A case of WAGR syndrome in association with developmental glaucoma requiring bilateral Baerveldt glaucoma implants and subsequent tube repositioning

Glaucoma drainage device implantation is efficacious for the treatment of pediatric glaucoma patients when multiple angle surgeries fail. However, tube touching of the corneal endothelium is one of the major postoperative complications to deal with. A 15-month-old male patient with Wilms’ tumor, aniridia, genitourinary anomalies, and mental retardation (WAGR) syndrome was diagnosed with bilateral developmental glaucoma. He underwent Baerveldt glaucoma implant (BGI) surgeries in both eyes after multiple failed trabeculotomies. The tube in his right eye was touching the cornea 15 months after BGI surgery. To avoid corneal endothelium damage, BGI tube repositioning with scleral fixation was performed without serious complications. The bilateral BGI surgeries achieved successful intraocular pressure reduction for over 2 years and tube repositioning with scleral fixation of BGI tube was successful for BGI tube malposition. Although careful attention to intraocular pressure and tube malposition is essential after glaucoma drainage device implantation, especially in pediatric cases, BGI surgery is effective in the management of developmental glaucoma following unsuccessful angle surgeries

Pachychoroid neovasculopathy and age-related macular degeneration.

Pachychoroid neovasculopathy is a recently proposed clinical entity of choroidal neovascularization (CNV). As it often masquerades as neovascular age-related macular degeneration (AMD), it is currently controversial whether pachychoroid neovasculopathy should be distinguished from neovascular AMD. This is because its characteristics have yet to be well described. To estimate the relative prevalence of pachychoroid neovasculopathy in comparison with neovascular AMD and to investigate the phenotypic/genetic differences of the two diseases, we evaluated 200 consecutive Japanese patients who agreed to participate in the genetic study and diagnosed with pachychoroid neovasculopathy or neovascular AMD. Pachychoroid neovasculopathy was observed in 39 individuals (19. 5%), which corresponds to one fourth of neovascular AMD. Patients with pachychoroid neovasculopathy were significantly younger (p = 5. 1 × 10[−5]) and showed a greater subfoveal choroidal thickness (p = 3. 4 × 10[−14]). Their genetic susceptibility to AMD was significantly lower than that of neovascular AMD; ARMS2 rs10490924 (p = 0. 029), CFH rs800292 (p = 0. 013) and genetic risk score calculated from 11 AMD susceptibility genes (p = 3.8 × 10[−3]). Current results implicate that the etiologies of the two conditions must be different. Thus, it will be necessary to distinguish these two conditions in future studie

Association of SIX1/SIX6 locus polymorphisms with regional circumpapillary retinal nerve fibre layer thickness: The Nagahama study

SIX1 and SIX6 are glaucoma susceptibility genes. Previous reports indicate that the single nucleotide polymorphism (SNP) rs33912345 in SIX6 is associated with inferior circumpapillary retinal nerve fibre layer (cpRNFL) thickness (cpRNFLT). Although the region of visual field defect in glaucoma patients is directly related to cpRNFL thinning, a detailed sector analysis has not been performed in genetic association studies. In the present study, we evaluated 26 tagging SNPs in the SIX1/SIX6 locus ±50 kb region in a population of 2, 306 Japanese subjects with 4- and 32-sector cpRNFLT analysis. While no SNPs showed a significant association with cpRNFLT in the 4-sectored analysis, the finer 32-sector assessment clearly showed a significant association between rs33912345 in the SIX1/SIX6 locus with inferior cpRNFL thinning at 292.5–303.8° (β = −4.55, P = 3.0 × 10−5). Furthermore, the fine-sectored cpRNFLT analysis indicated that SIX1/SIX6 polymorphisms would affect cpRNFL thinning at 281.3–303.8°, which corresponds to parafoveal scotoma in a visual field test of glaucoma patients

Choroidal vasculature in bietti crystalline dystrophy with CYP4V2 mutations and in retinitis pigmentosa with EYS mutations

Purpose: We compare the choroidal vascular area between Bietti crystalline dystrophy (BCD) patients with CYP4V2 mutations, retinitis pigmentosa (RP) patients with EYS mutations, and normal controls, and investigate the correlation between choroidal vascular area and associated parameters. Methods: This prospective case-series study included consecutive nine eyes of nine BCD patients with CYP4V2 mutations (BCD group), 16 eyes of 16 RP patients with EYS mutations (EYS-RP group), and 16 eyes of 16 normal volunteers matched for age and axial length (control group). Using swept-source optical coherence tomography, we obtained en face images of the choroidal vasculature at the midpoint of the choriocapillaris layer--Sattler's layer (inner choroid) and Haller's layer (outer choroid). After binarization, we compared the inner and outer choroidal vascular areas among the three groups and identified associated factors. Results: The outer choroidal vascular area was 43.34 ± 5.76%, 53.73 ± 4.92%, and 52.80 ± 4.10% in the BCD, EYS-RP, and control groups, respectively. This value was significantly smaller in the BCD group than in the EYS-RP and control groups (P < 0.001 in both; no significant difference between the EYS-RP and control groups). In the BCD group, the outer choroidal vascular area was correlated strongly with the subfoveal inner choroidal thickness (P = 0.001, r = 0.91, respectively). The inner choroidal vasculature could not be identified in eight of nine eyes in the BCD group. Conclusions: The outer choroidal vascular narrowing might progress with the inner choroidal thinning in BCD, and the inner choroidal vasculature might be extinguished in advanced-stage BCD. Our findings may help to clarify the etiology of BCD

CFHandVIPR2as susceptibility loci in choroidal thickness and pachychoroid disease central serous chorioretinopathy

中心性漿液性網脈絡膜症に関わる遺伝子変異を発見 --日本人に多い特殊なタイプの加齢黄斑変性の原因も解明--. 京都大学プレスリリース. 2018-05-31.Central serous chorioretinopathy (CSC) is a common disease affecting younger people and may lead to vision loss. CSC shares phenotypic overlap with age-related macular degeneration (AMD). As recent studies have revealed a characteristic increase of choroidal thickness in CSC, we conducted a genome-wide association study on choroidal thickness in 3, 418 individuals followed by TaqMan assays in 2, 692 subjects, and we identified two susceptibility loci: CFH rs800292, an established AMD susceptibility polymorphism, and VIPR2 rs3793217 (P = 2.05 × 10−10 and 6.75 × 10−8, respectively). Case–control studies using patients with CSC confirmed associations between both polymorphisms and CSC (P = 5.27 × 10−5 and 5.14 × 10−5, respectively). The CFH rs800292 G allele is reportedly a risk allele for AMD, whereas the A allele conferred risk for thicker choroid and CSC development. This study not only shows that susceptibility genes for CSC could be discovered using choroidal thickness as a defining variable but also, deepens the understanding of differences between CSC and AMD pathophysiology

近視関連遺伝子群と日本人コホートにおける屈折異常との関係の網羅的再現性検証

京都大学0048新制・課程博士博士(医学)甲第20278号医博第4237号新制||医||1021(附属図書館)京都大学大学院医学研究科医学専攻(主査)教授 森田 智視, 教授 佐藤 俊哉, 教授 中山 健夫学位規則第4条第1項該当Doctor of Medical ScienceKyoto UniversityDFA

Age-related change and sex difference over 60s in disc-fovea angle in Japanese population: the Nagahama Study

Purpose: To analyse the disc-fovea angle (DFA) by age group and to compare sex differences in each age group in a large cohort population. Methods: This community-based cross-sectional cohort study included 9682 eyes of 9682 volunteers (aged 30–75 years). We measured the DFA, which is the angle between a horizontal line and a line connecting the fovea with the centroid of an optic disc on fundus photographs of the right eye. We manually marked the fovea and surrounded the optic disc. The centroid of an optic disc and the DFA was automatically calculated using originally developed software. We compared the DFA between age groups in 10-year increments and investigated sex differences of DFA in each age group. Results: Overall mean DFA was 6.32 ± 3.53°. The DFA of older subjects was significantly larger than that of younger subjects (p < 0.001). The DFA of women was larger than that of men in their 60s and 70s (p < 0.001 for both), but not in subjects in their 30s, 40s and 50s. Conclusion: Larger DFA in women than in men in their 60s and 70s suggests the possibility that age-related excyclo-shift occurs more easily in postmenopausal women compared to men of the same age

Predictive factors for corrective effect of inferior rectus recession for congenital superior oblique palsy

[Purpose]To identify preoperative factors associated with the surgical corrective effect of contralateral inferior rectus recession (IRR) for vertical deviation in patients with congenital superior oblique palsy (SOP). [Methods]This retrospective study included 20 treatment-naïve patients with unilateral congenital SOP (age range, 6–79 years) who underwent contralateral IRR according to our basic policy to select IRR for paretic eye fixation. The corrective effect (°/mm) of IRR was defined as the difference in the vertical deviation at the primary gaze position between before and 6–18 months after surgery per distance of recession. We also measured the preoperative vertical deviation at primary and secondary gaze positions, and vertical deviation with head-tilting, and calculated the difference in vertical deviation between these positions. We analyzed the correlation between the corrective effect of IRR and these study parameters. [Results]The mean corrective effect of IRR was 2.4 ± 1.6°/mm, which had a significant correlation with preoperative differences in vertical deviation between the primary gaze position and the downward (P = 0.004, r = −0.61) and contralateral gaze positions (P = 0.03, r = −0.48); and the presence of preoperative stereopsis (P = 0.02, r = −0.51). After excluding a statistical outlier, the correlation between the corrective effect and the difference between the primary and contralateral gaze positions was no longer significant (P = 0.07), while the other two relationships remained significant. [Conclusions]Our findings suggest that preoperative differences in vertical deviation between the primary and downward gaze positions and the presence of preoperative stereopsis are important considerations prior to performing IRR for congenital SOP, particularly with paretic eye fixation