Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0086543 (cataract)
 29,165 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Standard biconvex 12 mm diameter IOGEL PC-1 hydrogel intraocular lenses were inserted into the eyes of 55 patients using intercapsular in-the-bag placement and extracapsular ciliary sulcus placement. All patients had senile cataracts. Endothelial specular microscopic assessment was performed preoperatively and postoperatively at six and 12 months. Viscoelastic agents were not used in any of the cases and upper haptic positioning was achieved with dialing and irrigation and iris retraction in each group, respectively. Major complications in both groups were iridocapsular synechias. This resulted in dislocation of a single haptic into the anterior chamber angle in one ciliary-sulcus-placed lens and in an updrawn pupil in one of the intercapsular cases. Pigment dispersion syndrome occurred in one case with a ciliary-sulcus-placed lens. In one case in each group a Nd:YAG laser posterior capsulotomy was performed. Whereas the visual results in each group were similar, the percentage cell loss was significantly greater in the group with lenses in the ciliary sulcus at six months postoperatively. The lower cell loss in the intercapsular group was attributed to the protective effect of the anterior capsule on the endothelium during the major intraocular manipulations.
J Cataract Refract Surg 1989 Sep
PMID:Results of the intercapsular technique with the IOGEL lens. 268 85

Pachyonychia congenita (PC) is a group of inherited ectodermal dysplasias, the characteristic phenotype being hypertrophic nail dystrophy. Two main clinical subtypes, PC-1 and PC-2, are inherited as autosomal dominant disorders, but other less well characterized clinical forms also exist. The PC-1 phenotype may be distinguished by the absence of the epidermal cysts found in PC-2, and it has been shown to be caused by mutations in either keratin K16 or its expression partner, the K6a isoform of K6. Mutations in K16 have also been shown to cause a milder related phenotype, focal non-epidermolytic palmoplantar keratoderma. Recently, we have developed a long-range polymerase chain reaction (PCR) strategy which allows specific amplification of the entire functional K16 gene (KRT16A), without amplification of the two K16 pseudogenes (psiKRT16B and psiKRT16C), enabling mutation analysis based on genomic DNA. Here, using this methodology, we describe novel mutations R127P and Q122P in the helix 1A domain of K16 in two families presenting with PC-1. Both mutations were excluded from 50 normal unrelated individuals by restriction enzyme analysis of K16 PCR fragments. In one family, ultrastructural analysis was performed, revealing distinctive tonofilament abnormalities. Specifically, keratin filament bundles were greatly condensed, but did not form the dense amorphous aggregates seen in a number of other keratin disorders. In the second kindred, autosomal dominant cataract was present in some but not all members affected by PC. As the cataract phenotype did not fully cosegregate with the K16 mutation, and given that K16 is not expressed in the lens, these two phenotypes may be coincidental.
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PMID:Novel proline substitution mutations in keratin 16 in two cases of pachyonychia congenita type 1. 1060 45