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Choroideremia (/ k ɒ ˌ r ɔɪ d ɪ ˈ r iː m i ə /; CHM) is a rare, X-linked recessive form of hereditary retinal degeneration that affects roughly 1 in 50,000 males. The disease causes a gradual loss of vision, starting with childhood night blindness, followed by peripheral vision loss and progressing to loss of central vision later in life.
Punctate inner choroiditis (PIC) is an inflammatory choroiditis which occurs mainly in young women. Symptoms include blurred vision and scotomata. Yellow lesions are mainly present in the posterior pole and are between 100 and 300 micrometres in size. PIC is one of the so-called White Dot Syndromes.
Because females have two X-chromosomes, the mother will not be affected by carrying only one abnormal X-chromosome, but any male children will have a 50% chance of being affected with the disorder by inheriting the faulty gene. Likewise, her female children will have a 50% chance of being carriers for the immunodeficiency.
Based on 2005-2006 estimates, the Centers for Disease Control and Prevention has stated that approximately 5.5 million Americans a year are either admitted to a hospital or seen by a physician, with some form of anemia as their primary diagnosis. [4] Symptoms of anaemia include Plummer–Vinson syndrome, candidal infections.
Oculocerebrorenal syndrome (also called Lowe syndrome) is a rare X-linked recessive disorder characterized by congenital cataracts, hypotonia, intellectual disability, proximal tubular acidosis, aminoaciduria and low-molecular-weight proteinuria.
Barth syndrome (BTHS) is a rare but serious X-linked genetic disorder, caused by changes in phospholipid structure and metabolism.It may affect multiple body systems (though mainly characterized by pronounced pediatric-onset cardiomyopathy), and is potentially fatal. [3]
Margaret Casey, a 29-year-old woman with progeria who was then believed to be the oldest survivor of the premature aging disease, died on Sunday, May 26, 1985. Casey, a freelance artist, was admitted to Yale-New Haven Hospital on the night of May 25 with respiratory problems, which caused her death. [ 88 ]
This theoretical female would therefore have cones with peak sensitivities at 420 nm (S cone), 530 nm (M cone), 560 nm (L cone) and the fourth (anomalous) cone between 530 nm and 560 nm (either M* or L* cone). [11] [12] [13] If a female is heterozygous for both protanomaly and deuteranomaly, she could be pentachromatic. The degree to which ...