FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W1978486342> ?p ?o ?g. }

• W1978486342 endingPage "173" @default.
• W1978486342 startingPage "161" @default.
• W1978486342 abstract "Alport syndrome has a prevalence of 1/5000, and 85% of patients have the X-linked form, where affected males develop renal failure and usually have a high-tone sensorineural deafness by the age of 20. The typical ocular associations are a dot-and-fleck retinopathy which occurs in about 85% of affected adult males, anterior lenticonus which occurs in about 25%, and the rare posterior polymorphous corneal dystrophy. The retinopathy and anterior lenticonus are not usually demonstrated in childhood but worsen with time so that the retinal lesion is often present at the onset of renal failure, and the anterior lenticonus, later. The demonstration of a dot-and-fleck retinopathy in any individual with a family history of Alport syndrome or with end-stage renal disease is diagnostic of Alport syndrome. The presence of anterior lenticonus or posterior polymorphous corneal dystrophy in any individual is highly suggestive of the diagnosis of Alport syndrome. Additional ocular features described in X-linked Alport syndrome include other corneal dystrophies, microcornea, arcus, iris atrophy, cataracts, spontaneous lens rupture, spherophakia, posterior lenticonus, a poor macular reflex, fluorescein angiogram hyperfluorescence, electrooculogram and elec-troretinogram abnormalities, and retinal pigmentation.All mutations demonstrated to date in X-linked Alport syndrome have affected the COL4A5 gene which encodes the alpha 5 chain of type IV collagen. This protein is probably common to the basement membranes of the glomerulus, cochlea, retina, lens capsule, and cornea. However, the alpha 3(IV) and 4(IV) as well as the alpha 5(IV) collagen chains are usually absent from the affected basement membranes, because the abnormal alpha 5(IV) molecule interferes with the stability of all three. The loss of these collagen molecules from the affected basement membranes results in an abnormal ultrastructur-al appearance.The ocular and other clinical features of autosomal recessive Alport syndrome are identical to those seen in X-linked disease, while retinopathy and cataracts are the only ocular abnormalities described in the rare autosomal dominant form of Alport syndrome. There are no ocular associations of thin basement membrane disease which is a common disease that probably represents the heterozygous expression of X-linked or autosomal recessive Alport syndrome." @default.
• W1978486342 created "2016-06-24" @default.
• W1978486342 creator A5015357787 @default.
• W1978486342 creator A5090730811 @default.
• W1978486342 date "1997-01-01" @default.
• W1978486342 modified "2023-09-26" @default.
• W1978486342 title "A review of the ocular manifestations" @default.
• W1978486342 cites W145769574 @default.
• W1978486342 cites W1494306824 @default.
• W1978486342 cites W1501581564 @default.
• W1978486342 cites W1548093643 @default.
• W1978486342 cites W1550732922 @default.
• W1978486342 cites W1553347455 @default.
• W1978486342 cites W1564111253 @default.
• W1978486342 cites W1594286007 @default.
• W1978486342 cites W1606308790 @default.
• W1978486342 cites W170942874 @default.
• W1978486342 cites W1970658914 @default.
• W1978486342 cites W1973005559 @default.
• W1978486342 cites W1973064020 @default.
• W1978486342 cites W1976089742 @default.
• W1978486342 cites W1977410081 @default.
• W1978486342 cites W1978137640 @default.
• W1978486342 cites W1980559418 @default.
• W1978486342 cites W1988737562 @default.
• W1978486342 cites W1989457569 @default.
• W1978486342 cites W1995313820 @default.
• W1978486342 cites W1997331326 @default.
• W1978486342 cites W1999190014 @default.
• W1978486342 cites W2007935067 @default.
• W1978486342 cites W2011052417 @default.
• W1978486342 cites W2016391595 @default.
• W1978486342 cites W2022942800 @default.
• W1978486342 cites W2029593404 @default.
• W1978486342 cites W2029863361 @default.
• W1978486342 cites W2031078335 @default.
• W1978486342 cites W2036675991 @default.
• W1978486342 cites W2039118481 @default.
• W1978486342 cites W2041408592 @default.
• W1978486342 cites W2042102612 @default.
• W1978486342 cites W2046144983 @default.
• W1978486342 cites W2049077785 @default.
• W1978486342 cites W2049440576 @default.
• W1978486342 cites W2049669592 @default.
• W1978486342 cites W2049702083 @default.
• W1978486342 cites W2052889561 @default.
• W1978486342 cites W2057431638 @default.
• W1978486342 cites W2057823962 @default.
• W1978486342 cites W2059844457 @default.
• W1978486342 cites W2062637379 @default.
• W1978486342 cites W2065354759 @default.
• W1978486342 cites W2065712775 @default.
• W1978486342 cites W2067056664 @default.
• W1978486342 cites W2067291219 @default.
• W1978486342 cites W2069136029 @default.
• W1978486342 cites W2080731285 @default.
• W1978486342 cites W2081412246 @default.
• W1978486342 cites W2082512710 @default.
• W1978486342 cites W2089530848 @default.
• W1978486342 cites W2092997581 @default.
• W1978486342 cites W2093773144 @default.
• W1978486342 cites W2097786615 @default.
• W1978486342 cites W2101779374 @default.
• W1978486342 cites W2102396428 @default.
• W1978486342 cites W2105298059 @default.
• W1978486342 cites W2115527716 @default.
• W1978486342 cites W2164865778 @default.
• W1978486342 cites W2171554015 @default.
• W1978486342 cites W2230546260 @default.
• W1978486342 cites W2315885976 @default.
• W1978486342 cites W4245773523 @default.
• W1978486342 cites W4253577731 @default.
• W1978486342 cites W4253793079 @default.
• W1978486342 cites W4253876295 @default.
• W1978486342 cites W81204267 @default.
• W1978486342 cites W2008072949 @default.
• W1978486342 doi "https://doi.org/10.3109/13816819709041431" @default.
• W1978486342 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/9457747" @default.
• W1978486342 hasPublicationYear "1997" @default.
• W1978486342 type Work @default.
• W1978486342 sameAs 1978486342 @default.
• W1978486342 citedByCount "199" @default.
• W1978486342 countsByYear W19784863422012 @default.
• W1978486342 countsByYear W19784863422013 @default.
• W1978486342 countsByYear W19784863422014 @default.
• W1978486342 countsByYear W19784863422015 @default.
• W1978486342 countsByYear W19784863422016 @default.
• W1978486342 countsByYear W19784863422017 @default.
• W1978486342 countsByYear W19784863422018 @default.
• W1978486342 countsByYear W19784863422019 @default.
• W1978486342 countsByYear W19784863422020 @default.
• W1978486342 countsByYear W19784863422021 @default.
• W1978486342 countsByYear W19784863422022 @default.
• W1978486342 countsByYear W19784863422023 @default.
• W1978486342 crossrefType "journal-article" @default.
• W1978486342 hasAuthorship W1978486342A5015357787 @default.
• W1978486342 hasAuthorship W1978486342A5090730811 @default.
• W1978486342 hasConcept C118487528 @default.

• next