Management of intrascleral chestnut burr spines under ultrasound biomicroscopy guidance.

Purpose: To explore the efficacy of ultrasound biomicroscopy (UBM) as a tool for detecting and localizing intrascleral chestnut burr spines. Methods: Individuals who were diagnosed with definitive or suspected intrascleral chestnut burr injuries between 2019 and 2020 were retrospectively reviewed. All patients underwent UBM to detect potential intrascleral spines. UBM imaging features were recorded and analyzed. Intrascleral spines were removed based upon UBM-guided localization. Patient clinical profiles, management, and treatment outcomes were recorded. Results: A total of 10 eyes (10 patients; 6 males, 4 females) were diagnosed with intrascleral spines over the study period, with an average patient age of 55 years (range: 39-71). Three of these 10 eyes exhibited involvement of the palpebrae and cornea, whereas three exhibited corneal involvement, and the remaining four patients exhibited only intrascleral spine injuries owing to their having undergone previous intracorneal spine extraction procedures. UBM features consistent with chestnut burr spines manifest a hyperechoic spot with a shadow. UBM enabled the precise localization of these spines and thus ensured their successful removal via a single surgery. During follow-up, two patients experienced vitreous hemorrhage due to a penetrating injury into the ciliary body that was gradually absorbed. All patients with eye irritation and red eyes progressed favorably, and no surgical complications were recorded. Conclusion: A retained scleral chestnut burr spine should be suspected if a patient complains of persistent eye irritation following intracorneal spine removal. UBM may be a valuable tool for detecting spines retained in the sclera, enabling the successful removal thereof.

Outcomes of Canaliculotomy with and without Silicone Tube Intubation in Management of Primary Canaliculitis.

PURPOSE: To compare the outcomes of canaliculotomy and curettage with and without silicone tube intubation in the treatment of primary canaliculitis. METHODS: A prospective, randomized, interventional case series was performed. Fifty patients diagnosed with unilateral inferior primary canaliculitis underwent canaliculotomy with curettage and were randomly divided into two groups depending on silicone tube intubation. Twenty-five patients were recruited in group A (without intubation) and 25 patients were recruited in group B (with intubation). The resolution of infection, the success rate and postoperative complications observed in both groups were analyzed with a minimum follow-up of 1 year. RESULTS: Forty-seven patients were finally included in the study consisting of 23 patients in group A and 24 patients in group B. There were 33 females and 14 males with a median age of 57 ± 13.9 years (range 29-89 years). All patients recorded complete resolution of canaliculitis and no recurrent infections were observed in the 2 groups during follow-up. A significantly higher number of anatomical and functional successes were achieved in patients in group B (100%, 87.5%) than in group A (78.3%, 60.9%) (P < .05,). The surgical complication of canalicular obstruction was significantly higher in patients in group A (21.7%, 5/23) compared to group B (0/24)(P < .05). CONCLUSION: Canaliculotomy with curettage gives excellent clinical outcomes in the treatment of patients with primary canaliculitis and a higher success rate can be achieved when silicone tube intubation is performed during the procedure. The use of silicone tube intubation may be a necessary choice in canaliculotomy to avoid post-operative canalicular obstruction.

[Study of genetic mutation locus in a family with congenital aniridia].

OBJECTIVE: The aim of this study was to determine the genetic mutation locus of congenital aniridia. METHODS: Peripheral vein blood (2-5 ml) was collected from all members of a congenital aniridia family. DNA was extracted, then, the primers of polymorphic microsatellite genetic markers were synthesized, followed by polymerase chain reaction (PCR) analysis. Polyacrylamide gel electrophoresis (PAGE) was used to analyze the denatured PCR products and haplotype linkage analysis was applied according to the relationship between bands and family members to determine the association between the phenotype of aniridia and PAX6 gene. Fourteen exons of human PAX6 gene were amplified by PCR and allele specific variations were detected by single strand conformation polymorphism (SSCP). By comparing the difference of bands between patients and the unaffected members, the mutated exons was detected. The mutated locus was detected by direct DNA automated sequencing of the PCR products with different SSCP bands. RESULTS: PAX6 mutation was linked to the occurrence of aniridia in this family. An extra band corresponding to exon 9 in PAX6 was found by single strand conformational polymorphism analysis in all aniridia patients in this family, but not detected in the unaffected members. A mutation of C to T was detected by sequencing at the nucleotide 1080 that converts the Arg codon (CGA) to a termination codon (TGA). CONCLUSION: Mutation of PAX6 gene can result in the occurrence of congenital aniridia.

Mutation analysis of PAX6 gene in a large Chinese family with aniridia.

BACKGROUND: Mutations in PAX6 gene have been shown to be the genetic cause of aniridia, which is a severe panocular eye disease characterised by iris hypoplasia. However, there is no study to do genetic analysis of aniridia, although there are several case reports in China. Here, we describe a mutation analysis of PAX6 in a large Chinese family with aniridia. METHODS: Genomic DNA from venous blood samples was prepared. Haplotype analysis was performed with two genetic markers (D11S904 and D11S935). Fourteen exons of the PAX6 gene were amplified from genomic DNA. Polymerase chain reaction (PCR) products of each exon were analysed by single strand conformational polymorphism (SSCP). The PCR products having an abnormal pattern were sequenced to confirm the mutation. RESULTS: Significant evidence for allele sharing in affected patients was detected suggesting that PAX6 mutation links to aniridia in this family. An extra band corresponding to exon 9 in PAX6 was found by single strand conformational polymorphism analysis in all the aniridia patients in this family, but not detected in the unaffected members. A mutation of C to T was detected by sequencing at the nucleotide 1080 that converts the Arg codon (CGA) to the termination codon (TGA). CONCLUSIONS: Aniridia is caused by a nonsense mutation of PAX6 gene in the large Chinese kindred. Genetic test is important to prevent the transmission of aniridia to their offsprings in the kindred by prenatal diagnosis.

[PAX6 mutation caused brain abnormalities in humans].

OBJECTIVE: To investigate the association between PAX6 mutation and brain abnormalities. METHODS: The brain structures of 18 affected patients and 6 normal controls in a large pedigree with a PAX6 mutation (c1080C-->T)were scanned with MRI assessing. RESULTS: Most of the affected patients showed brain abnormalities such as corpus callosum degeneration, broad cerebral ventricle grooves and broad olfactory grooves. CONCLUSION: Genetic defect of PAX6 gene may result in brain abnormalities.