Yumiko Yokoi

Crystal deposits on the lens capsules in Bietti crystalline corneoretinal dystrophy associated with a mutation in the CYP4V2 gene

Purpose:  We report a patient (Case 1) with Bietti crystalline corneoretinal dystrophy (BCD) associated with previously unknown findings of crystal‐like deposits on the anterior and posterior lens capsules. This patient is one of four (Cases 1–4) in whom we have found BCD associated with the same mutation in the CYP4V2 gene.

A Novel Compound Heterozygous Mutation in the CYP4V2 Gene in a Japanese Patient with Bietti’s Crystalline Corneoretinal Dystrophy

Purpose: To describe the clinical and genetic characteristics of a Japanese family in which one member exhibited Bietti’s crystalline corneoretinal dystrophy (BCD). Methods: Using direct sequencing, mutation screening was performed in the CYP4V2 gene of both the patient with BCD and her daughter. Ophthalmic examinations were performed to determine the clinical features of both subjects. Results: The 64-year-old female patient had a bilateral visual acuity of 0.4. Slit lamp examination revealed bilateral crystalline-like deposits at the superior limbus of the cornea. Fundus examination revealed there was chorioretinal atrophy along with numerous glistening yellowish-white crystalline deposits that were scattered throughout the posterior pole and the mid-peripheral retina. Standard flash electroretinography showed an extinguished electroretinogram and Goldmann kinetic perimetry detected a relative scotoma. Genetic analysis revealed that the patient had a heterozygous mutation in the CYP4V2 gene (IVS6–8delTCATACAGGTCATCGCG/GC), which is the most commonly found mutation in Japanese patients with BCD. Furthermore, the patient was also shown to have a novel heterozygous point mutation in exon 9 of the CYP4V2 gene (c.1168C>T). In contrast, her daughter exhibited no clinical findings for BCD even though she carried the same heterozygous mutation in the CYP4V2 gene (c.1168C>T). Conclusion: A novel compound heterozygous mutation was found in the CYP4V2 gene of a patient with BCD. This previously unreported c.1168C>T mutation causes a missense mutation (p.R390C) in the CYP4V2 protein.

Effects of intravitreal injection of bevacizumab on inflammatory cytokines in the vitreous with proliferative diabetic retinopathy.

Background: To investigate the effects of preoperative intravitreal injection of bevacizumab (IVB) on the levels of 27 inflammatory cytokines, including interleukins (ILs) and vascular endothelial growth factor. Methods: From among 200 patients who had proliferative diabetic retinopathy and underwent vitrectomy in our department from September 2009 to October 2010, 8 study subjects met the enrollment criteria in which both eyes at nearly equivalent stages underwent vitrectomy. The first vitrectomy for each patient was performed without IVB (control group), whereas the second vitrectomy on the contralateral eye was performed with IVB treatment (1.25 mg/0.05 mL) 3 days before surgery (IVB group). Undiluted vitreous fluid was collected at the start of each vitrectomy. A multiplex assay was used to simultaneously determine the levels of 27 inflammatory cytokines and growth factors. Results: Mean vascular endothelial growth factor levels were significantly lower in the IVB group (519.69 pg/mL) than in the control group (11,807.44 pg/mL) (P = 0.012, Wilcoxon signed rank test). Moreover, the mean levels (IVB/control, pg/mL) of IL-1RA (38.50/62.31, P = 0.036), IL-5 (27.75/34.00, P = 0.018), IL-10 (433.63/1,995.94, P = 0.012), IL-12 (246.69/1,033.69, P = 0.012), IL-13 (707.50/1,450.38, P = 0.012), and interferon &ggr; (71.13/84.69, P = 0.036) were significantly lower in the IVB group. No other significant differences were observed in the levels of the other 20 cytokines and growth factors between the 2 groups. Conclusion: Preoperative IVB reduced not only the intravitreal vascular endothelial growth factor level but also the intravitreal levels of other inflammatory cytokines, including IL-1RA, IL-5, IL-10, IL-12, IL-13, and interferon &ggr;. These results indicate the interaction of some cytokines in the vitreous fluid of proliferative diabetic retinopathy patients and suggest the possibility that preoperative IVB may not only reduce vascular proliferation by its direct antivascular endothelial growth factor effect but also modulate the inflammatory response through putative cytokine networks. None of the other cytokines examined were elevated after IVB.

Characterization of the biological antioxidant potential in the vitreous fluid from patients with rhegmatogenous retinal detachment

pressure (r = 0.412, p = 0.042), and the normal saline guttae were correlated not with the opening pressure (r = 0.387, p = 0.101), but rather with the reopening pressure (r = 0.874, p < 0.001). Among the 19 patients, tube ligation (Kee 2001) was performed simultaneously with AGV implantation in two patients due to an intraoperative shallow anterior chamber. In another 17 patients, excluding the above two patients with tube ligation (mean age, 52.9 17.7 years; 13 men, four women; preoperative mean IOP, 41.8 9.5 mmHg; day 1 postoperative mean IOP, 9.6 5.4 mmHg) the reopening pressure and day 1 postoperative IOP showed a strong positive correlation (r = 0.715, p = 0.001) and the normal saline guttae correlated negatively with the day 1 postoperative IOP (Pearson’s correlation, r = 0.74 2, p = 0.001). Among the five patients with low (level-1) reopening pressure, four patients (80%) experienced hypotonic maculopathy (n = 1), shallow anterior chamber (n = 2) or choroidal effusion (n = 1). Hypotonic maculopathy and choroidal effusion regressed spontaneously. However, in two cases of anterior chamber shallowing, viscoelastic injection was required to resolve an iridocorneal touch. We suggest that careful subjective grading of the reopening pressure (when priming the tube) by an experienced surgeon is helpful in predicting early postoperative hypotonic complications. In addition, tube ligation may be useful to prevent hypotony-associated complications (Kee 2001). To confirm this possibility, a study with a larger patient population is necessary.

Changes in Intraocular Indocyanine Green Concentrations during Macular Hole Surgery

Purpose: To report changes in intraocular indocyanine green (ICG) concentration which was used for visualization of the internal limiting membrane (ILM) during vitreous surgery on 3 eyes of 3 patients with full-thickness macular hole. Methods: During intraocular surgery with ICG-assisted ILM peeling, aliquots of intraocular fluid obtained at 1 min after ICG administration (0.5 ml of 5 mg/ml ICG solution), before and after ILM peeling, and before and after fluid/gas exchange were subjected to spectrophotometric analysis. Results: Intravitreous concentrations of ICG were dramatically reduced to approximately 0.4 µg/ml during the surgery for macular hole in all cases. Conclusion: The present study indicates that the levels of remaining intraocular ICG concentrations after macular hole surgery are much lower than the levels that induced retinal toxicity in experimental models.