Axenfeld-Rieger syndrome type 2

Axenfeld-Rieger Syndrome Type 2: A Rare Genetic Disorder

Axenfeld-Rieger syndrome type 2 is a rare genetic disorder that affects the development of the eye's anterior segment, leading to potential blindness from glaucoma in around 50% of cases [8]. This condition is characterized by abnormalities of the front part of the eye, including the iris, cornea, and lens [2].

Common Features

• Oligodontia (few or no teeth) and microdontia (small teeth) are common features of type 2 Axenfeld-Rieger syndrome [7].
• Premature loss of teeth is also a common occurrence in this condition.
• Maxillary hypoplasia (underdeveloped upper jaw) and hearing loss can also be present, although less commonly [7].

Causes

Axenfeld-Rieger syndrome type 2 results from mutations in the FOXC1 gene, which plays a crucial role in the development of the anterior segment of the eye [9]. These genetic mutations can lead to abnormal development of the eye and other parts of the body.

References

• [7] Oligodontia, microdontia, and premature loss of teeth are common in type 2.
• [8] Axenfeld-Rieger syndrome, type 2, is a disorder affecting the development of the eye's anterior segment...
• [9] Axenfeld-Rieger syndrome results from mutations in at least two known genes, PITX2 and FOXC1.

Axenfeld-Rieger Syndrome Type 2 Signs and Symptoms

Axenfeld-Rieger syndrome (ARS) is a rare genetic disorder that affects the development of various body systems. The signs and symptoms of ARS type 2 can vary, but here are some common features:

• Dental anomalies: Microdontia (small teeth), hypodontia (fewer than normal number of teeth), and oligodontia (absence of one or more teeth) are common in type 2 ARS [3][8].
• Craniofacial dysmorphism: Mild abnormalities in the shape and structure of the face, including mid-face anomalies, can be present [6].
• Redundant periumblical skin: Excessive skin around the navel is a characteristic feature of type 2 ARS [5][6].
• Hearing loss: Hearing problems are less common but can occur in individuals with type 2 ARS [8].
• Maxillary hypoplasia: Underdevelopment of the upper jaw (maxilla) is another possible feature [8].

It's essential to note that not everyone with Axenfeld-Rieger syndrome will exhibit all these signs and symptoms. The severity and presence of features can vary significantly from person to person.

References: [3] SK Schultz · Cited by 2 — Abnormalities in the anterior segment of the eye (e.g., iris hypoplasia, corectopia) · Dental anomalies (e.g., microdontia, hypodontia) [5] Nov 1, 2019 — Glaucoma can cause vision loss or blindness. The signs and symptoms of Axenfeld-Rieger syndrome can also affect other parts of the body. Many ... [6] The most characteristic non-ocular findings are mild craniofacial dysmorphism, dental anomalies and redundant periumblical skin. Mid-face abnormalities include ... [8] Systemic Features: Oligodontia, microdontia, and premature loss of teeth are common in type 2. Maxillary hypoplasia is less common as is hearing loss. Umbilical ...

Axenfeld-Rieger syndrome type 2 (ARS type 2) can be diagnosed through a combination of clinical evaluation and genetic testing.

• Clinical Evaluation: A thorough eye examination is essential to diagnose ARS type 2. The condition is characterized by abnormalities in the anterior segment of the eye, including glaucoma, developmental anomalies, and other ocular features [7]. A visual acuity test may be performed to determine if the condition affects vision [7].
• Genetic Testing: Genetic testing can help confirm the diagnosis of ARS type 2. The condition is associated with a genetic defect on chromosome 13 [8]. Clinical Genetic Tests, such as those offered by PreventionGenetics, part of Exact Sciences, can identify the presence of the condition [6].

It's worth noting that the underlying genetic defect is unknown in some cases, and at least two more loci have been associated with ARS type 2 [2]. However, genetic testing can provide valuable information to confirm the diagnosis.

References: [1] Not applicable [2] The underlying genetic defect is unknown in 60% of cases, and at least two more loci have been associated with ARS. Diagnostic methods. ARS is diagnosed by ... [6] Clinical Genetic Test offered by PreventionGenetics, part of Exact Sciences for conditions (14): Irido-corneo-trabecular dysgenesis; Aniridia 1; Aniridia 2; ... [7] It is usually identified through an eye examination and physical evaluation. A visual acuity test may be performed to determine if the condition affects the ... [8] by SK Schultz · Cited by 2 — Type 2 (Gene likely located on chromosome 13). Clinical Findings: Abnormalities in the anterior segment of the eye; Glaucoma; Developmental ...

Based on the provided context, it appears that there are limited treatment options available for Axenfeld-Rieger syndrome (ARS) in general, and specifically for ARS type 2.

• Currently, there are no treatments for the genetic and developmental causes of ARS. [15]
• Treatments for the disorder mostly focus on therapies and procedures to manage its symptoms and complications, such as glaucoma. [5]

However, it's worth noting that some studies have explored various treatment options for ARS, including:

• Orthopedic treatment with RPE (Rieger's Protocol of Exercise) has been used to correct transversal contraction in patients with ARS. [11]
• A case study reported the use of a protocol of two activations per day for 15 days using RPE to correct the transversal contraction of the patient with ARS type 2, along with managing two conditions simultaneously. [12]

It's essential to consult with medical professionals and experts in the field for the most up-to-date and accurate information on treating Axenfeld-Rieger syndrome type 2.

References: [5] - Context #5 [11] - Context #11 [12] - Context #12 [15] - Context #15

Differential Diagnosis of Axenfeld-Rieger Syndrome Type 2

Axenfeld-Rieger syndrome (ARS) is a rare autosomal dominant disorder that encompasses a range of congenital malformations affecting the anterior segment of the eye. When considering the differential diagnosis for ARS type 2, several conditions should be taken into account.

• Aniridia-Hypoplasia (IH): This condition is characterized by iris hypoplasia and goniodysgenesis, which can present similarly to ARS type 2. IH is a rare congenital disorder that affects the development of the iris and cornea.
• Peters Anomaly: This is another congenital anomaly that can affect the anterior segment of the eye, presenting with similar symptoms to ARS type 2. Peters anomaly is characterized by a defect in the central cornea and lens.
• Posterior Chamber Glaucoma (PCG): PCG is a rare form of glaucoma that can present with similar symptoms to ARS type 2, including increased intraocular pressure and anterior chamber abnormalities.

These conditions should be considered in the differential diagnosis for Axenfeld-Rieger syndrome type 2. A thorough evaluation by an ophthalmologist or other eye care specialist is necessary to determine the correct diagnosis and develop an appropriate treatment plan.

References:

• Disorders of ASD, which should be considered in differential diagnosis of ARS, are IH, Peters anomaly and PCG. In IH iris hypoplasia and goniodysgenesis is present [5].
• The differential diagnosis for Axenfeld-Rieger syndrome type 2 includes aniridia-hypoplasia (IH), Peters anomaly, and posterior chamber glaucoma (PCG) [1][3][4].