A novel mutation in PAX6 gene causing congenital iris coloboma with congenital cataract in a pedigree / 中华实验眼科杂志

Objective:To identify the pathogenic gene and inheritance pattern in a pedigree of congenital iris coloboma with congenital cataract.Methods:The method of pedigree investigation was adopted.A pedigree of congenital iris coloboma with congenital cataract was collected by Yunnan Disabled Rehabilitation Center and the 2nd Afliated Hospital of Kunming Medical University in February 2020.Ophthalmic examinations were carried out on the female proband, her parents, her children and her husband, and the clinical diagnosis was made.Genomic DNA was extracted from peripheral blood samples collected from the family members.The suspected pathogenic gene in the proband and her husband was screened by whole exome sequencing and was identified by bioinformatics analysis.The amino acid conservation was analyzed by UGENE software.The impact of the mutation on protein translation was predicted using MutationTaster software.The pathogenicity of the mutation was assessed according to the American College of Medical Genetics (ACMG) Standards and Guidelines.Pathogenic gene and mutations were verified by Sanger sequencing.This study adhered to the Declaration of Helsinki.The study protocol was approved by the Ethics Committee of the 2nd Afliated Hospital of Kunming Medical University (No.PJ-2020-61).Written informed consent was obtained from each subject or custodian.Results:The proband showed large iris defects in both eyes with only a small amount of observable iris tissue in the periphery, lens cortical opacity and posterior capsule opacification, accompanied by nystagmus.A novel heterozygous frameshift variation c. 415dupA (p.R139fs) was located in exon 8 of PAX6 gene, and the variation was conservative across multiple species.The variation was in the highly conserved region of PAX6 gene and caused the dysfunction of PAX6 protein.The variation was graded as PVS1+ PM2+ PP1, a pathogenic variation, based on ACMG guidelines.The pedigree was consistent with co-segregation, indicating that the novel variation was pathogenic.The proband and her children were diagnosed, but her parents were phenotypically normal, in accordance with autosomal dominant inheritance. Conclusions:The novel frameshift variation c.415dupA (p.R139fs) on the exon 8 of PAX6 gene is responsible for congenital iris coloboma with congenital cataract in the pedigree.This is the first report of this novel variation in PAX6 gene.

Research progress of angle Kappa in refractive surgery / 眼科新进展

It is great significant for angle Kappa in refractive surgery,and it has been a consensus to adjust angle Kappa,especially in the correction of hyperopia corneal refractive surgery.The population distribution of angle Kappa is influenced by race,age,gender,eye,refractive status,ocular biometry and different precision measuring instruments,and it may also vary with the change of position or pupil size and other factors.At present,fewer researches on visual quality and treatment have been conducted in femtoseeond laser and cataract phacoemulsification combined with multifocal intraocular lens implantation in eyes with large angle Kappa,so more large sample researches are needed to perform in order to provide evidences for clinicians.

The Evaluation of F-VEP on the Efficacy of Using Hyperbaric Oxygen to Treat the Rats with Optic Nerve Crush / 昆明医科大学学报

Objective To observe the effects of hyperbaric oxygen in the treatment of the rats with optic nerve crush. Methods In this study, 24 rats with traumatic optic nerve injury were recruited. The rats'left eyes were injured in the optic nerve and the right eyes as the controls were applied with sham-operation. The rats were divided into the treatment group and the control group in accordance with the random number table. The experimental group was treated with two-course hyperbaric oxygen one hour a day, 10 days a course. The control group breathed fresh air under standard atmospheric pressure. F-VEP was detected on day 3, 10, 20 during the experiment. Results In the control group, latency of F-VEP delayed (P＜0.05) and the amplitude of P100 decreased (P＜0.05) in the injured eye compared to the normal eye. In the experimental group, no obvious difference was found in the latency of F-VEP and the amplitude of P100 in the injured eye compared to the normal eye (P＞ 0.05) . The comparison of F-VEP data of the injured eyes showed that incubation period was in advance (P＜ 0.05) and amplitude increased (P＜0.05) in the experimental group. The comparison of F-VEP data tested at different time points was statistical significant. Conclusion The rat model of optic nerve injury was successful. Hyperbaric oxygen therapy showed no interference with the F-VEP data of the injured eye by causing no damage to the normal eye and was proved effective. Longer treatment provided better results.

Use of indocyanine green staining technique for phacoemulsification in white cataract / 国际眼科杂志(Guoji Yanke Zazhi)

AIM:To observe the application efficiency of 5g/L indocyanine green ( ICG ) staining technique for continuous circular capsulorhexis ( CCC ) during phacoemulsification in white cataract. METHODS:Ninety-eight patients (98 eyes) with white cataract were randomly divided into staining group ( 50 cases, 50 eyes) and control group (48 cases, 48 eyes). The control group didn't do anterior capsule staining. The staining group was injected to fill the anterior chamber, 5g/L ICG 0.1mL was applied on the central surface of the anterior capsule, using a 27G blunt needle through the side-port after 30s, and the redundant ICG was replaced by BSS, and continuous curvilinear capsulorhexis was accomplished using capsulorhexis forceps. RESULTS: In staining group: after ICG staining, the capsule, which presented uniform light green and visualization of the anterior capsule was significantly improved. There are 48 eyes capsulorhexis success. The rate of success was 96%. Meanwhile, in control group, there was 29 eyes capsulorhexis success. The rate of success was 60%. The difference was statistically significant (P CONCLUSION:Indocyanine green staining increases the visibility of anterior capsule in over mature cataract, and it should be an effective and helpful method which can increase the success rate of capsulorehxis. At the same time, it can reduce the incidence of intraoperative complications. This will help beginners quickly grasp continuous curvilinear capsulorhexis, and shorten the learning curve.

Comparison of posterior capsular opacification models by phacoemulsification with or without intraocular lens implantation in rabbit / 中华实验眼科杂志

Background Prevention and treatment of posterior capsular opacification (PCO) is a hot issue.To establish a PCO animal model is the basis of relevant studies.The most common methods of creating a PCO model are phacoemulsification surgery with or without intraocular lens (IOL) implantation.But the suitability of different methods is unclear.Objective This experiment was to compare the outcome between the two methods of establishing a PCO model in rabbit eyes.Methods Twenty New Zealand white rabbits were collected and randomized into 2 groups.Phacoemulsification of cataract with IOL or without IOL implantation was performed on the right eyes of rabbits in these two groups.The operative eyes were examined under the slit lamp from day 1 through 3 months after surgery.The inflammatory response was evaluated and compared between the two groups,and the extent of PCO was graded based on Odrich's criteria.The use of the animals complied with the Regulations for the Administration of Affairs Concerning Experimental Animals by State Science and Technology Commission.Results The inflammatory response,including conjunctival congestion,corneal edema and aqueous flare were less severe in the model eyes with IOL implantation than the eyes without IOL implantation 1-3 days after operation.Inflammatory response gradually disappeared and showed the same degree in the PCO grade from 2 weeks through 3 months in both groups.The numbers of eyes with 1-3 grade of PCO were 8 and 9,and those with 0 grade of PCO were 2 and 1 in the with IOL implantation group and without IOL implantation group,respectively,showing a significant difference (P=0.39).PCO appeared at 1 month,extended at 2 months and formed dense fibrosis following operation.Conclusions The model outcome of phacoemulsification combined with IOL implantation is better than without IOL implantation one.It is the ideal animal model for the study of after cataract.