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anterior segment dysgenesis
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Description
Anterior Segment Dysgenesis (ASD) Description
Anterior segment dysgenesis, also known as ASD, refers to a spectrum of developmental disorders that affect the anterior segment of the eye [2]. This condition is characterized by maldevelopment or abnormal formation of the cornea, iris, and lens [3].
The anterior segment of the eye includes structures such as the cornea, iris, anterior chamber, iridicorneal angle, and ciliary body. In ASD, one or more of these structures may be affected, leading to various eye conditions [6]. The exact mechanisms underlying this condition remain unclear, but it is believed to be caused by genetic mutations or environmental factors during fetal development [5].
ASD can manifest in different ways, ranging from mild to severe forms. Some common symptoms include corneal lesions, congenital glaucoma, and cataracts [9]. In severe cases, ASD can lead to blindness in children [5].
The term "anterior segment dysgenesis" is an umbrella term that describes a range of eye conditions caused by malformation of the anterior segment structures. It encompasses various developmental disorders, including but not limited to, Peters anomaly, congenital glaucoma, and corneal opacities [4].
Overall, ASD is a complex condition that requires careful diagnosis and management by eye care professionals.
References:
[1] Not provided (context description)
[2] Nov 30, 2020 — Anterior segment dysgenesis (ASD) is an umbrella term which describes a spectrum of disorders originating from maldevelopment of the anterior segment.
[3] by LM Reis · 2011 · Cited by 178 — Anterior segment dysgenesis (ASD) disorders encompass a wide variety of developmental conditions affecting the cornea, iris, and lens. Congenital anomalies ...
[4] Nov 30, 2020 — ASD is an umbrella term that describes eye conditions that are caused by malformation of any of the above structures, which are mostly due to ...
[5] Anterior segment dysgenesis is a severe developmental eye disorder that leads to blindness in children. The exact mechanisms underlying this condition remain ...
[6] by E Bolton · 2024 · Cited by 1 — Anterior segment dysgeneses are congenital ocular anomalies that involve the cornea, iris, anterior chamber, iridicorneal angle structures, and ciliary body.
[7] by JC Sowden · 2007 · Cited by 194 — Anterior segment dysgenesis (ASD) is a failure of the normal development of the tissues of the anterior segment of the eye.
[8] by DB Gould · 2002 · Cited by 202 — ANTERIOR SEGMENT DYSGENESIS (ASD) IS A SPECTRUM OF DISORDERS. In various conditions involving anterior segment dysgenesis, multiple tissues are affected. These ...
[9] Dysgenesis of Anterior Segment refers to abnormalities in the structure of the front part of the eye, leading to conditions such as corneal lesions, congenital ...
Additional Characteristics
- a spectrum of developmental disorders that affect the anterior segment of the eye
- maldevelopment or abnormal formation of the cornea, iris, and lens
- a range of eye conditions caused by malformation of the anterior segment structures
- corneal lesions, congenital glaucoma, and cataracts
- a complex condition that requires careful diagnosis and management by eye care professionals
Signs and Symptoms
Anterior Segment Dysgenesis (ASD) Signs and Symptoms
Anterior segment dysgenesis (ASD) is a developmental anomaly that affects the anterior chamber angle, leading to impaired aqueous humor outflow and increased intraocular pressure (IOP). The resultant symptoms include:
- Ocular enlargement: Also known as buphthalmos, this condition occurs due to the inability of the eye to drain excess fluid, causing it to enlarge [1].
- Corneal haze: A common sign associated with ASD, corneal haze can be caused by the abnormal development of the iris and cornea [4].
- Globe enlargement: Similar to ocular enlargement, globe enlargement is a result of increased IOP due to impaired aqueous humor outflow [7].
- Tearing: Excessive tearing can occur as a response to the discomfort and irritation caused by ASD [7].
- Photophobia: Sensitivity to light is another symptom associated with ASD, likely due to the abnormal development of the iris and cornea [7].
Additionally, individuals with ASD may also experience:
- Amblyopia (lazy eye): Due to a lack of visual stimulation, some individuals may develop amblyopia as a result of ASD [3].
- Iris hypoplasia: Underdevelopment of the iris is another sign associated with ASD [4].
It's essential to note that patients with anterior segment dysgenesis are at higher risk for glaucoma, with studies estimating up to 50% of affected individuals developing this condition [5].
Additional Symptoms
- Tearing
- Iris hypoplasia
- Amblyopia (lazy eye)
- Ocular enlargement
- Corneal haze
- Globe enlargement
- photophobia
Diagnostic Tests
Diagnostic Tests for Anterior Segment Dysgenesis
Anterior segment dysgenesis (ASD) is a spectrum of disorders characterized by maldevelopment of the anterior segment of the eye, which includes the cornea, iris, and lens. Diagnostic tests play a crucial role in identifying ASD and its associated conditions.
- Ultrasound Biomicroscopy (UBM): UBM is a non-invasive imaging technique that uses high-frequency sound waves to produce detailed images of the anterior segment. It can reveal thin or absent iris dilator muscles and persistent pupillary membrane, which are characteristic features of congenital microcoria ([1], [8]).
- Anterior Segment Optical Coherence Tomography (aOCT): aOCT is another imaging technique that uses low-coherence interferometry to produce high-resolution images of the anterior segment. It can help diagnose ASD and its associated conditions, such as glaucoma ([8]).
- Genomic Testing: Comprehensive genetic testing can identify a molecular defect in over 50% of affected individuals with ASD, including sporadic cases ([14]). Genomic testing assesses many genes in one test and is often used to diagnose heterogeneous single gene disorders.
- Imaging Studies: Other imaging studies, such as computed tomography (CT) or magnetic resonance imaging (MRI), may be used to rule out other conditions that can present with similar symptoms.
It's essential to note that the choice of diagnostic tests depends on the individual case and the clinical presentation. A thorough evaluation by an ophthalmologist or a geneticist is necessary to determine the most appropriate diagnostic approach.
References:
[1] Genomics and anterior segment dysgenesis: a review. Clin Experiment Ophthalmol. 2014;42(1):13-24.doi:10.1111/ceo.12152.
[8] by DI Paredes · 2023 · Cited by 1 — This may require ultrasound biomicroscopy (UBM) or anterior segment optical coherence tomography (aOCT). If there is not, the most probable diagnosis is primary ...
[14] Although the genetic basis of anterior segment dysgenesis is incompletely understood, studies have shown that comprehensive genetic testing can identify a molecular defect in over 50% of affected individuals, including sporadic cases.
Additional Diagnostic Tests
- Imaging Studies
- Genomic Testing
- Ultrasound Biomicroscopy (UBM)
- Anterior Segment Optical Coherence Tomography (aOCT)
Treatment
Treatment Options for Anterior Segment Dysgenesis
Anterior segment dysgenesis (ASD) is a spectrum of disorders characterized by maldevelopment of the anterior segment of the eye. While surgical interventions are often necessary to establish a clear visual axis, medical therapy can also play a crucial role in managing symptoms and preventing complications.
Medical Therapy
According to recent studies [4], topical ocular anti-hypertensives are considered the first-line treatment for ASD-related glaucoma. However, more than two-thirds of individuals may require at least one glaucoma surgery [4]. Medical management also involves perioperative oral propranolol [3] to help control intraocular pressure.
Specific Medications
While specific medications are not extensively discussed in the search results, it is clear that medical therapy is an essential component of ASD treatment. Topical ocular anti-hypertensives and oral propranolol are two examples of medications used to manage symptoms associated with ASD.
Surgical Intervention
It's worth noting that surgical intervention often plays a crucial role in treating ASD-related complications, such as glaucoma or cataracts [6][9]. However, medical therapy can help prevent these complications and improve patient outcomes.
References:
[4] E Bolton · 2024 · Cited by 1 — Topical ocular anti-hypertensives are the first-line treatment, however, more than two-thirds of individuals will require at least one glaucoma surgery [ ... ]
[3] by S Kaushik · 2022 · Cited by 12 — [53] Medical therapy involves perioperative oral propranolol[54] and ... The treatment of developmental glaucoma is surgical.[85]
[6] Oct 30, 2024 — Treatment involves surgical intervention to establish a clear visual axis with either corneal transplant or optical iridectomy. Corneal opacity ...
[9] Mitomycin C trabeculectomy and glaucoma drainage implant surgery may be required in treatment of postkeratoplasty glaucoma. These penetrating surgeries tend ...
Recommended Medications
- Topical ocular anti-hypertensives
- oral propranolol
💊 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 Dysgenesis
Anterior segment dysgenesis (ASD) is a group of non-acquired ocular anomalies associated with glaucoma, characterized by developmental abnormalities of the anterior segment of the eye. When diagnosing ASD, it's essential to consider various differential diagnoses that can present similarly.
Key Considerations:
- Age / gender / ethnicity: These factors can help narrow down potential differential diagnoses (4).
- Imaging modalities: Ultrasound biomicroscopy and anterior segment optical coherence tomography are useful in supporting clinical diagnosis (1).
Potential Differential Diagnoses:
- Axenfeld-Rieger syndrome (ARS): An autosomal dominant genetic condition characterized by anterior segment dysgenesis and systemic features (10).
- Other conditions involving anterior segment dysgenesis: Multiple tissues, including the iris, cornea, and lens, can be affected in various conditions (8).
Diagnostic Approach:
- Clinical examination: Always stand back and examine the patient as a whole to identify potential differential diagnoses.
- Imaging studies: CT scans are often considered first-line due to availability,
Additional Differential Diagnoses
- corneal staphyloma
- obsolete adhesions and disruptions of iris and ciliary body
- Other conditions involving anterior segment dysgenesis
- Axenfeld-Rieger syndrome
Additional Information
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- sclerocornea with other ocular anomalies
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- IAO_0000115
- An eye disease that is characterized by iris hypoplasia, an enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, an abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface and is located_in the anterior segment of the eye.
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