AIM: To analyze phenotype and genotype of a Chinese pedigree with Avellino corneal dystrophy (ACD). METHODS: Complete ophthalmic examinations were performed on all the family members. Exons of TGFBI were amplified by polymerase chain reaction, sequenced, and compared with a reference database. RESULTS: A single heterozygous G>A (R124H) point mutation was identified in exon 4 of TGFBI in three affected members and two unaffected children who were offsprings of the affected members, but not in the other family members. CONCLUSION: Mutation R124H in TGFBI was identified in this pedigree and appeared to be the disease causing mutation. Atypical phenotype and low penetrance was observed in this pedigree.
AIM: To analyze phenotype and genotype of a Chinese pedigree with Avellino corneal dystrophy (ACD). METHODS: Complete ophthalmic examinations were performed on all the family members. Exons of TGFBI were amplified by polymerase chain reaction, sequenced, and compared with a reference database. RESULTS: A single heterozygous G>A (R124H) point mutation was identified in exon 4 of TGFBI in three affected members and two unaffected children who were offsprings of the affected members, but not in the other family members. CONCLUSION: Mutation R124H in TGFBI was identified in this pedigree and appeared to be the disease causing mutation. Atypical phenotype and low penetrance was observed in this pedigree.
Authors: H Watanabe; Y Hashida; K Tsujikawa; M Tsujikawa; N Maeda; Y Inoue; S Yamamoto; Y Tano Journal: Am J Ophthalmol Date: 2001-08 Impact factor: 5.258
Authors: N A Afshari; J E Mullally; M A Afshari; R F Steinert; A P Adamis; D T Azar; J H Talamo; C H Dohlman; T P Dryja Journal: Arch Ophthalmol Date: 2001-01
Authors: Anthony J Aldave; Baris Sonmez; S Lance Forstot; Sylvia A Rayner; Vivek S Yellore; Ben J Glasgow Journal: Am J Ophthalmol Date: 2006-12-29 Impact factor: 5.258