Primary congenital glaucoma

Primary congenital glaucoma is a rare eye condition that is present at birth or develops early in childhood. It occurs due to improper drainage of the eye's fluids, which leads to increased pressure inside the eye, known as intraocular pressure. This elevated pressure can damage the optic nerve which will result permanent vision loss.

Primary congenital gluccoma
Other names	"trabeculodysgenesis", "goniodysgenesis". "childhood glaucoma"
Specialty	Ophthalmology
Symptoms	Buphthalmos. Photophobia, Epiphora
Causes	Developmental anomalies in the eye's drainage system

History

In the late 19th and early 20th centuries, the disease was commonly referred to by terms such as trabeculodysgenesis and goniodysgenesis, emphasizing the developmental anomalies in the eye's drainage structures. It was considered untreatable at the time, with most cases resulting in inevitable vision loss and blindness due to elevated intraocular pressure. In the early 20th century, Dr. Paul Chandler identified congenital glaucoma as a distinct medical condition. Later, Dr. Janey Wiggs, a researcher at Harvard Medical School, conducted studies identifying new genetic mutations associated with congenital glaucoma, such as the thrombospondin-1 (THBS1) gene.

Causes and Symptoms

The condition is often caused by developmental anomalies in the eye's drainage system. Genetic factors play a significant role, with several mutations identified like thrombospondin-1 that contribute to the development of congenital glaucoma. Common symptoms of primary congenital glaucoma include.

• Enlarged eyes (Buphthalmos)
• Sensitivity to light (Photophobia)
• Tearing (Epiphora)
• Cloudy cornea
• Bluish discoloration of the eyeball.

Diagnosis

It's diagnosis process typically involves an eye examination, including measurement of intraocular pressure, corneal diameter, and optic nerve assessment. Goniotomy is one surgical option, where surgeons cut into the eye's drainage angle to access the trabecular meshwork, using a gonioscope for visibility. If the drainage angle isn't clearly visible through the cornea, a trabeculotomy is performed, cutting into the sclera with an electrocautery device called a trabeculotome. If these approaches are ineffective, a trabeculectomy may be considered, removing part of the trabecular meshwork through the sclera to create a new drainage pathway. Alternatively, a glaucoma drainage device (tube shunt) may be implanted to drain fluids onto a plate beneath the conjunctiva. Early detection of this medical condition is important for prevention of vision loss.