hydrophthalmos

Hydrophthalmos: A Rare Congenital Glaucoma

Hydrophthalmos, also known as buphthalmos, is a rare congenital glaucoma characterized by the enlargement and distention of the fibrous coats of the eyeball. This condition occurs when there is an abnormal increase in pressure within the eye, leading to its enlargement.

Causes and Symptoms

Hydrophthalmos is caused by the failure of the tissues through which excess fluid would normally drain from the eye to develop normally. This results in increased intraocular pressure (IOP), which can cause the eye to enlarge. The symptoms of hydrophthalmos include:

• Enlargement of the eyeball
• Increased corneal diameter
• Elevated IOP
• Congenital or early infantile onset

Prognosis and Treatment

Hydrophthalmos is a serious condition that requires prompt medical attention. If left untreated, it can lead to blindness in the affected eye. The prognosis for hydrophthalmos is generally unfavorable, with a high likelihood of blindness.

Treatment typically involves surgical intervention to relieve the symptoms and reduce IOP. In most cases, hydrophthalmos also causes myopia (nearsightedness) in the patient.

References

• [1] Congenital open-angle glaucoma that results from dysgenesis of the angle structures accompanied by increased intraocular pressure and enlargement of the eye.
• [4] Hydrophthalmos is a form of glaucoma that is either present since birth (i.e. congenital) or develops in early infancy.
• [14] hydrophthalmos (redirected from Hydrophthalmia) hydrophthalmos [hi″drof-thal′mos] 1. a type of glaucoma characterized by enlargement and distention of the fibrous coats of the eyeball.
• [15] Buphthalmos (also called hydrophthalmos) refers to an enlarged eye caused by congenital or infantile glaucoma.

Signs and Symptoms of Hydrophthalmos

Hydrophthalmos, also known as buphthalmos, is a rare eye condition characterized by an abnormal enlargement of the eyeball due to increased intraocular pressure. The signs and symptoms of hydrophthalmos can vary in severity and may include:

• Abnormal accumulation of fluid: An excessive amount of aqueous humor accumulates inside the eyeball, causing it to enlarge.
• Enlarged eyeball: The eyeball is larger than normal, with a diameter of 12 millimeters or more before age 1.
• Excessive tearing and irritation: The eyes may water, tear up, or become irritated easily due to increased intraocular pressure.
• Vision loss: If left untreated, hydrophthalmos can cause damage to the optic disk, restricted visual fields, and corneal edema, ultimately leading to complete blindness.

In some cases, hydrophthalmos and glaucoma are also hereditary. The designation of the eyeball enlargement as "water eye" is due to the connection between the excessive accumulation of aqueous humor and the resulting eyeball enlargement.

Early signs in infants: A baby with an eye of 12 millimeters before age 1 indicates that there's likely an issue, especially if the other eye is in the normal range. Other early signs may include:

• Large eyeballs: Either one or both eyes might be big.
• Difficulty seeing well: Babies and toddlers with glaucoma may have trouble seeing clearly.

It's essential to seek medical attention promptly if you suspect that your child has hydrophthalmos, as prompt treatment can help prevent vision loss and other complications.

To diagnose Hydrophthalmos, several diagnostic tests are conducted to assess the condition of the eye and surrounding tissues.

• A thorough eye exam is performed by a healthcare provider to check for signs of increased intraocular pressure, such as corneal clouding or swelling [3].
• Retinoscopy is used to measure the refractive error of the eye and detect any abnormalities in the retina [6].
• Magnetic Resonance Imaging (MRI) is often used in combination with an evaluation of visual function to provide a comprehensive diagnosis [8].

Additional diagnostic tests may include:

• Complete blood cell count and chemistry profile
• Radiography
• Orbit ultrasonography
• Endoscopy of the anterior segment

These tests help healthcare providers to accurately diagnose Hydrophthalmos and develop an effective treatment plan.

References: [3] - Hydrophthalmos is a rare eye condition characterized by an abnormal enlargement of the eyeball due to increased intraocular pressure [3]. [6] - What tests will be done to diagnose buphthalmos? · A thorough eye exam: The provider will be able to see if your cornea is cloudy, torn or swollen. · Retinoscopy: ... [6] [8] - The result of an MRI (magnetic resonance imaging) in combination with an evaluation of how the child is functioning visually, provide the basis for diagnosis [8].

Treatment Options for Hydrophthalmos

Hydrophthalmos, also known as buphthalmos, is a rare congenital condition characterized by the enlargement of one or both eyes due to increased intraocular pressure. The treatment for hydrophthalmos typically involves a combination of medical and surgical interventions.

• Medical Treatment: In most cases, drug treatment is usually sufficient to reverse the enlargement of one or both eyes. Medications such as timolol (cited in [2]) and other anti-glaucoma medications can help reduce intraocular pressure and prevent further eye damage.
• Surgical Interventions: However, since small children are sometimes sensitive to medicines, parents should pay close attention to any side effects and interactions (cited in [12]). In some cases, surgical interventions may be necessary to correct the condition. These include:
  • Goniotomy: a procedure where a small opening is made in the drainage system to help fluid flow out of the eye better (cited in [14]).
  • Tube shunt treatment: uses a flexible tube to help fluid drain out of the eye.
  • Selective laser trabeculoplasty: when a laser treats the eye's drainage angle to enable fluid to flow more freely through it.
  • Trabeculectomy: involves surgically creating a new drainage channel in the eye.

It is essential to note that treatment for hydrophthalmos should be individualized and may involve a combination of medical and surgical interventions. Early diagnosis and proper management can help prevent long-term complications, including blindness (cited in [12]).

References:

[2] Cited in search result 2: Timolol as an approved drug for treating hydrophthalmos. [12] Cited in search result 12: Drug treatment is usually sufficient to reverse the enlargement of one or both eyes. [14] Cited in search result 14: Goniotomy, tube shunt treatment, selective laser trabeculoplasty, and trabeculectomy as surgical interventions for hydrophthalmos.

Hydrophthalmos, also known as buphthalmos, refers to an enlarged eye caused by congenital or infantile glaucoma. The differential diagnosis for hydrophthalmos is crucial in distinguishing it from other conditions that may present with similar symptoms.

Key Conditions to Consider:

• Megalocornea: This condition involves an increased corneal diameter, which can be a feature of hydrophthalmos. However, megalocornea can also occur independently and does not necessarily indicate glaucoma.
• Exophthalmos: Also known as proptosis, this condition refers to the protrusion of the eyeball from the orbit. While exophthalmos can be associated with increased intraocular pressure, it is not a direct indicator of hydrophthalmos.
• Goniodysgenesis: This term describes a congenital anomaly of the iridocorneal angle, which can lead to glaucoma and subsequent enlargement of the globe.

Distinguishing Features:

• Increased Corneal Diameter: While megalocornea shares this feature with hydrophthalmos, the presence of corneal disturbances other than increased diameter may indicate a different condition.
• Globe Enlargement: Hydrophthalmos is characterized by an enlarged eye due to increased intraocular pressure. This can be distinguished from exophthalmos, which involves protrusion of the eyeball without necessarily indicating glaucoma.

Clinical Considerations:

• Age and Presentation: Hydrophthalmos typically presents in infancy or early childhood, whereas megalocornea may become apparent later in life.
• Associated Symptoms: The presence of other symptoms such as skin and neurological manifestations can indicate a different underlying condition.

In conclusion, the differential diagnosis for hydrophthalmos involves careful consideration of various conditions that may present with similar features. A thorough clinical evaluation, including assessment of age, presentation, and associated symptoms, is essential to accurately diagnose and manage this condition [3][4][6].

References:

[1] AO Khan (2011) - Primary congenital glaucoma (isolated goniodysgenesis) has classic phenotypic features such as increased measured intraocular pressure, globe enlargement.

[2] A Franceschetti (1965) - The differential diagnosis may be very difficult, especially in old cases of more or less absolute glaucoma with diffuse opacities of the cornea.

[3] NG Ziakas (2011) - In newborns with unilateral buphthalmos and presumed congenital glaucoma, the differential diagnosis should include the rare condition of ...

[4] Definition of hydrophthalmos characterized by early onset glaucoma in one or both eyes with elevated intraocular pressure, increased corneal diameter, and swelling of ...