Stickler症候群、19A52
http://www.ncbi.nlm.nih.gov/omim/108300
MIM ID #108300GeneTests, LinksSTICKLER SYNDROME, TYPE I; STL1Alternative titles; symbols
Seery et al. (1990) found cataracts of various types or aphakia in 115 of 231 eyes of patients with Stickler syndrome. The most frequent and distinctive lesions, described as wedge and fleck cataracts, accounted for 40 of the 93 cataracts observed.
Seery, C. M., Pruett, R. C., Liberfarb, R. M., Cohen, B. Z. Distinctive cataract in the Stickler syndrome. Am. J. Ophthal. 110: 143-148, 1990. [PubMed: 2378378]
OMIMによると、Stickler syndromeには、type1,2,3があるらしい。
<Type2>
Poulson et al. (2004) examined 31 affected members from 6 pedigrees with confirmed mutations in the COL11A1 gene, all of whom exhibited the ‘beaded’ type 2 vitreous phenotype. Twenty-seven (87%) of these patients were myopic, 38% had paravascular lattice retinopathy, and 64% either had cataract or were aphakic or pseudophakic. Of the 15 patients with cataract, 5 exhibited the wedge-shaped cortical opacities typical of Stickler syndrome. Thirteen patients (42%) had suffered retinal detachment, at an average age of 34 years; 6 (19%) had bilateral detachments.
http://www.ncbi.nlm.nih.gov/omim/604841
<Type3>
cataractで検索してもhitせず。
結論としては、Stickler症候群は、wedge and fleck cataractは起こしやすいが、核白内障をおこしやすいという記述は見当たらなかった。
<Wagner症候群>
http://en.wikipedia.org/wiki/Wagner’s_disease
http://www.ncbi.nlm.nih.gov/omim/143200MIM ID #143200GeneTests, LinksWAGNER SYNDROME 1; WGN1
Wagner syndrome has no systemic features (Richards et al., 2006).
Wagner syndromeの方が、Stickler Syndromeよりも、網膜剥離を起こす確率は低く、夜盲を起こすことが多い。