Purpose: To compare the prevalence of cataract in workers exposed to trinitrot oluene (TNT) to the prevalence in a group of unexposed workers, matched on age a nd sex, using Tiukina’s description and grading of TNT-i...Purpose: To compare the prevalence of cataract in workers exposed to trinitrot oluene (TNT) to the prevalence in a group of unexposed workers, matched on age a nd sex, using Tiukina’s description and grading of TNT-induced cataract. Methods: A total of 23 TNT-exposed and 44 unexposed workers underwent an eye examination p erformed by an ophthalmologist who did not know the exposure status of the subje cts. All lens opacities matching Tiukina’s description were classified as TNT c ataract and graded on Tiukina’s scale of stages 1-4. Results: Four cases of TN T-induced cataract were identified among the 23 TNTexposed workers and none in the unexposed group (p< 0.01). Conclusion: Exposure to TNT may cause a unique ty pe of cataract, which a general ophthalmologist, using Tiukina’s description an d grading scale, will be able to distinguish from other cataracts.展开更多
Background: The authors recently identified three large genetically unrelated families with an identical 17 base pair duplication mutation in exon 4 of the PITX3 gene. Here, they report the detailed clinical phenotype...Background: The authors recently identified three large genetically unrelated families with an identical 17 base pair duplication mutation in exon 4 of the PITX3 gene. Here, they report the detailed clinical phenotype. Methods: Affected and unaffected individuals in the three families with autosomal dominant posterior polar cataract underwent full clinical examination and donated blood samples for DNA extraction and molecular genetic studies. Results: In all three families, an identical 17 base pair duplication mutation in PITX3 was identified which cosegregated with disease status in the family. All affected individuals had bilateral progressive posterior polar cataracts. In one family, posterior polar cataract was the only clinical abnormality but in the other two families, one of 10 affected individuals and four of 11 affected individuals also had anterior segment mesenchymal dysgenesis (ASMD). Conclusion: Mutations in the PITX3 gene in humans result in posterior polar cataract and variable ASMD. The gene encodes a transcription factor which has a key role in lens and anterior segment development. The mechanism by which the mutant protein gives rise to such a regional pattern of lens opacity remains to be elucidated.展开更多
文摘Purpose: To compare the prevalence of cataract in workers exposed to trinitrot oluene (TNT) to the prevalence in a group of unexposed workers, matched on age a nd sex, using Tiukina’s description and grading of TNT-induced cataract. Methods: A total of 23 TNT-exposed and 44 unexposed workers underwent an eye examination p erformed by an ophthalmologist who did not know the exposure status of the subje cts. All lens opacities matching Tiukina’s description were classified as TNT c ataract and graded on Tiukina’s scale of stages 1-4. Results: Four cases of TN T-induced cataract were identified among the 23 TNTexposed workers and none in the unexposed group (p< 0.01). Conclusion: Exposure to TNT may cause a unique ty pe of cataract, which a general ophthalmologist, using Tiukina’s description an d grading scale, will be able to distinguish from other cataracts.
文摘Background: The authors recently identified three large genetically unrelated families with an identical 17 base pair duplication mutation in exon 4 of the PITX3 gene. Here, they report the detailed clinical phenotype. Methods: Affected and unaffected individuals in the three families with autosomal dominant posterior polar cataract underwent full clinical examination and donated blood samples for DNA extraction and molecular genetic studies. Results: In all three families, an identical 17 base pair duplication mutation in PITX3 was identified which cosegregated with disease status in the family. All affected individuals had bilateral progressive posterior polar cataracts. In one family, posterior polar cataract was the only clinical abnormality but in the other two families, one of 10 affected individuals and four of 11 affected individuals also had anterior segment mesenchymal dysgenesis (ASMD). Conclusion: Mutations in the PITX3 gene in humans result in posterior polar cataract and variable ASMD. The gene encodes a transcription factor which has a key role in lens and anterior segment development. The mechanism by which the mutant protein gives rise to such a regional pattern of lens opacity remains to be elucidated.
