Glaucoma, primary infantile type 3B

Glaucoma, primary infantile type 3B
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Synonyms	N/A
Pronounce	N/A
Specialty	N/A
Symptoms	Photophobia, epiphora, blepharospasm, corneal edema
Complications	N/A
Onset	Infancy
Duration	N/A
Types	N/A
Causes	Genetic mutations
Risks	N/A
Diagnosis	Ophthalmic examination, genetic testing
Differential diagnosis	N/A
Prevention	N/A
Treatment	Surgical intervention, medication
Medication	N/A
Prognosis	Variable
Frequency	N/A
Deaths	N/A

Glaucoma, primary infantile type 3B is a rare genetic disorder characterized by increased intraocular pressure (IOP) in infants, leading to potential damage to the optic nerve and loss of vision. This condition is a subtype of primary congenital glaucoma and is typically diagnosed within the first year of life.

Pathophysiology

The pathophysiology of primary infantile glaucoma type 3B involves developmental abnormalities in the anterior chamber angle of the eye, which impede the normal outflow of aqueous humor. This results in elevated intraocular pressure, which can damage the optic nerve and lead to vision loss if untreated. Genetic mutations, particularly in the CYP1B1 gene, have been implicated in this condition.

Clinical Presentation

Infants with primary infantile glaucoma type 3B often present with classic symptoms such as:

• Photophobia (sensitivity to light)
• Epiphora (excessive tearing)
• Blepharospasm (involuntary tight closure of the eyelids)
• Corneal edema (cloudy cornea)

These symptoms are due to the increased intraocular pressure and its effects on the eye structures.

Diagnosis

Diagnosis of primary infantile glaucoma type 3B is primarily clinical, based on the presence of symptoms and signs such as buphthalmos (enlarged eye), corneal clouding, and increased IOP. Confirmation is often achieved through:

• Comprehensive ophthalmic examination
• Tonometry to measure intraocular pressure
• Gonioscopy to examine the anterior chamber angle
• Genetic testing to identify mutations in the CYP1B1 gene

Treatment

The mainstay of treatment for primary infantile glaucoma type 3B is surgical intervention to reduce intraocular pressure and prevent optic nerve damage. Common surgical procedures include:

• Trabeculotomy
• Goniotomy
• Trabeculectomy

In some cases, medications such as topical beta-blockers or carbonic anhydrase inhibitors may be used to manage IOP.

Prognosis

The prognosis for infants with primary infantile glaucoma type 3B varies depending on the severity of the condition and the success of surgical interventions. Early diagnosis and treatment are crucial for preserving vision and preventing irreversible optic nerve damage.

Also see

• Primary congenital glaucoma
• CYP1B1
• Ophthalmology
• Optic nerve