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ANOTHER Syndrome - MedlinePlus Genetics

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Last Updated: 02 July 2022

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Leber congenital amaurosis

Leber congenital amaurosis is an eye disease that predominantly affects the retina, which is the specialized tissue at the back of the eye that detects light and color. People with this disorder have severe visual impairment from birth to infancy. An increased sensitivity to light, involuntary movements of the eyes, and extreme farsightedness are all associated with Leber's congenital amaurosis. In addition, the eye's clear front covering may be cone-shaped and abnormally thin, a condition known as keratoconus. Specific behaviour of Leber congenital amaurosis is characterized by a specific behavior identified as Franceschetti's oculo-digital sign. In rare instances, delayed growth and intellectual impairment have been observed in people with Leber congenital amaurosis. However, scientists are uncertain if these individuals have Leber congenital amaurosis or another syndrome with similar signs and symptoms. At least 13 Leber congenital amaurosis have been identified.

Source link: https://medlineplus.gov/genetics/condition/leber-congenital-amaurosis

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions