Vision Improvement in Keratoconus Patients Trained With Perceptual Learning: A Randomized Controlled Trial.

PURPOSE: To investigate the effectiveness and maintenance of perceptional learning (PL) on vision improvement in keratoconus (KC) patients corrected with spectacles. DESIGN: Randomized, double-blind clinical trial. METHODS: Non-progressive KC patients 9 years of age or older who had best spectacle-corrected distance visual acuity (CDVA) of 0 to 1.0 logMAR (Snellen equivalent range 20/20 to 20/200) and who were contact lenses intolerant were enrolled. Eligible subjects were randomized into PL and control groups to receive PL and placebo training for 3 months, respectively. Spectacle-corrected visual acuity, contrast sensitivity function (CSF), stereoacuity, and visual functioning and quality of life were measured at baseline, 3 months, and 6 months of follow-up. Statistics were analyzed following the intention-to-treat principle. RESULTS: After 3 months of training, the CDVA of patients in the PL group improved as compared to the placebo group (0.17 ± 0.15 logMAR vs 0.02 ± 0.06 logMAR; P = .0006). Eight of 17 (47.06%) patients in the PL group reached CDVA improvement ≥2 lines (P = .0010). This improvement persisted for at least 6 months (from baseline) as compared to the placebo group (0.17 ± 0.17 logMAR vs 0.01 ± 0.07 logMAR; P = .0011). The increase in CSF in the PL group mainly was found for moderate spatial frequency (0.11 ± 0.17 log units at 3 cpd; 0.12 ± 0.19 log units at 6 cpd). Linear regression indicated that patients with worse initial CDVA achieved better gains in CDVA after PL (P = .009). No side effects were observed, and no subjects withdrew from the study because of training difficulties. CONCLUSIONS: Three-month PL improved vision in KC patients, and the improvement was maintained after 3 months of treatment cessation. The results indicate that PL may be a promising therapy for KC patients with unsatisfied spectacle-corrected visual acuity.

Effectiveness of surgical management of malignant glaucoma in phakic eyes.

AIM: To assess the effectiveness of core vitrectomy-phacoemulsification-intraocular lens (IOL) implantation-capsulo-hyaloidotomy in treating phakic eye at least 1mo after the onset of malignant glaucoma. METHODS: A retrospective analysis were performed on malignant glaucoma patients treated in Zhongshan Ophthalmic Center between 2016 and 2018. Demographic and clinical data were described. The preoperative and postoperative visual acuity (VA), intraocular pressure (IOP), number of IOP-lowering medications used, and anterior chamber depth (ACD) of the case series were compared by Wilcoxon signed-rank test. RESULTS: Thirteen phakic eyes with long time intervals between onset and surgery were identified in this case series. Core vitrectomy-phacoemulsification-IOL implantation-capsulo-hyaloidotomy reduced the IOP (P=0.046) and the number of IOP-lowering medications used (P=0.004), deepened the ACD (P=0.005). Complete success was achieved in 38.5% of the eyes, and anatomical success was achieved in 100% of the eyes without any recurrence. The only postoperative complication observed is corneal endothelial decompensation. It occurred in two cases. CONCLUSION: Core vitrectomy-phacoemulsification-IOL implantation-capsulo-hyaloidotomy is safe and effective for treatment of long onset phakic malignant glaucoma.

Novel mutation in OCRL leading to a severe form of Lowe syndrome.

AIM: To investigate the phenotype and genotype of a family with X-linked recessive Lowe syndrome. METHODS: All the members in the Chinese pedigree underwent comprehensive ophthalmologic and systemic examinations. Genomic DNA was isolated from peripheral blood of the pedigree members and 100 unrelated healthy Chinese subjects. Direct sequencing was performed to screen the exons and intron boundaries of OCRL. RESULTS: The ophthalmological and systemic examinations suggested that the affected individual had Lowe syndrome. The phenotype in the pedigree is severe and consistent among all the affected individuals except for an individual who additionally suffered from congenital heart disease and laryngeal cartilage dysplasia. Directional Sanger sequencing identified a complex mutation c.(2368_2368delG; c.2370A>C) in the Rho-GTPase activating protein domain. This complex mutation causes termination of protein synthesis at amino acid 824 and result in a new peptide with 823 amino acids (p.Ala790ProfsX34). This mutation was not detected in 100 unrelated healthy Chinese subjects. CONCLUSION: Our findings expand the phenotypic and genotypic spectrum of Lowe syndrome.