Buphthalmos

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Buphthalmos
Autosomal recessive - en.svg

This condition is inherited in an autosomal recessive manner[1]

DiseasesDB = 1778
Classification and external resources
Specialty medical genetics
ICD-10 Q15.0
ICD-9-CM 743.2
OMIM 231300
MeSH D006871

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.

Signs and symptoms[edit]

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, one can detect increased intraocular pressure, distortion of the optic disc, and corneal edema, which manifests as haziness.

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

Cause[edit]

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] Measurement of corneal diameter if greater than 11mm before the age of one year or corneal diameter greater than 13mm at any age is a diagnostic criteria for buphthalmos

Prognosis and treatment[edit]

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

Etymology[edit]

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

Popular culture[edit]

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]

References[edit]

  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 months 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