In nonglaucomatous eyes with an open ICA preoperatively, uneventful phacoemulsification reduced IOP, increased ACD, and widened the ICA. The changes were statistically significant over 6 months.
Diabetic papillopathy may be found in older patients with type II diabetes. Nonproliferative or proliferative diabetic retinopathy as well as macular edema may also be associated with this disorder.
To increase the accuracy of RNFL thickness measurements, it will be appropriate for the examiner to manually correct the actual scan parameters to the desired or preset ones after their automatic modification performed by the OCT instrument. Keeping the actual scan radius constant for repeated exams is also recommended because RNFL thickness measurements were found to depend on scan size. Alternatively, RNFL(estimated integrals) could be used because they were found to be independent of the scan size.
In cases of cataract associated with pseudoexfoliation syndrome, implanting a CTR before phacoemulsification of the nucleus reduced intraoperative zonular separation, increased the rate of capsular IOL fixation, and improved UCVA.
No statistically significant difference was found between conventional and torsional phacoemulsification with respect to USTT and CDE. Torsional mode led to a significant reduction in US power in footswitch position 3. Torsional mode also appears to be associated with less loss of ECD.
Purpose
Copy-number variations as a mutational mechanism contribute significantly to human disease. Approximately one-half of the patients with Charcot–Marie–Tooth (CMT) disease have a 1.4 Mb duplication copy-number variation as the cause of their neuropathy. However, non-CMT1A neuropathy patients rarely have causative copy-number variations, and to date, autosomal-recessive CMT disease has not been associated with copy-number variation as a mutational mechanism.
Methods
We performed Agilent 8 × 60K array comparative genomic hybridization on DNA from 12 recessive Turkish families with CMT disease. Additional molecular studies were conducted to detect breakpoint junctions and to evaluate gene expression levels in a family in which we detected an intragenic duplication copy-number variation.
Results
We detected an ~6.25 kb homozygous intragenic duplication in NDRG1, a gene known to be causative for recessive HMSNL/CMT4D, in three individuals from a Turkish family with CMT neuropathy. Further studies showed that this intragenic copy-number variation resulted in a homozygous duplication of exons 6–8 that caused decreased mRNA expression of NDRG1.
Conclusion
Exon-focused high-resolution array comparative genomic hybridization enables the detection of copy-number variation carrier states in recessive genes, particularly small copy-number variations encompassing or disrupting single genes. In families for whom a molecular diagnosis has not been elucidated by conventional clinical assays, an assessment for copy-number variations in known CMT genes might be considered.
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