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obsolete anterior segment mesenchymal dysgenesis
ICD-10 Codes
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Description
Anterior Segment Mesenchymal Dysgenesis (ASMD): A Rare Eye Disease
Anterior segment mesenchymal dysgenesis, also known as ASMD, is a rare eye disease characterized by impaired development of the anterior segment of the eye. This condition affects the structures that are mainly of mesenchymal origin in the anterior segment of the eyeball.
Definition and Causes
ASMD is defined as an abnormal development (dysgenesis) of the anterior segment of the eye globe [5]. The exact causes of ASMD are not well understood, but it is believed to result from abnormalities of neural crest cells during embryonic development [6].
Clinical Features
The characteristic clinical features of ASMD include a central corneal opacity with a corresponding defect in the posterior stroma [7]. This condition can also be associated with other developmental anomalies and congenital cataracts.
Genetic Associations
Mutations in the human PITX3 gene have been found to cause congenital cataracts and anterior segment mesenchymal dysgenesis [8].
Other Related Conditions
ASMD is related to other conditions such as Axenfeld-Rieger syndrome (ARS), which is a congenital disease characterized by developmental abnormalities, including anterior segment dysgenesis [9].
In summary, ASMD is a rare eye disease that affects the development of the anterior segment of the eye. It is characterized by impaired development of the structures in this region and can be associated with other developmental anomalies and genetic mutations.
References: [1] (human) Gene ID: 437, discontinued on 3-Aug-2014. [2] Various anterior segment mesenchymal dysgenesis have been reported in humans and animals [3]. [4] A spectrum of developmental anomalies that affect the development of the anterior segment of the eyeball resulting from abnormalities of neural crest cells [6]. [5] Abnormal development (dysgenesis) of the anterior segment of the eye globe [5]. [7] The characteristic clinical features include a central corneal opacity with a corresponding defect in the posterior stroma, DM [7]. [8] Mutations in the human PITX3 cause congenital cataracts and anterior segment mesenchymal dysgenesis [8]. [9] Axenfeld-Rieger syndrome (ARS) is a congenital disease with a series of developmental abnormalities, including anterior segment dysgenesis and glaucoma [9].
Additional Characteristics
- Anterior segment mesenchymal dysgenesis
- Impaired development of the anterior segment of the eye
- Central corneal opacity with a corresponding defect in the posterior stroma
- Congenital cataracts
- Mutations in the human PITX3 gene
Signs and Symptoms
Signs and Symptoms of Anterior Segment Dysgenesis (ASD)
Anterior segment dysgenesis (ASD) is a severe developmental eye disorder that can lead to blindness in children. The characteristic clinical features of ASD include:
- Central corneal opacity: A central defect in the posterior stroma of the cornea, which can cause vision problems [3].
- Iris lesions: Abnormalities in the iris, such as corectopia (a condition where the iris is not properly formed) or iridocorneal adhesions [6].
- Anterior polar cataract: A type of cataract that affects the front part of the lens [6].
- Increased Intraocular Pressure (IOP): Elevated IOP can lead to glaucoma in approximately half of ASD patients [5].
- Goniodysgenesis: Abnormalities in the development of the drainage system of the eye, which can cause vision problems.
- Microspheric lens with partial cataract: A small lens with a partial cataract, which can affect vision.
- Pupillary membrane remnants: Remnants of a membrane that should have disappeared after birth, which can cause vision problems.
In addition to these specific signs and symptoms, patients with ASD may also experience:
- Foreign body sensation: A feeling of something being in the eye [9].
- Need for artificial tear substitutes: Patients may need to use artificial tears to lubricate their eyes.
- Regular or irregular astigmatism: Abnormal curvature of the cornea that can affect vision.
It's essential to note that these signs and symptoms can vary depending on the individual case, and not all patients with ASD will exhibit all of these characteristics.
Additional Symptoms
- Goniodysgenesis
- Foreign body sensation
- Iris lesions
- Anterior polar cataract
- Increased Intraocular Pressure (IOP)
- Microspheric lens with partial cataract
- Pupillary membrane remnants
- Need for artificial tear substitutes
- Regular or irregular astigmatism
- corneal opacity
Diagnostic Tests
Based on the provided context, it appears that you are looking for diagnostic tests related to anterior segment mesenchymal dysgenesis (ASMD), a rare and complex eye condition.
Diagnostic Approaches
- Ultrasound Biomicroscopy (UBM) or Anterior Segment Optical Coherence Tomography (aOCT): These imaging modalities may be required to assess the anterior segment of the eye in patients with ASMD [1][5].
- Exome/Genome Sequencing and/or Sanger Sequencing: Screening of genes involved in eye development will be performed using these techniques if there is a clinical suspicion or diagnosis of microphthalmia, anophthalmia, or anterior segment dysgenesis (ASD) [3][4].
Other Diagnostic Considerations
- Molecular Diagnostics: Genetic testing may be necessary to identify the underlying cause of ASMD. This can involve analyzing genes associated with eye development and function [6].
- Imaging Services: Various imaging services, such as X-ray, ultrasound, CT, and MRI, are available at facilities like Charlotte Radiology (CIS) and Novant Health Imaging Museum [10][12].
References
[1] DI Paredes · 2023 · Cited by 1 [3] Nov 13, 2023 [4] DI Paredes · 2023 · Cited by 1 [5] DI Paredes · 2023 · Cited by 1 [6] JC Sowden · 2007 · Cited by 194
Additional Diagnostic Tests
- Molecular Diagnostics
- Ultrasound Biomicroscopy (UBM) or Anterior Segment Optical Coherence Tomography (aOCT)
- or Sanger Sequencing
Treatment
Current Drug Treatments for Anterior Segment Mesenchymal Dysgenesis
While there are no specific treatments mentioned in the search results, we can infer that traditional methods may be used to manage symptoms. However, it's essential to note that these treatments might not directly address the underlying condition.
- Classical surgery: The cataract can be managed by classical surgery [5]. This implies that surgical interventions are available for treating related conditions.
- Yearly monitoring of ocular tonus: Regular monitoring is advised to detect any changes in eye pressure, which may require treatment [5].
- Hypertonia treatment: When hypertonia appears, it can be treated classically [5].
It's worth noting that the search results do not provide specific information on drug treatments for anterior segment mesenchymal dysgenesis. The condition is mentioned to have a lack of effective treatments in general [4]. However, this does not necessarily mean that no drugs are used at all.
Possible Implications
Given the lack of specific information on drug treatments, it's possible that:
- Traditional methods: Classical surgery and monitoring might be the primary approaches for managing symptoms.
- Limited treatment options: The condition may have limited treatment options, including no specific drug treatments available.
- Research needed: Further research is required to develop effective treatments for anterior segment mesenchymal dysgenesis.
References
[4] To date, dozens of gene variants have been found to cause anterior segment dysgenesis. However, there is still a lack of effective treatments [4]. [5] The cataract can be managed by classical surgery. Yearly monitoring of ocular tonus is advised; hypertonia is treated classically when it appears [5].
Recommended Medications
- Classical surgery
- Yearly monitoring of ocular tonus
- Hypertonia treatment
💊 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
Differential Diagnosis of Anterior Segment Mesenchymal Dysgenesis
Anterior segment mesenchymal dysgenesis (ASMD) is a rare congenital disorder affecting the development of the anterior segment of the eye. When considering differential diagnoses for ASMD, several conditions should be taken into account.
- Peters' anomaly: This condition shares similar clinical characteristics with ASMD, including corneal opacities and anterior segment abnormalities [3]. However, Peters' anomaly is typically associated with a more severe degree of corneal clouding.
- Sclerocornea: Similar to ASMD, sclerocornea involves the abnormal development of the cornea, leading to a dense, white appearance. While both conditions affect the anterior segment, sclerocornea tends to be more severe and is often associated with other systemic abnormalities [3].
- Mesenchymal dysgenesis: This condition encompasses a range of disorders affecting the development of mesodermal tissues in the eye, including the corneal endothelium and iris. While mesenchymal dysgenesis shares some similarities with ASMD, it tends to be more associated with systemic abnormalities [6].
- Anterior chamber cleavage syndrome: This rare condition involves the abnormal formation of the anterior chamber, leading to a range of ocular and systemic abnormalities. While it shares some similarities with ASMD, anterior chamber cleavage syndrome is typically associated with more severe ocular and systemic manifestations [6].
Key differences between these conditions and ASMD:
- Corneal involvement: All four conditions involve abnormalities in the cornea, but the degree of involvement varies significantly.
- Systemic associations: While all four conditions can be associated with systemic abnormalities, the nature and severity of these associations differ significantly.
- Clinical presentation: The clinical presentation of each condition is distinct, with ASMD typically presenting with anterior segment abnormalities without significant systemic manifestations.
References:
[3] Sclerocornea and Peters' anomaly are dysgenesis of the anterior segment and share several common clinical characteristics; except in Peters' anomaly, which is typically associated with a more severe degree of corneal clouding [3].
[6] The entities mesenchymal dysgenesis and anterior chamber cleavage syndrome include malformations of mesodermal tissues (corneal endothelium and iris) that can be confused with ASMD [6].
Additional Differential Diagnoses
- Mesenchymal dysgenesis
- Anterior chamber cleavage syndrome
- sclerocornea
- Peters anomaly
Additional Information
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