Albinism, Ocular
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  Albinism, Ocular



Albinism, Ocular

   Albinism affecting the eye in which pigment of the hair and skin is normal or only slightly diluted. The classic type is X-linked (Nettleship-Falls), but an autosomal recessive form also exists. Ocular abnormalities may include reduced pigmentation of the iris, nystagmus, photophobia, strabismus, and decreased visual acuity.

RELATED TERMS
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Albinism
A hereditary condition in which darker pigment fails to form in the eye, hair and skin. In ocular albinism, visual acuity ranges from 20/40 to 20/200 (legal blindness), the eyes may dance (nystagmus) and the person is very sensitive to sunlight. No treatment is available, except dark sunglasses for the photophobia.

Hair
A modification of the epidermis found on almost every surface of the body except the palms of the hands, soles of the feet, and the glans penis. It is a filament of KERATIN consisting of a shaft, a root, and a point.

Skin
Skin is an organ of the integumentary system; which is composed of a layer of tissues that protect underlying muscles and organs. Skin is used for insulation, vitamin D production, sensation, and excretion (through sweat).

Autosomal
"Pertaining to a chromosome that is not a sex chromosome; relating to any one of the chromosomes save the sex chromosomes. People normally have 22 pairs of autosomes (44 autosomes) in each cell together with two sex chromosomes (X and Y in the male and XX in the female). "

Ocular
Having to do with the eye.

Iris


Nystagmus
Nystagmus is a rhythmic, repetitive, oscillatory eye movement. It may occur as a result of vestibular problems, as a result of visual problems, or as a result of certain brain stem or cerebellar abnormalities. Vestibular Nystagmus is characterized by a slow migration of the eyes in the wrong direction, followed by a sudden jerking back response.

Photophobia
Severe discomfort to bright lights. Usually a symptom of eye disease, such as glaucoma, in an infant or retinal disease in a child or adult. Sometimes treated with dark sunglasses.

Strabismus
Misaligned eyes. See exotropia, esotropia and hyperopia.

Acuity
The highest spatial frequency rsolvable with a grating of unity contrast (i.e. the maximum possibly contrast).



SIMILAR TERMS
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Albinism
A hereditary condition in which darker pigment fails to form in the eye, hair and skin. In ocular albinism, visual acuity ranges from 20/40 to 20/200 (legal blindness), the eyes may dance (nystagmus) and the person is very sensitive to sunlight. No treatment is available, except dark sunglasses for the photophobia.

Albinism and hemorrhagic diathesis
See: Hermansky-Pudlak syndrome.

Albinism, oculocutaneous
An hereditary disorder characterized by deficiency of the pigment melanin in the eyes, skin and hair. The lack of eye pigment causes photophobia (sensitivity to light), nystagmus, and decreased visual acuity. Oculocutaneous albinism is conventionally classified as to whether it is tyrosinase-negative or tyrosinase-positive. In the tyrosinase-negative class, there is absence of the enzyme tyrosinase. In the tyrosinase-positive class, tyrosinase is present but it cannot enter pigment cells to do its job and make melanin.

Albinism, Yellow-Mutant
Heterogeneous group of autosomal recessive disorders comprising at least four recognized types, all having in common varying degrees of hypopigmentation of the skin, hair, and eyes. The two most common are the tyrosinase-positive and tyrosinase-negative types.

Albino
A person with albinism.



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Alarm Systems, Equipment
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Albinism, Yellow-Mutant
Heterogeneous group of autosomal recessive disorders comprising at least four recognized types, all having in common varying degrees of hypopigmentation of the skin, hair, and eyes. The two most common are the tyrosinase-positive and tyrosinase-negative types.

Albinism, Ocular

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