Ocular albinism (pronounced ˈɑːkjʊlər ælˈbaɪnɪzəm) is a genetic condition that affects the eyes. It is caused by a mutation in the genes that produce melanin, a pigment that gives color to the skin, eyes, and hair. Individuals with ocular albinism have difficulty producing melanin, resulting in vision problems such as nystagmus (involuntary eye movements), strabismus (crossed or wandering eyes), and sensitivity to bright light. The spelling of this word is based on the International Phonetic Alphabet (IPA) which uses symbols to represent the sounds of language.
Ocular albinism is a genetic eye disorder characterized by the absence or reduced pigmentation in the iris, retina, and other structures within the eye. It is a subtype of albinism that primarily affects the eyes, as opposed to the more generalized form known as oculocutaneous albinism.
Individuals with ocular albinism often present with pale blue or grayish eye color due to the lack of melanin pigment. The condition can lead to various visual impairments, including reduced visual acuity, nystagmus (involuntary eye movements), and increased sensitivity to light (photophobia). Additionally, those with ocular albinism may experience difficulties with depth perception and eye coordination.
The genetic mutation responsible for ocular albinism affects the production, transportation, or storage of melanin pigment within specialized cells of the eye. This disruption in normal pigment distribution can lead to abnormalities in the development of the retina and optic nerve, resulting in visual abnormalities.
Ocular albinism is an inherited disorder, commonly passed down through an X-linked recessive pattern, meaning it mainly affects males. However, females can also be carriers or express milder forms of the condition. Genetic testing can determine the presence of mutations responsible for ocular albinism.
While there is no cure for ocular albinism, vision aids such as corrective lenses or glasses with tinted lenses can help improve visual functioning. Eye care professionals can also recommend strategies to manage photophobia and maximize vision in daily activities.
The word "ocular" derives from the Latin word "oculus", which means "eye". "Albinism" comes from the Latin word "albus", meaning "white". When combined, "ocular albinism" refers to a condition characterized by a lack of pigment in the eyes.