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Retinitis pigmentosa (RP) is a member of a group of genetic disorders called inherited retinal dystrophy (IRD) that cause loss of vision. [1] Symptoms include trouble seeing at night and decreasing peripheral vision (side and upper or lower visual field). [1]
Development continued, and in December 2017 the FDA approved Voretigene neparvovec (Luxturna), an adeno-associated virus vector-based gene therapy for children and adults with biallelic RPE65 gene mutations responsible for retinal dystrophy, including Leber congenital amaurosis. People must have viable retinal cells as a prerequisite for the ...
Macular degeneration, also known as age-related macular degeneration (AMD or ARMD), is a medical condition which may result in blurred or no vision in the center of the visual field. [1] Early on there are often no symptoms. [1] Over time, however, some people experience a gradual worsening of vision that may affect one or both eyes. [1]
Voretigene neparvovec, sold under the brand name Luxturna, is a gene therapy medication for the treatment of Leber congenital amaurosis. [4] Leber's congenital amaurosis, or biallelic RPE65-mediated inherited retinal disease, is an inherited disorder causing progressive blindness. Voretigene is the first treatment available for this condition. [7]
Vitelliform macular dystrophy is an irregular autosomal dominant eye disorder which can cause progressive vision loss. [1] This disorder affects the retina, specifically cells in a small area near the center of the retina called the macula. The macula is responsible for sharp central vision, which is needed for detailed tasks such as reading ...
Stargardt disease is the most common inherited single-gene retinal disease. [1] In terms of the first description of the disease, [2] it follows an autosomal recessive inheritance pattern, which has been later linked to bi-allelic ABCA4 gene variants (STGD1).
Occult macular dystrophy (OMD) is a rare inherited degradation of the retina, characterized by progressive loss of function in the most sensitive part of the central retina , the location of the highest concentration of light-sensitive cells (photoreceptors) but presenting no visible abnormality.
Treatment is based on the cause of the retinopathy and may include laser therapy to the retina. Laser photocoagulation therapy has been the standard treatment for many types of retinopathy. Evidence shows that laser therapy is generally safe and improves visual symptoms in sickle cell and diabetic retinopathy.
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