Renal coloboma syndrome/dominant optic atrophy with severe retinal atrophy and de novo digenic mutations in PAX2 and OPA1.

Renal coloboma syndrome (RCS) and dominant optic atrophy are mainly caused by heterozygous mutations in PAX2 and OPA1, respectively. We describe a patient with digenic mutations in PAX2 and OPA1. A female infant was born without perinatal abnormalities. Magnetic resonance imaging at 4 months of age showed bilateral microphthalmia and optic nerve hypoplasia. Appropriate body size was present at 2 years of age, and mental development was favorable. Color fundus photography revealed severe retinal atrophy in both eyes. Electroretinography showed slight responses in the right eye, but no responses in the left eye, suggesting a high risk of blindness. Urinalysis results were normal, creatinine-based estimated glomerular filtration rate was 63.5 mL/min/1.73 m2, and ultrasonography showed bilateral hypoplastic kidneys. Whole exome sequencing revealed de novo frameshift mutations in PAX2 and OPA1. Both variants were classified as pathogenic (PVS1, PS2, PM2) based on the guidelines from the American College of Medical Genetics and Genomics (ACMG). Genetic testing for ocular diseases should be considered for patients with suspected RCS and a high risk of total blindness.

One-year choroidal thickness changes after photodynamic therapy for central serous chorioretinopathy evaluated by widefield optical coherence tomography.

PURPOSE: To evaluate the changes in choroidal thickness 1 year after half-dose photodynamic therapy (PDT) for central serous chorioretinopathy (CSC) using widefield swept-source optical coherence tomography. METHODS: We retrospectively reviewed 21 patients with CSC who unilaterally underwent half-dose PDT and completed a 12-month follow-up. Choroidal thickness was evaluated before and after PDT within an 18-mm circular grid centered on the fovea subdivided into nine areas in the treated and untreated fellow eyes. RESULTS: All 21 treated eyes showed complete resolution of subretinal fluid at 3 months after PDT, without any recurrence at 12 months. The mean choroidal thickness in all nine areas significantly decreased after PDT at 3 months (P < 0.05) and remained unchanged at 12 months (P < 0.05) compared with that at baseline. However, the subtracted choroidal thickness maps between 3 and 12 months detected significant variations among the cases, classified into an enhanced pattern in 10 eyes (47.6%), an attenuated pattern in six eyes (28.6%), and a stable pattern in five eyes (23.8%). The 21 untreated fellow eyes also showed a decrease in mean choroidal thickness in three of the nine subdivided areas at 12 months (P < 0.05), but this decrease was limited posteriorly. CONCLUSION: The reduction in mean choroidal thickness after half-dose PDT for CSC was extensively maintained for 1 year. However, subclinical hemodynamic changes in the entire choroid occurred longitudinally even in the absence of disease recurrence.

CHANGES IN SCLERAL THICKNESS IN THE ACUTE PHASE OF VOGT-KOYANAGI-HARADA DISEASE.

PURPOSE: To evaluate changes in scleral thickness in Vogt-Koyanagi-Harada (VKH) disease. METHODS: This study included 34 eyes of 17 treatment-naïve patients with acute-phase VKH disease. Scleral thickness and the presence of ciliochoroidal effusion were examined using anterior segment optical coherence tomography at baseline and 1 week, 2 weeks, and 12 weeks after the start of corticosteroid treatment. Scleral thickness was measured 6 mm posterior to the scleral spur in four directions. RESULTS: Twenty-eight eyes (82.4%) initially had ciliochoroidal effusion, but this rapidly decreased to nine eyes (26.5%) after 1 week. The sclera with ciliochoroidal effusion became thinner from baseline to 1 week at the superior (400.2 ± 46.9-353.5 ± 47.9 µm), temporal (428.4 ± 53.6-387.8 ± 56.1 µm), inferior (451.5 ± 71.0-400.5 ± 50.5 µm), and nasal (452.4 ± 78.0-407.6 ± 62.9 µm) points (P < 0.01 for all), and no further changes were observed. The sclera without ciliochoroidal effusion remained unchanged. CONCLUSION: In VKH disease, eyes with ciliochoroidal effusion exhibited the maximum scleral thickness during the acute phase. This thickening responded rapidly to treatment and became thinner within 1 week. Inflammation in VKH disease may affect not only the choroid but also the sclera.

SCLERAL THICKNESS IN THE FELLOW EYES OF PATIENTS WITH UNILATERAL CENTRAL SEROUS CHORIORETINOPATHY.

PURPOSE: The sclera is reportedly thicker in eyes with central serous chorioretinopathy (CSC) than in healthy control eyes. We compared the scleral thicknesses of the affected and unaffected fellow eyes of patients with unilateral CSC. METHODS: We retrospectively examined the findings of 115 patients with unilateral CSC. Comparisons of the spherical equivalent, axial length, anterior chamber depth, subfoveal choroidal thickness, scleral thickness, and presence of peripheral ciliochoroidal effusion of the affected and fellow eyes were made. Using anterior segment optical coherence tomography, scleral thickness was measured vertically, 6 mm posterior to the scleral spur in the superior, temporal, inferior, and nasal directions. RESULTS: No significant differences in scleral thickness in all four directions, spherical equivalent, axial length, anterior chamber depth, and frequency of ciliochoroidal effusion were found between the affected and unaffected fellow eyes. The only significant difference between the affected and fellow eyes was observed in the subfoveal choroidal thickness (398.8 µ m vs. 346.6 µ m, P < 0.001). CONCLUSION: A thickened choroid seems to have a direct effect on CSC development. By contrast, the affected and fellow eyes showed no significant difference in scleral thickness, indicating that scleral thickening may be a predisposing factor for the development of CSC.

CILIOCHOROIDAL EFFUSION IN CENTRAL SEROUS CHORIORETINOPATHY.

PURPOSE: To investigate the prevalence of ciliochoroidal effusion (CE) in central serous chorioretinopathy (CSC) using anterior-segment optical coherence tomography and its association with the clinical features of CSC. METHODS: Overall, 164 eyes of 164 patients with CSC and 51 eyes of 51 age- and sex-matched normal control participants were retrospectively examined. Anterior-segment optical coherence tomography was used to assess patients with CSC and control subjects for CE and scleral thickness. Central serous chorioretinopathy eyes were divided into two groups: eyes with CE (CE group) and eyes without CE (non-CE group). Scleral thickness was measured at the point that was 6 mm posterior to the scleral spur in four directions. RESULTS: Among the 164 eyes with CSC, 32 eyes (19.5%) displayed CE, and this proportion was significantly higher than that in control subjects (2.0%) (P = 0.001). Scleral thickness was significantly greater in the CE group compared with the non-CE group at all four directions (P < 0.05 for all). Multivariable analysis revealed that the mean scleral thickness (odds ratio: 1.01; 95% confidence interval: 1.00-1.02; P = 0.007) was significantly associated with the incidence of CE. CONCLUSION: Central serous chorioretinopathy may accompany fluid accumulation in the anterior segment more frequently than previously expected in association with thick sclera.

Scleral Thickness in Simple Versus Complex Central Serous Chorioretinopathy.

PURPOSE: To evaluate the association between scleral thickness and a newly developed multimodal imaging-based classification of central serous chorioretinopathy (CSC). DESIGN: Retrospective, cross-sectional study. METHODS: This study included 217 eyes of 217 patients classified as simple or complex CSC based on the established protocols. Clinical and anatomical factors were compared between the 2 types. The scleral thickness was measured at 4 locations using anterior-segment optical coherence tomography. RESULTS: Of the 217 eyes, 167 were classified as simple CSC and 50 as complex CSC. The complex CSC group showed older age (P = .011), higher male ratio (P = .001), more bilateral involvement (P < .001), poorer visual acuity (P < .001), greater subfoveal choroidal thickness (P = .025), and higher frequency of loculation of fluid (P < .001) and ciliochoroidal effusion (P < .001) than the simple CSC group. The complex CSC group had significantly greater scleral thicknesses in the superior, temporal, inferior, and nasal directions (all P < .001) than the simple CSC group. Multivariable analysis revealed that older age (odds ratio [OR] 1.054, 95% confidence interval [CI] 1.013-1.097, P < .001), male sex (OR 10.445, 95% CI 1.151-94.778, P < .001), bilateral involvement (OR 7.641, 95% CI 3.316-17.607, P < .001), and the mean value of scleral thicknesses in 4 directions (OR 1.022, 95% CI 1.012-1.032, P < .001) were significantly associated with the complex CSC. CONCLUSIONS: Older age, male sex, bilateral involvement, and thick sclera were associated with the complex CSC. Scleral thickness seemed to determine the clinical manifestations of CSC.

Vogt-Koyanagi-Harada disease in a patient with extreme anisometropia.

Purpose: To report Vogt-Koyanagi-Harada (VKH) disease in a patient with extreme anisometropia. Observations: A 56-year-old woman was referred to our hospital. Her past medical history was significant for amblyopia in the right eye. At the initial visit, decimal best-corrected visual acuity (BCVA) was 0.03 (Snellen equivalent 5/160) in the right eye and 0.03 (Snellen equivalent 5/160) in the left eye, and axial length was 28.44 mm and 22.36 mm, respectively. Anterior chamber inflammation was seen predominantly in the right eye with fibrin exudates. Swept-source optical coherence tomography demonstrated choroidal thickening and folds predominantly in the left eye. Additionally, serous retinal detachment (SRD) was much more evident in the left eye than in the right eye. Subfoveal choroidal thickness (SCT) was 417 µm in the right and over 800 µm in the left eye. Cerebrospinal fluid examination revealed lymphocyte-dominant hypercellularity. Based on these findings, we diagnosed the patient with VKH disease and treated her with a high-dose systemic corticosteroid. One month after the initiation of treatment, SRD in both eyes fully resolved, and SCT decreased to 105 µm in the right and 311 µm in the left eye. Conclusions and Importance: The marked discrepancy in axial length between the right and left eyes might contribute to the different severity of inflammation in VKH disease.

Relationship Between Scleral Thickness and Choroidal Structure in Central Serous Chorioretinopathy.

Purpose: Central serous chorioretinopathy (CSC) is a retinal disorder characterized by serous retinal detachment with or without pigment epithelial detachment in the posterior pole of the eye. We aimed to elucidate the relationship between scleral thickness and choroidal structure in CSC eyes. Methods: This single-center retrospective study included 111 eyes of 111 CSC patients. Using swept-source optical coherence tomography, the horizontal cross-sectional images of the posterior choroid were converted to binary images by semiautomated software. The luminal and stromal areas of the choroid were measured, and the luminal/stromal (L/S) ratios of the whole choroid (WC), inner choroid, and outer choroid (OC) at 1500 µm, 3000 µm, and 7500 µm ranges centered on the fovea were calculated. Correlations of L/S ratio and age, spherical equivalent, axial length, subfoveal choroidal thickness (SCT), and scleral thickness were determined. Scleral thickness was measured vertically, 6 mm posterior to the scleral spur in four directions. Results: SCT and mean scleral thickness were significantly positively correlated with the L/S ratio in all ranges of WC and OC. Multiple regression analysis found that SCT and mean scleral thickness were significantly correlated with the L/S ratio, and the strength of correlation of mean scleral thickness (WC: 0.386, P < 0.001; OC: 0.391, P < 0.001) was greater than that of SCT (WC: 0.368, P < 0.001; OC: 0.383, P < 0.001) in 7500 µm range. Conclusions: Thick sclera appeared to play a role in an increase in the luminal component of the posterior choroid in CSC eyes.

Scleral Thickness in Steroid-Induced Central Serous Chorioretinopathy.

Purpose: To evaluate and compare the scleral thickness of patients with idiopathic central serous chorioretinopathy (iCSC) and steroid-induced central serous chorioretinopathy (sCSC) using anterior-segment OCT. Design: Retrospective, comparative study. Participants: One hundred ten eyes of 110 patients with central serous chorioretinopathy. Methods: We classified the patients into iCSC and sCSC groups and compared age, sex, spherical equivalent, axial length, subfoveal choroidal thickness (SCT), and scleral thickness. We measured scleral thickness 6 mm posterior to the scleral spur in 4 directions. Main Outcome Measure: Scleral thickness in sCSC eyes. Results: We enrolled 96 and 14 eyes in the iCSC and sCSC groups, respectively. The sCSC group included a greater proportion of women than the iCSC group (42.9% and 13.5%, respectively; P = 0.020). We observed no between-group differences in age, spherical equivalent, axial length, or SCT. Univariate analysis revealed that the sCSC group had a significantly thinner sclera at the superior (423.4 µm vs. 346.6 µm; P < 0.001), temporal (440.1 µm vs. 399.4 µm; P = 0.020), inferior (450.1 µm vs. 395.3 µm; P = 0.001), and nasal (436.6 µm vs. 391.9 µm; P = 0.002) points than the iCSC group. Multivariate analyses revealed that female sex (odds ratio, 4.322; 95% confidence interval, 1.025-18.224; P = 0.046) and mean scleral thickness (odds ratio, 0.972; 95% confidence interval, 0.955-0.990; P = 0.002) were significantly associated with sCSC. Conclusions: The scleral thickness of eyes in the sCSC group was significantly thinner than that in the iCSC group. This suggests that the sclera has less involvement in the pathogenesis of sCSC than in that of iCSC.

Clinical Factors Related to Loculation of Fluid in Central Serous Chorioretinopathy.

PURPOSE: To elucidate clinical factors related to the presence of loculation of fluid (LOF) in the posterior choroid in central serous chorioretinopathy (CSC). DESIGN: Retrospective, cross-sectional study. METHODS: This single-center study included 158 eyes from 158 patients with CSC who were classified into LOF and non-LOF groups. The groups were compared for age, sex, spherical equivalent, axial length, subfoveal choroidal thickness (SCT), and scleral thickness. Using swept-source optical coherence tomography (OCT), we determined the presence of LOF based on B-scan and en face images. Scleral thickness was measured 6 mm posterior to the scleral spur in 4 directions using anterior-segment OCT. RESULTS: The 158 eyes were classified into 98 eyes in the LOF group and 60 eyes in the non-LOF group. In univariable analyses, the LOF group was younger (P = .01) and had a higher male ratio (P = .03) and greater SCT (P < .001) than the non-LOF group. All scleral thicknesses at the superior, temporal, inferior, and nasal points were greater in the LOF group than in the non-LOF group (426.2 vs 395.1 µm, 445.7 vs 414.9 µm, 459.2 vs 428.8 µm, 445.4 vs 414.3 µm, all P < .05). Multivariable analyses found that SCT (odds ratio [OR] 1.02, 95% CI 1.01-1.02, P < .001) and mean scleral thickness (OR 1.02, 95% CI 1.02-1.03, P = .002) were significantly associated with the presence of LOF. CONCLUSION: A thick choroid and thick sclera appeared to be related to the presence of LOF in CSC.

Rapid formation of macular pucker following intravitreal ranibizumab injection for branch retinal vein occlusion.

PURPOSE: To report a case of branch retinal vein occlusion (BRVO) in which rapid formation of macular pucker was observed after an intravitreal ranibizumab (IVR) injection. OBSERVATIONS: A 66-year-old patient was referred to our department for the treatment of macular edema (ME) secondary to BRVO in the left eye. On the initial visit, widespread retinal hemorrhage was observed around the superior temporal vascular arcade, and the decimal best-corrected visual acuity (BCVA) was 0.7 (Snellen equivalent 20/29) in the left eye. Optical coherence tomography demonstrated a thin epiretinal membrane (ERM) accompanied by diffuse retinal thickening. A 0.5 mg IVR injection was administered for the treatment of ME and prompt resolution of retinal hemorrhage. Fourteen days after IVR administration, the ERM had progressed remarkably into a macular pucker and had spread from the superior macula to the equator, accompanied by partial tractional retinal detachment. We performed pars plana vitrectomy combined with encircling scleral buckling. Three months after the surgery, the decimal BCVA was 0.4 (Snellen equivalent 20/50), the retina was attached, and no recurrence of ME or proliferation was observed. CONCLUSIONS AND IMPORTANCE: IVR for BRVO may cause rapid formation of macular pucker in the eye, especially in the presence of pre-existing ERM. Careful observation of patients with BRVO is essential after administration of anti-VEGF agents, especially in eyes with pre-existing ERM.

Short Axial Length Is Related to Asymmetric Vortex Veins in Central Serous Chorioretinopathy.

Purpose: To investigate the clinical and morphologic factors related to asymmetric dilated vortex veins in central serous chorioretinopathy (CSC). Design: Retrospective, comparative study. Participants: One hundred fifty-eight eyes of 158 patients with CSC. Methods: All patients with CSC underwent ophthalmic examination and multimodal imaging, including measurements of axial length (AL), fluorescein angiography, indocyanine green angiography, swept-source OCT, and anterior segment OCT. Using en face OCT images at the level of the outer choroid, the eyes were divided into 2 groups: eyes with symmetric vortex veins (symmetry group) and those with asymmetric vortex veins (asymmetry group). Main Outcome Measures: Clinical and morphologic factors related to asymmetric vortex veins in CSC. Results: Of the 158 eyes, 120 eyes (75.9%) were classified into the asymmetry group and 38 eyes (24.1%) were classified into the symmetry group. The asymmetry group showed significantly greater spherical equivalent (-0.32 ± 1.78 diopters [D] vs. -1.35 ± 2.64 D; P = 0.033), shorter AL (23.52 ± 0.86 mm vs. 24.10 ± 1.06 mm; P = 0.005), and greater subfoveal choroidal thickness (414.6 ± 105.3 µm vs. 360.4 ± 91.8 µm; P = 0.005) than the symmetry group. No significant differences existed between the 2 groups regarding age, sex, or all scleral thicknesses at the superior, temporal, inferior, and nasal points. In the multivariate analyses, shorter AL (odds ratio, 0.56; 95% confidence interval, 0.36-0.88; P = 0.011) was found to be significantly associated with the presence of asymmetric vortex veins. Conclusions: The asymmetric dilated vortex vein is a common finding in patients with CSC. Our results suggest that certain biometric factors, such as short AL, may be associated with asymmetric dilated vortex veins developing in patients with CSC.

Scleral Thickness in Central Serous Chorioretinopathy.

PURPOSE: To evaluate scleral thickness in central serous chorioretinopathy (CSC) using anterior segment (AS) OCT. DESIGN: Retrospective, comparative study. PARTICIPANTS: Forty-seven eyes of 40 patients with CSC and 53 eyes of 47 age- and gender-matched normal control participants. METHODS: Spherical equivalent, axial length, subfoveal choroidal thickness, and scleral thickness were compared between the CSC and control groups. Scleral thickness was measured by AS OCT 6 mm posterior to the scleral spur in 4 directions. MAIN OUTCOME MEASURE: Scleral thickness in CSC eyes. RESULTS: No differences were found between the 2 groups in age, gender, spherical equivalent, or axial length. Subfoveal choroidal thickness was significantly greater in CSC eyes than in normal control eyes (424.0 ± 101.4 µm vs. 324.3 ± 91.8 µm; P < 0.001). Scleral thickness was significantly greater in CSC eyes than in normal control eyes at the superior (429.4 ± 50.3 µm vs. 395.2 ± 55.4 µm; P = 0.005), temporal (447.7 ± 45.7 µm vs. 396.5 ± 64.1 µm; P < 0.001), inferior (455.7 ± 81.2 µm vs. 437.8 ± 46.9 µm; P = 0.022), and nasal (454.9 ± 44.7 µm vs. 416.6 ± 51.2 µm; P = 0.001) points. CONCLUSIONS: Scleral thickness measured by AS OCT was significantly greater in CSC eyes than in normal control eyes, although no differences were found in spherical equivalent or axial length. Thick sclera may have a role in the pathogenesis of CSC.