buphthalmos

What is Buphthalmos?

Buphthalmos, also known as buphthalmia, is a medical condition characterized by the enlargement of the eyeball, typically seen in infants and young children. This condition is often associated with congenital glaucoma, which is a disorder caused by elevated pressures within the eye.

Key Features:

• Enlargement of the eyeball
• Most commonly appears in newborns or within the first 3 months of life
• Usually indicates the presence of congenital (infantile) glaucoma

Causes and Associations:

• Congenital glaucoma is the primary cause of buphthalmos
• Other conditions such as neurofibromatosis, aniridia, and Sturge-Weber syndrome can also lead to buphthalmos or a similar appearance.

Symptoms and Diagnosis:

• The most common sign of buphthalmos is an eye that is too large
• A baby's eye typically has a diameter of 10-11.5 millimeters (mm) by age 1; an eye with a diameter of 12 mm or more before age 1 may indicate an issue.

References:

[2] Buphthalmos is most commonly seen in infants and young children, and it usually appears in the newborn period or the first 3 months of life. [3] [4] Buphthalmos due to congenital glaucoma may be unilateral. [5] The condition requires prompt review and management by senior paediatricians and ophthalmologists. [14] The most common sign that someone has buphthalmos is an eye that is too large.

Visible Sign of Buphthalmos

The most visible sign of buphthalmos is having large eyeballs when you're an infant. Either one or both of your eyes might be big, typically with a diameter of 12 millimeters or more before the age of 1 [11]. This is often the first indication that something is amiss.

Other Possible Symptoms

Depending on what's causing the buphthalmos, you may have other symptoms, including:

• Eyes that water, tear up, or become irritated easily
• Corneal elongation, thinning, and potential fractures
• Eye blinking or twitching

It's essential to note that these symptoms can vary in severity and may not be present in all cases of buphthalmos [12].

Important Considerations

Buphthalmos is usually not seen in glaucoma with onset after the age of 3 years. However, if you're experiencing any of these symptoms or have concerns about your eye health, it's crucial to consult a healthcare professional for proper evaluation and treatment [4].

Diagnostic Tests for Buphthalmos

Buphthalmos, also known as congenital glaucoma, requires accurate and timely diagnosis to prevent vision loss and other complications. The following diagnostic tests are commonly used to diagnose buphthalmos:

• Clinical Examination: A thorough clinical examination, including a detailed patient history and assessment of symptoms, is the first step in diagnosing buphthalmos [5]. Key aspects to examine include:
  • High eye pressure (IOP)
  • Increased length of the eye
  • Corneal clouding or opacification
• Tonometry: Tonometry measures the intraocular pressure (IOP) and can provide a definitive diagnosis of buphthalmos [2]. However, it may not be possible to differentiate between exophthalmos and buphthalmos without additional instrumentation.
• Ocular Ultrasound: Ocular ultrasound is useful for measuring the diameter of the normal and affected eye, which can help diagnose buphthalmos [7].
• Advanced Imaging: Advanced imaging techniques such as CT or MRI may yield additional diagnostic information regarding exophthalmos, but are not typically used to diagnose buphthalmos.
• Examination under Anesthesia: Examination under anesthesia is often necessary to perform a thorough eye exam and measure the corneal diameter using calipers [11]. A corneal diameter greater than 12 mm is considered abnormal.

Early Diagnosis is Critical

Early diagnosis of buphthalmos is critical for managing the condition effectively. Delayed diagnosis can lead to vision loss, corneal damage, and other complications. Therefore, it is essential to perform a thorough clinical examination and use additional diagnostic tests as needed to confirm the diagnosis [5].

References:

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Treatment Options for Buphthalmos

Buphthalmos, also known as congenital glaucoma, requires prompt medical attention to prevent vision loss and complications. While surgical treatment is often the most definitive approach, drug treatment can be used in conjunction with surgery or as a standalone option to manage the condition.

Medical Management

According to various sources [1], [4], [7], medical management is indicated to control intraocular pressure (IOP) to clear the cornea for surgery. This may involve the use of pressure-lowering medication, such as eye drops or oral medications, to reduce IOP and prevent further damage.

Pressure-Lowering Medication

The goal of glaucoma treatment is to lower the pressure to keep it within a normal range [2]. Pressure-lowering medication can be used to achieve this goal. However, it's essential to note that medical management alone may not be sufficient to treat buphthalmos, and surgical intervention may still be necessary.

Surgical Treatment

The most definitive treatment of buphthalmos is surgical [11], [13]. Surgical options include goniotomy, trabeculotomy, and angle filtration surgery. These procedures aim to improve drainage of the aqueous humor and reduce IOP.

Combination Therapy

In some cases, a combination of medical management and surgical treatment may be necessary to effectively manage buphthalmos [4], [7]. This approach can help control IOP and prevent further damage while also addressing any underlying conditions contributing to the condition.

It's essential to consult with an eye care professional for proper diagnosis and treatment. They will determine the best course of action based on individual circumstances.

References:

[1] - Context result 4 [2] - Context result 3 [4] - Context result 11 [7] - Context result 7

Differential Diagnosis of Buphthalmos

Buphthalmos, a condition characterized by enlarged eyeballs due to increased intraocular pressure (glaucoma), can be challenging to diagnose accurately. Several conditions can mimic the appearance of buphthalmos, making differential diagnosis crucial.

• Congenital Glaucoma: This is the most common cause of buphthalmos in infants and young children. It occurs when the drainage system of the eye does not develop properly, leading to increased intraocular pressure.
• Exophthalmos: Also known as proptosis, this condition involves the protrusion of the eyeball from the orbit due to various reasons such as thyroid disorders or tumors.
• Retinoblastoma: A rare form of eye cancer that can cause uniform or focal enlargement of the eye, which may be mistaken for buphthalmos.
• Anterior Segment Dysgenesis: A group of congenital anomalies affecting the front part of the eye, including the iris and cornea, which can lead to increased intraocular pressure and enlarged eyeballs.

Key Points to Consider

When differentiating between these conditions, clinicians should consider the following factors:

• The uniform or focal enlargement of the eye
• The presence of any underlying ocular masses such as retinoblastoma
• Imaging studies to exclude other causes of eye enlargement

References

[1] Some diagnostic procedures (eg, ultrasonography, tonometry) may provide a definitive diagnosis; although, exophthalmos and buphthalmos can often be differentiated during examination without additional instrumentation. Clinicians should consider the following questions when differentiating between exophthalmos and buphthalmos (ie, glaucoma).

[2] Goniotomy treatment is a procedure where a small opening is made in the drainage system to help fluid flow out of the eye better.

[3] Imaging is helpful in excluding an underlying ocular mass such as retinoblastoma.

[4] Buphthalmos is a descriptive term which simply means an enlarged eyeball or ocular globe due to increased intraocular pressure (glaucoma), without deformation.