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A novel human CRYGD mutation in a juvenile autosomal dominant cataract.
Roshan M, Vijaya PH, Lavanya GR, Shama PK, Santhiya ST, Graw J, Gopinath PM, Satyamoorthy K. Roshan M, et al. Mol Vis. 2010 May 22;16:887-96. Mol Vis. 2010. PMID: 20508808 Free PMC article.
RESULTS: DNA sequencing analysis of CRYAA, CRYBB2, CRYGA-D, GJA3, GJA8, and PAX6 of the affected members of a family (C-35) showed a novel heterozygous missense mutation C>A at position 229 in CRYGD in three affected members of family C-35 with anterior polar coronary …
RESULTS: DNA sequencing analysis of CRYAA, CRYBB2, CRYGA-D, GJA3, GJA8, and PAX6 of the affected members of a family (C-35) showed a novel h …
Baseline ophthalmic findings in the vitamin E, cataract and age-related maculopathy (VECAT) study.
Robman LD, Tikellis G, Garrett SK, Harper CA, McNeil JJ, Taylor HR, McCarty CA. Robman LD, et al. Aust N Z J Ophthalmol. 1999 Dec;27(6):410-6. doi: 10.1046/j.1440-1606.1999.00240.x. Aust N Z J Ophthalmol. 1999. PMID: 10641899 Clinical Trial.
Nuclear cataract (nuclear opacity grade >2) was present in 4.5%, cortical cataract (cortical opacity grade >2) in 14.3% and posterior subcapsular cataract in 3.0% of participants; in addition, coronary cataract was observed in 13.6%. Soft drusen larger …
Nuclear cataract (nuclear opacity grade >2) was present in 4.5%, cortical cataract (cortical opacity grade >2) in 14.3% and posterior …
A novel mutation in CRYBB2 responsible for inherited coronary cataract.
Lou D, Tong JP, Zhang LY, Chiang SW, Lam DS, Pang CP. Lou D, et al. Eye (Lond). 2009 May;23(5):1213-20. doi: 10.1038/eye.2008.222. Epub 2008 Jul 11. Eye (Lond). 2009. PMID: 18617901
METHODS: One Chinese three-generation family with inherited coronary cataract phenotype was recruited. Five affected and seven unaffected family members attended our study. ...It is the first reported mutation for coronary cataract. Functional characte …
METHODS: One Chinese three-generation family with inherited coronary cataract phenotype was recruited. Five affected and seven …
A new locus for autosomal dominant congenital coronary cataract in a Chinese family maps to chromosome 3q.
Liu G, Li Y, Ruan Y, Cao W, Xin L, Qian J, Gu J. Liu G, et al. Mol Vis. 2010 May 19;16:874-9. Mol Vis. 2010. PMID: 20508730 Free PMC article.
PURPOSE: To identify the genetic defect in an autosomal dominant congenital coronary cataract family (ADCCC). METHODS: A Chinese family with ADCC was identified and characterized. ...Linkage analysis was performed after genotyping. Two-point Logarithm of odds (LOD) …
PURPOSE: To identify the genetic defect in an autosomal dominant congenital coronary cataract family (ADCCC). METHODS: A Chine …