Buphthalmos is a medical term that describes enlargement of the eyeball and is most commonly seen in infants and young children. It is sometimes referred to as buphthalmia (plural buphthalmias). It usually appears in the newborn period or the first 3 months of life. 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.

Etiology

Infantile glaucoma, which often produces the clinical sign of buphthalmos, can be caused when an abnormally narrow angle between the cornea

Cornea

The cornea is the transparent front part of the eye that covers the iris, pupil, and anterior chamber. Together with the lens, the cornea refracts light, with the cornea accounting for approximately two-thirds of the eye's total optical power. In humans, the refractive power of the cornea is...

 and iris

Iris (anatomy)

The iris is a thin, circular structure in the eye, responsible for controlling the diameter and size of the pupils and thus the amount of light reaching the retina. "Eye color" is the color of the iris, which can be green, blue, or brown. In some cases it can be hazel , grey, violet, or even pink...

 blocks the outflow of aqueous humor; this causes increased intraocular pressure

Intraocular pressure

Intraocular pressure is the fluid pressure inside the eye. Tonometry is the method eye care professionals use to determine this. IOP is an important aspect in the evaluation of patients at risk from glaucoma...

 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.

Symptoms

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

Tearing

Tearing is the act of breaking apart a material by force, without the aid of a cutting tool. A tear in a piece of paper, fabric, or some other similar object may be the result of the intentional effort with one's bare hands, or be accidental...

 and extreme sensitivity to light (photophobia

Photophobia

Photophobia is a symptom of abnormal intolerance to visual perception of light. As a medical symptom photophobia is not a morbid fear or phobia, but an experience of discomfort or pain to the eyes due to light exposure or by presence of actual physical photosensitivity of the eyes, though the term...

). On ophthalmologic exam, one can detect increased intraocular pressure, distortion of the optic disc

Optic disc

The optic disc or optic nerve head is the location where ganglion cell axons exit the eye to form the optic nerve. There are no light sensitive rods or cones to respond to a light stimulus at this point. This causes a break in the visual field called "the blind spot" or the "physiological blind spot"...

, and corneal edema

Edema

Edema or oedema ; both words from the Greek , oídēma "swelling"), formerly known as dropsy or hydropsy, is an abnormal accumulation of fluid beneath the skin or in one or more cavities of the body that produces swelling...

, which manifests as haziness.

Prognosis and treatment

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

Trabeculectomy

Trabeculectomy is a surgical procedure used in the treatment of glaucoma to relieve intraocular pressure by removing part of the eye's trabecular meshwork and adjacent structures. It is the most common glaucoma surgery performed and allows drainage of aqueous humor from within the eye to underneath...

.

Etymology

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

Cases of buphthalmos in popular culture

US musical legend Ray Charles

Ray Charles

Ray Charles Robinson , known by his shortened stage name Ray Charles, was an American musician. He was a pioneer in the genre of soul music during the 1950s by fusing rhythm and blues, gospel, and blues styles into his early recordings with Atlantic Records...

, who was totally blind by age 7, had probably been afflicted glaucoma and may have had buphthalmos early in life.