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Buphthalmos

AI overview

Buphthalmos is enlargement of the eyeball, most commonly seen in infants and young children, and in most cases indicates congenital (infantile) glaucoma.

Key points
  • It usually appears in the newborn period or first 3 months of life.
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    It usually appears in the newborn period or the first 3 months of life.
  • In most cases it indicates congenital infantile glaucoma.
    source quote
    in most cases indicates the presence of congenital (infantile) glaucoma
  • Congenital glaucoma involves elevated intraocular pressures causing structural eye damage and vision loss.
    source quote
    elevated pressures within the eye lead to structural eye damage and vision loss
  • Infantile glaucoma can cause buphthalmos when blocked aqueous humor outflow increases pressure and enlarges the globe.
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    this causes increased intraocular pressure and eventual enlargement of the globe (eyeball)
  • Angle closure may result from developmental eye abnormalities or abnormal structures in the vitreous.
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    Angle closure can be caused by developmental abnormalities of the eye as well as the presence of abnormal structures within the vitreous
  • Diagnostic criteria include corneal diameter thresholds.
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    Corneal diameter of greater than 11mm before the age of one year or corneal diameter greater than 13mm at any age are diagnostic criteria for buphthalmos.
Symptoms
  • Buphthalmos itself is only a clinical sign and does not cause symptoms.
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    Buphthalmos in itself is merely a clinical sign and does not generate symptoms.
  • Glaucoma patients may initially be asymptomatic.
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    Patients with glaucoma often initially have no symptoms
  • Later symptoms can include excessive tearing and photophobia.
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    excessive tearing (lacrimation) and extreme sensitivity to light ( photophobia )
  • Other findings include prominent eyeball, Haab's striae, enlarged cornea, and myopia.
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    Other symptoms include a prominent eyeball, Haab's striae tear in the Descemet's membrane of the cornea, an enlarged cornea, and myopia.
Diagnosis
  • Diagnosis is based on corneal diameter thresholds.
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    Corneal diameter of greater than 11mm before the age of one year or corneal diameter greater than 13mm at any age are diagnostic criteria for buphthalmos.
  • Ophthalmologic exam can reveal increased intraocular pressure, optic disc distortion, and corneal edema.
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    On ophthalmologic exam, a doctor can detect increased intraocular pressure, distortion of the optic disc , and corneal edema , which manifests as haziness.
  • Buphthalmos is a clinical sign rather than a symptom-generating condition.
    source quote
    Buphthalmos in itself is merely a clinical sign and does not generate symptoms.
Treatment
  • Surgical treatment is required.
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    Surgical treatment is required.
  • Used procedures include goniotomy, trabeculotomy, and trabeculectomy.
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    Presently-utilized surgical procedures include goniotomy, trabeculotomy, or trabeculectomy.
  • Goniotomy is done when the cornea is clear; trabeculotomy is done when the cornea is hazy or opaque.
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    Goniotomy (ab interno) is done when the cornea is clear while in the case of a hazy or opaque cornea, trabeculotomy (ab externo) can be done.
  • Hyperosmotic agents such as glycerine can be applied over the cornea if haziness is due to increased intraocular pressure.
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    Some hyperosmotic agents such as glycerine can be applied over the cornea if cornea haziness is due to increase in intraocular pressure(with cornea epithelial/stromal edema).
  • This can help enable immediate visualization of the anterior chamber angle.
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    This is useful in enabling immediate visualization of the anterior chamber angle.
  • Combined trabeculotomy-trabeculectomy or trabeculectomy alone may be used when other procedures are contraindicated or fail.
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    Trabeculotomy-trabeculectomy can also be done as a combined procedure or trabeculectomy alone when the other previously mentioned procedures are either contraindicated or fails.
Red flags
  • Buphthalmos often indicates congenital infantile glaucoma.
    source quote
    in most cases indicates the presence of congenital (infantile) glaucoma
  • Elevated intraocular pressure can cause structural eye damage and vision loss.
    source quote
    elevated pressures within the eye lead to structural eye damage and vision loss
  • Untreated glaucoma can result in total blindness.
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    Untreated glaucoma leads to total blindness.
Prognosis

Untreated glaucoma leads to total blindness.

AI-synthesized from the Wikipedia article “Buphthalmos”. Not medical advice. Verify source →
Buphthalmos
This condition is inherited in an autosomal recessive manner[1]
SpecialtyOphthalmology

Buphthalmos (plural: buphthalmoses) is enlargement of the eyeball and is most commonly seen in infants and young children. It is sometimes referred to as buphthalmia (plural buphthalmias).[2] It usually appears in the newborn period or the first 3 months of life.[3] and in most cases indicates the presence of congenital (infantile) glaucoma, which is a disorder in which elevated pressures within the eye lead to structural eye damage and vision loss.

A child with right eye buphthalmos, developed due to congenital glaucoma

Buphthalmos in itself is merely a clinical sign and does not generate symptoms. Patients with glaucoma often initially have no symptoms; later, they can exhibit excessive tearing (lacrimation) and extreme sensitivity to light (photophobia). On ophthalmologic exam, a doctor can detect increased intraocular pressure, distortion of the optic disc, and corneal edema, which manifests as haziness.[citation needed]

Other symptoms include a prominent eyeball, Haab's striae tear in the Descemet's membrane of the cornea, an enlarged cornea, and myopia.[citation needed]

Infantile glaucoma, which often produces the clinical sign of buphthalmos, can be caused when an abnormally narrow angle between the cornea and iris blocks the outflow of aqueous humor;[4] this causes increased intraocular pressure and eventual enlargement of the globe (eyeball). Angle closure can be caused by developmental abnormalities of the eye as well as the presence of abnormal structures within the vitreous.[5] Corneal diameter of greater than 11mm before the age of one year or corneal diameter greater than 13mm at any age are diagnostic criteria for buphthalmos.[citation needed]

Untreated glaucoma leads to total blindness. Surgical treatment is required. Presently-utilized surgical procedures include goniotomy, trabeculotomy, or trabeculectomy.[citation needed]

Goniotomy (ab interno) is done when the cornea is clear while in the case of a hazy or opaque cornea, trabeculotomy (ab externo) can be done. Some hyperosmotic agents such as glycerine can be applied over the cornea if cornea haziness is due to increase in intraocular pressure(with cornea epithelial/stromal edema). This is useful in enabling immediate visualization of the anterior chamber angle.[citation needed]

Trabeculotomy-trabeculectomy can also be done as a combined procedure or trabeculectomy alone when the other previously mentioned procedures are either contraindicated or fails.[citation needed]

The name of the condition derives from the Greek βοῦς bous (ox or cow), referring to the bulging eyes common to bovines.[citation needed]

US musical legend Ray Charles, who was totally blind by age 7, had probably been afflicted with glaucoma and may have had buphthalmos early in life.[6] The blindness of saxophonist Rahsaan Roland Kirk (1935–1977) is noted on his 1952 leaving report card from Ohio State School for the Blind as caused by bupthalmos.[7]

  1. "OMIM Entry - # 231300 - GLAUCOMA 3, PRIMARY CONGENITAL, A; GLC3A". www.omim.org. Retrieved 26 September 2017.
  2. http://www.merriam-webster.com/medical/Buphthalmos Merriam-Webster online medical dictionary
  3. Merriam-Webster: Over 80% of cases are evident by 3 years of age.
  4. The Schlemm's canal is usually collapsed (Merriam-Webster)
  5. Yanoff & Duker: Ophthalmology, 3rd ed. 2008
  6. http://www.swingmusic.net/Ray_Charles_Biography.html Swing Music website, page for Ray Charles
  7. John Kruth. 2021. Bright Moments: The Life and Legacy of Rahsaan Roland Kirk. 2nd edn. New York: Jackalope Press, 178.