PRA-prcd is a specific inherited form of progressive retinal atrophy causing degeneration of retinal photoreceptors, usually leading to progressive vision loss and eventual blindness.
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PRA-rcd1 is a specific inherited form of progressive retinal atrophy causing degeneration of retinal photoreceptors, usually leading to progressive vision loss and eventual blindness.
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Von Willebrand disease Type II is an inherited qualitative von Willebrand factor disorder in which the factor is present but structurally or functionally abnormal, causing impaired platelet adhesion and potentially moderate to severe bleeding.
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Ocular melanosis is a pigmentary ocular disorder characterized by abnormal melanocyte or pigment accumulation within eye tissues, which can obstruct aqueous humor outflow and lead to secondary glaucoma and vision loss.
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An open fontanelle is incomplete closure of the cranial bones at the skull midline, leaving a persistent soft spot over the brain and sometimes occurring with hydrocephalus or other congenital skull abnormalities.
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Pancreatitis is inflammation of the pancreas that causes premature activation of pancreatic enzymes, local tissue injury, abdominal pain, gastrointestinal signs, and possible systemic inflammatory complications.
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X-linked hereditary nephritis is an inherited collagen IV basement membrane disorder caused by COL4A5 variants, producing progressive glomerular disease with proteinuria, declining kidney function, and in some lines associated hearing loss.
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PRA-crd3 is a cone-rod dystrophy form of progressive retinal atrophy associated with ADAM9-related retinal degeneration, classically described in the Glen of Imaal Terrier.
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PRA-IG1 susceptibility refers to a genetic susceptibility marker associated with increased risk for a progressive retinal atrophy phenotype, rather than a simple diagnosis based only on visible eye signs.
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Persistent hyperplastic primary vitreous is a congenital ocular developmental anomaly in which fetal vitreous and vascular tissue fail to regress normally, causing lens, vitreous, and retinal abnormalities that may impair vision.
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