Buphthalmos: Symptoms, Causes, Treatment

What are the symptoms of buphthalmos?

Buphthalmos is an abnormal enlargement of the eye, often associated with congenital glaucoma. It typically occurs in infants and young children. The symptoms of buphthalmos can include:

1. Enlarged eyes: Noticeably larger than normal eyes, which is often one of the first signs.
2. Corneal clouding: The cornea (the clear front part of the eye) may appear hazy or cloudy due to edema (swelling).
3. Excessive tearing: Increased tearing or watering of the eyes, also known as epiphora.
4. Photophobia: Sensitivity to light, causing discomfort when exposed to bright lights.
5. Blepharospasm: Involuntary spasms or twitching of the eyelids.
6. Visual disturbances: Vision may be impaired, although this can be difficult to assess in very young children.
7. Increased intraocular pressure: Elevated pressure within the eye, which can be measured by an eye doctor and is a hallmark of glaucoma.
8. Eye discomfort or pain: The child may show signs of discomfort, rubbing their eyes frequently, or showing signs of eye pain.

These symptoms may vary in severity and can affect one or both eyes. If buphthalmos is suspected, it is crucial to seek prompt evaluation and treatment by an eye specialist (ophthalmologist) to prevent further damage to the eye and preserve vision.

What are the causes of buphthalmos?

Buphthalmos is most commonly associated with congenital glaucoma, a condition present at birth that leads to increased intraocular pressure (IOP) and subsequent enlargement of the eyeball. The primary causes of buphthalmos include:

1. Congenital glaucoma: The most common cause of buphthalmos, congenital glaucoma occurs when the eye’s drainage system does not develop properly, leading to increased IOP. This increased pressure causes the eye to enlarge and can lead to other complications, such as corneal clouding and optic nerve damage.
2. Genetic factors: Certain genetic mutations can predispose individuals to developing congenital glaucoma. It can be inherited in an autosomal recessive manner, meaning both parents carry a copy of the mutated gene.
3. Developmental abnormalities: Malformations or abnormalities in the eye’s drainage system during fetal development can lead to increased IOP and subsequent buphthalmos.
4. Infections: In rare cases, intrauterine infections (infections acquired before birth) such as rubella or cytomegalovirus can affect the development of the eye and lead to conditions that increase IOP.
5. Syndromic associations: Buphthalmos can be part of certain syndromes that affect multiple systems in the body. For example, it can be seen in conditions such as Sturge-Weber syndrome, which is characterized by vascular abnormalities.

While these are the primary causes, it’s essential to conduct a thorough medical evaluation to determine the specific cause of buphthalmos in each individual case. Early diagnosis and treatment are critical to managing the condition and preventing long-term damage to vision.

What is the treatment for buphthalmos?

Buphthalmos, also known as congenital glaucoma, is a rare eye condition that occurs in newborns and is characterized by increased intraocular pressure, vision loss, and eye enlargement. The treatment for buphthalmos typically involves a combination of medical and surgical interventions.

Medical Treatment:

1. Medications: Eye drops or oral medications may be prescribed to reduce intraocular pressure.
2. Laser therapy: Laser therapy may be used to reduce the pressure by creating a hole in the iris or sclera.

Surgical Treatment:

1. Trabeculotomy: This is a surgical procedure that creates a new pathway for the aqueous humor to flow out of the eye, reducing intraocular pressure.
2. Trabeculectomy: This procedure involves creating a hole in the trabecular meshwork to allow excess fluid to drain out of the eye.
3. Goniotomy: This procedure involves making a small incision in the angle of the anterior chamber to improve fluid drainage.
4. Implantation of a shunt: A shunt device may be implanted in the eye to divert excess fluid from the eye.

Other Treatments:

1. Patching: Eyelid patching may be used to reduce the amount of light entering the eye and help protect the eye from further damage.
2. Surgery for cataracts: If a cataract develops, surgical removal may be necessary.
3. Vision rehabilitation: Children with buphthalmos may require vision rehabilitation therapy to improve their visual function and adapt to their visual impairment.

Prognosis:

The prognosis for buphthalmos depends on the severity of the condition, the effectiveness of treatment, and the presence of any associated complications. Early treatment can help preserve vision and prevent further damage. However, some children with buphthalmos may experience significant vision loss or even blindness if left untreated.

It’s essential to consult with an ophthalmologist or a pediatric ophthalmologist for proper diagnosis and treatment of buphthalmos.