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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 ...
Kearns–Sayre syndrome ( KSS), oculocraniosomatic disorder or oculocranionsomatic neuromuscular disorder with ragged red fibers is a mitochondrial myopathy with a typical onset before 20 years of age. KSS is a more severe syndromic variant of chronic progressive external ophthalmoplegia (abbreviated CPEO), a syndrome that is characterized by ...
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).
1:30,000 to 1:50,000. Leber's hereditary optic neuropathy ( LHON) is a mitochondrially inherited (transmitted from mother to offspring) degeneration of retinal ganglion cells (RGCs) and their axons that leads to an acute or subacute loss of central vision; it predominantly affects young adult males. LHON is transmitted only through the mother ...
8.7% global prevalence in 2020 [ 2] 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 ...
Muscular dystrophies ( MD) are a genetically and clinically heterogeneous group of rare neuromuscular diseases that cause progressive weakness and breakdown of skeletal muscles over time. [ 1] The disorders differ as to which muscles are primarily affected, the degree of weakness, how fast they worsen, and when symptoms begin. [ 1]
Specialty. Ophthalmology. Coats' disease is a rare congenital, nonhereditary eye disorder, causing full or partial blindness, characterized by abnormal development of blood vessels behind the retina. Coats' disease can also fall under glaucoma. It can have a similar presentation to that of retinoblastoma.
Muscle–eye–brain (MEB) disease, also known as muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3 (MDDGA3), [2] is a kind of rare congenital muscular dystrophy (CMD), largely characterized by hypotonia at birth. Patients have muscular dystrophy, central nervous system abnormalities and ocular abnormalities.