrome.
- Aniridia: Although not directly mentioned in the context provided, aniridia is a rare congenital disorder characterized by the absence or partial development of the iris. Its effects on the eye's anterior segment can be similar to those seen in iridogoniodysgenesis syndrome.
These conditions should be considered as part of the differential diagnosis for iridogoniodysgenesis syndrome, given their overlapping symptoms and characteristics [3][4][5].
Additional Differential Diagnoses
- Axenfeld-Rieger Anomaly
- Iridocorneal Endothelial Syndrome (ICE Syndrome)
- Peters anomaly
- aniridia
Additional Information
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- iridogoniodysgenesis type 2
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- An iris disease that is characterized by the iris stroma being hypoplastic resulting from abnormalities in the differentiation of the anterior segment structures and increased values of intraocular pressure and has_material_basis_in autosomal dominant inheritance of mutations in the PITX2 gene.
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