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LHON Plus is a rare variant of the disorder with eye disease together with other conditions. [2] Its symptoms include loss of the brain's ability to control the movement of muscles, tremors, and cardiac arrhythmia. [3]
Researchers then analyzed the rate of patients diagnosed with NAION, a rare condition that is the second-leading cause of optic nerve blindness. NAION is believed to be caused by reduced blood ...
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).
CPEO is a rare disease that may affect those of all ages, but typically manifests in the young adult years. CPEO is the most common manifestation of mitochondrial myopathy, occurring in an estimated two-thirds of all cases of mitochondrial myopathy. Patients typically present with ptosis (drooping eyelids).
A representative from Novo Nordisk, the manufacturer of Ozempic, told MNT that “NAION is a very rare eye disease, and it is not an adverse drug reaction for the marketed formulations of ...
Stickler syndrome (hereditary progressive arthro-ophthalmodystrophy) is a group of rare genetic disorders affecting connective tissue, specifically collagen. [1] Stickler syndrome is a subtype of collagenopathy, types II and XI. Stickler syndrome is characterized by distinctive facial abnormalities, ocular problems, hearing loss, and joint and ...
Leber congenital amaurosis (LCA) is a rare inherited eye disease that appears at birth or in the first few months of life. [2]It affects about 1 in 40,000 newborns. [1] LCA was first described by Theodor Leber in the 19th century.
Duane syndrome is a congenital rare type of strabismus most commonly characterized by the inability of the eye to move outward. The syndrome was first described by ophthalmologists Jakob Stilling (1887) and Siegmund Türk (1896), and subsequently named after Alexander Duane, who discussed the disorder in more detail in 1905.