Buphthalmos

Autosomal recessive - en

Buphthalmos is a pathological condition characterized by an enlargement of the eye's globe (eyeball), which primarily affects children. This condition is often associated with congenital glaucoma, a severe form of glaucoma that presents at birth or within the first few years of life. Buphthalmos is derived from the Greek words "bous," meaning ox, and "ophthalmos," meaning eye, reflecting the condition's hallmark sign of enlarged, ox-like eyes.

Etiology[edit | edit source]

The primary cause of buphthalmos is elevated intraocular pressure (IOP) in a child's eye, which can result from congenital glaucoma. This increase in pressure can be due to abnormalities in the eye's drainage structures, specifically the trabecular meshwork and Schlemm's canal, which are responsible for regulating the outflow of aqueous humor, a fluid produced within the eye. When the aqueous humor cannot drain properly, pressure builds within the eye, leading to enlargement and potential damage to the optic nerve.

Symptoms and Diagnosis[edit | edit source]

Symptoms of buphthalmos may include noticeable enlargement of one or both eyes, corneal haziness, excessive tearing, and sensitivity to light (photophobia). The condition is often diagnosed through a comprehensive eye examination, which may include measuring the intraocular pressure, assessing the size of the eyeball, and examining the optic nerve for signs of damage.

Treatment[edit | edit source]

The treatment of buphthalmos focuses on reducing the intraocular pressure to prevent further damage to the eye and optic nerve. This can be achieved through medications, such as topical beta-blockers, prostaglandin analogs, and carbonic anhydrase inhibitors, which help to increase the outflow of aqueous humor or decrease its production. In cases where medication is not effective, surgical interventions, such as goniotomy, trabeculotomy, or trabeculectomy, may be necessary to create a new drainage pathway for the aqueous humor.

Prognosis[edit | edit source]

The prognosis for children with buphthalmos varies depending on the age at diagnosis, the severity of the condition, and the response to treatment. Early detection and treatment are crucial for preventing or minimizing vision loss. Regular follow-up with an ophthalmologist is essential to monitor the condition and adjust treatment as needed.