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Primary congenital glaucoma

From Wikipedia, the free encyclopedia

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.[1][2]

Primary congenital gluccoma
Other names"trabeculodysgenesis", "goniodysgenesis". "childhood glaucoma"
SpecialtyOphthalmology
SymptomsBuphthalmos. Photophobia, Epiphora
CausesDevelopmental anomalies in the eye's drainage system

History

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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.[3]

Causes and Symptoms

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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.[4][5] Common symptoms of primary congenital glaucoma include.[6]

Diagnosis

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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.[7]

References

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  1. ^ "The Unique and Delicate Practice of Treating Children With Primary Congenital Glaucoma". American Academy of Ophthalmology. 2024-09-01. Retrieved 2024-10-14.
  2. ^ Oxford Academic - Human Molecular Genetics. "Primary congenital and developmental glaucomas."
  3. ^ "New Genetic Mutation Behind Childhood Glaucoma Identified". Harvard Medical School. 30 November 2022.
  4. ^ "New genetic mutation behind childhood glaucoma identified". ScienceDaily. Retrieved 2024-10-14.
  5. ^ Kumar, Anika; Han, Ying; Oatts, Julius T. (2024-02-22). "Genetic changes and testing associated with childhood glaucoma: A systematic review". PLoS One. 19 (2): e0298883. doi:10.1371/journal.pone.0298883. ISSN 1932-6203. PMC 10883561. PMID 38386645.
  6. ^ Saling, Joseph. "Primary Congenital Glaucoma: What Is It and How Did My Child Get It?". WebMD. Retrieved 2024-10-15.
  7. ^ "Congenital Glaucoma". Cleveland Clinic. 10 August 2024.