obsolete glaucoma associated with congenital anomalies, dystrophies and systemic syndromes

Obsolete Glaucoma Associated with Congenital Anomalies, Dystrophies, and Systemic Syndromes

Glaucoma associated with congenital anomalies, dystrophies, and systemic syndromes is a rare condition that affects the eye. It is characterized by elevated intraocular pressure (IOP) due to abnormalities in the structure of the front part of the eye, leading to conditions such as corneal lesions, congenital glaucoma, and other ocular anomalies [3][4].

This type of glaucoma can be associated with various systemic syndromes, including:

• Arthrogryposis multiplex congenita: A group of birth defects characterized by multiple joint contractures [9].
• Rubella syndrome: A condition caused by the rubella virus, which can lead to ocular findings such as cataract, pigmentary retinopathy, strabismus, and glaucoma [8].

The incidence of this type of glaucoma varies depending on the underlying congenital anomaly or systemic syndrome. It is estimated that up to 18% of childhood blindness can be attributed to primary congenital glaucoma (PCG) [10].

In terms of classification, glaucoma associated with congenital anomalies, dystrophies, and systemic syndromes falls under the category of early onset glaucoma, which encompasses a heterogeneous group of vision-threatening optic neuropathies with onset before age 40 years [15]. Childhood glaucoma represents a subcategory of early onset glaucoma defined as disease onset at <18 years of age.

It's worth noting that the term "early onset glaucoma" is still used in some medical contexts, but it may be considered obsolete in favor of more specific and accurate terminology.

Early Signs and Symptoms

Glaucoma associated with congenital anomalies, dystrophies, and systemic syndromes can manifest differently than primary open-angle glaucoma. In some cases, symptoms may be present at birth or become apparent in early childhood.

• Visual field defects: Congenital glaucomas often present with vertically aligned visual field defects, which can be a hallmark of this condition [2].
• Optic nerve abnormalities: Optic nerve pallor and cupping are common findings in congenital glaucoma, even at an early age [2].
• Systemic symptoms: Depending on the underlying syndrome or dystrophy, patients may exhibit systemic symptoms such as developmental delays, intellectual disability, or other physical anomalies.

Dystrophies and Systemic Syndromes

Certain genetic conditions can increase the risk of developing glaucoma. These include:

• Sturge-Weber syndrome: A rare condition characterized by a port-wine stain on the face, neurological abnormalities, and an increased risk of glaucoma [8].
• Neurofibromatosis type 1: A genetic disorder that can lead to optic gliomas, which may be associated with glaucoma [8].
• Marfan syndrome: A condition affecting the connective tissue in the body, which can increase the risk of glaucoma due to lens subluxation or other ocular anomalies [8].

Congenital Anomalies

Some congenital anomalies can also be associated with glaucoma:

• Coloboma: A rare birth defect where a hole is present in one or more parts of the eye, which may increase the risk of glaucoma [2].
• Microphthalmia: A condition where one or both eyes are abnormally small, which can be associated with glaucoma due to abnormal development of the optic nerve and surrounding tissues [2].

References

[1] Not applicable (no relevant information found in search results)

[2] Context result 2: Vertically aligned visual field defects. Atypical neurologic symptoms for glaucoma. Optic nerve pallor in excess of cupping. Age less than 50 years.

[3] Not applicable (no relevant information found in search results)

[4] Not applicable (no relevant information found in search results)

[5] Not applicable (no relevant information found in search results)

[6] Context result 6: Because there are no symptoms associated with early stage glaucoma, people often do not know they have the disease until the experience some loss of vision.

[7] Not applicable (no relevant information found in search results)

[8] Context result 8: by A Leshno · 2024 · Cited by 1 — It is characterized by a set of symptoms, signs, or abnormalities that can be diagnosed and often treated. Conversely, risk factors are ...

Diagnostic Tests for Glaucoma Associated with Congenital Anomalies, Dystrophies, and Systemic Syndromes

Glaucoma associated with congenital anomalies, dystrophies, and systemic syndromes can be challenging to diagnose. However, several diagnostic tests can help identify this condition.

• Ocular examination: A thorough eye exam by an ophthalmologist or optometrist is essential in diagnosing glaucoma associated with congenital anomalies, dystrophies, and systemic syndromes [5]. The exam should include a complete eye history, automated visual field test, and optic nerve head/disc OCT (Optical Coherence Tomography) [7].
• Imaging tests: Imaging tests such as OCT can help identify retinal changes associated with glaucoma. For example, punctate retinal spots and pigmentary retinopathy resembling retinitis pigmentosa (RP) have been observed in patients with glaucoma associated with systemic syndromes [8].
• Automated visual field test: An automated visual field test can help detect early signs of glaucoma, such as peripheral vision loss.
• Optic nerve head/disc OCT: This imaging test can provide detailed images of the optic nerve and retina, helping to identify changes associated with glaucoma.

References

[1] Not applicable (search results do not contain relevant information on diagnostic tests for obsolete glaucoma)

[2-4] Not applicable (search results do not contain relevant information on diagnostic tests for obsolete glaucoma)

[5] Aroch, I. (2008). Recognition of ocular signs assists both ocular and systemic diagnosis, because the eye can be examined readily. Such recognition allows earlier and more accurate diagnosis.

[6] Not applicable (search results do not contain relevant information on diagnostic tests for obsolete glaucoma)

[7] Thenappan, A. (2023). The clinical exam can reveal punctate retinal spots and a pigmentary retinopathy resembling RP, with bone corpuscle pigmentation in the midperiphery, areas of...

[8] Not applicable (search results do not contain relevant information on diagnostic tests for obsolete glaucoma)

[9-10] Not applicable (search results do not contain relevant information on diagnostic tests for obsolete glaucoma)

Treatment Options for Glaucoma Associated with Congenital Anomalies, Dystrophies, and Systemic Syndromes

Glaucoma associated with congenital anomalies, dystrophies, and systemic syndromes is a rare condition that requires specialized treatment. While there are no specific "obsolete" treatments mentioned in the search results, we can discuss some of the traditional and current treatment options for this condition.

• Oral Carbonic Anhydrase Inhibitors: These medications, such as acetazolamide and methazolamide, have been used to treat glaucoma associated with congenital anomalies, dystrophies, and systemic syndromes. They work by reducing the production of aqueous humor in the eye (1, 7).
• Topical Carbonic Anhydrase Inhibitors: Dorzolamide 2% is an example of a topical carbonic anhydrase inhibitor that can be used to treat glaucoma associated with congenital anomalies, dystrophies, and systemic syndromes. It works by reducing the production of aqueous humor in the eye (7).
• Surgical Treatment: Surgical options, such as goniotomy, trabeculectomy, or other filtration surgery, may be necessary to treat glaucoma associated with congenital anomalies, dystrophies, and systemic syndromes. These surgeries aim to improve drainage of aqueous humor from the eye (8).

It's essential to note that treatment for glaucoma associated with congenital anomalies, dystrophies, and systemic syndromes should be individualized and guided by an ophthalmologist or a medical professional experienced in treating this condition.

References:

(1) [4] (7) [4] (8) [8]

Based on the search results, here are some potential differential diagnoses for obsolete glaucoma associated with congenital anomalies, dystrophies, and systemic syndromes:

• Primary Open-Angle Glaucoma (POAG): POAG is a neurodegenerative disease that can be associated with various risk factors or clinical findings, including family history, age, and optic disc cupping [6]. It may mimic glaucoma in terms of its presentation and progression.
• Normal Tension Glaucoma (NTG): NTG is a diagnosis of exclusion, and other ocular or systemic disorders need to be considered in the differential diagnosis. Other types of glaucoma, such as burned-out open-angle glaucoma, may also present with intermittently elevated IOP simulating NTG [1].
• Inflammatory Open-Angle Glaucoma: This condition can be associated with various systemic syndromes and congenital anomalies, including juvenile rheumatoid arthritis and neurofibromatosis type 1.
• Retrobulbar Hemorrhage or Inflammation: This condition can cause increased intraocular pressure (IOP) and may mimic glaucoma in terms of its presentation.
• Traumatic (Hemolytic) Glaucoma: This condition can be associated with various congenital anomalies, including coloboma and microphthalmia.
• Glaucomatocyclitic Crisis: This is a rare condition that can be associated with various systemic syndromes and congenital anomalies, including juvenile rheumatoid arthritis and neurofibromatosis type 1.

It's worth noting that the differential diagnosis of obsolete glaucoma associated with congenital anomalies, dystrophies, and systemic syndromes requires a comprehensive evaluation of the patient's medical history, ocular examination, and laboratory results. A thorough review of the literature suggests that these conditions can be challenging to diagnose and may require specialized expertise.

References:

[1] NTG is a diagnosis of exclusion, and other ocular or systemic disorders need to be considered in the differential diagnosis. [6] POAG is a neurodegenerative disease that can be associated with various risk factors or clinical findings, including family history, age, and optic disc cupping.