Aniridia is a medical term that refers to the congenital absence of the iris, the colored part of the eye. The word is pronounced /ˌænɪˈrɪdiə/ (an-ih-rid-ee-ə) in IPA phonetic transcription. The spelling of the word follows standard English spelling rules, with the prefix "an-" meaning "without," and the suffix "-ia" indicating a medical condition or disease. Aniridia is a rare genetic disorder that affects approximately 1 in 50,000 people worldwide and can cause reduced visual acuity and sensitivity to light.
Aniridia is a medical term used to describe a rare genetic condition characterized by the partial or complete absence of the iris, which is the colored part of the eye. The iris helps regulate the amount of light that enters the eye. In individuals with aniridia, the iris may be only partially developed or completely absent, resulting in a notable lack of pigmentation in the eye.
People with aniridia often have poor vision due to various associated complications, including reduced visual acuity, sensitivity to bright light (photophobia), and in some cases, nystagmus (involuntary eye movement). The condition may also lead to refractive errors, such as nearsightedness or farsightedness, and increased risk of developing other eye conditions like cataracts and glaucoma.
Aniridia is typically an inherited condition caused by a mutation in the PAX6 gene, which plays a vital role in eye development. However, in some cases, it can also occur sporadically without a family history. The condition is usually diagnosed at birth or soon after, based on the distinctive feature of absent or underdeveloped iris.
While there is currently no cure for aniridia, treatment mainly involves managing the associated symptoms and complications. This may involve wearing tinted glasses or contact lenses to alleviate discomfort from light sensitivity, using prescription eyeglasses or contact lenses to correct refractive errors, and regular monitoring to detect and manage any potential complications. Additionally, early intervention and visual aids such as magnifiers or CCTV devices may be beneficial for individuals with reduced visual acuity. Genetic counseling is often recommended for affected individuals and their families to understand the inheritance pattern and the potential risks in future generations.
Absence, complete or partial, of the iris; irideremia.
A practical medical dictionary. By Stedman, Thomas Lathrop. Published 1920.
The word "Aniridia" has its origins in the Greek language. It is derived from the combination of two Greek words: "a-" meaning "without", and "iridos" meaning "iris", which refers to the colored part of the eye. Hence, "Aniridia" literally means "without iris". The term is used in medicine to describe a congenital condition in which a person is born without an iris or with only a partially formed iris.