Quantitative analysis of the eyelid curvature in patients with blepharoptosis.

BACKGROUND: The aim of this study was to evaluate the ability of two novel eyelid curvature measurements to distinguish between normal eyes and different severities of blepharoptosis. METHODS: A comparative cross-sectional analysis of upper eyelid curvature was performed for different severities of patients with unilateral blepharoptosis (congenital and aponeurotic) and normal controls. Mean upper lid contour index (ULCI) and area circularity index (ACI) were calculated for each group by dividing the intercanthal distance by upper eyelid margin length (ULCI) and dividing the interpalpebral area by the area of a circle enclosing the eye (ACI). The ratio of each index for the study and fellow normal eye of each patient was also calculated and compared between groups. RESULTS: A total of 106 eyes including 30 eyes in the control group and 25, 27, and 24 eyes in the mild, moderate, and severe ptosis groups were enrolled in the study. ULCI and ACI showed a statistically significant difference between the groups (p < 0.001, p < 0.001). The inter-eye ratio (ULCI-ratio and ACI-ratio) of indices was also significantly different between groups (p = 0.002, p < 0.001). Pairwise comparisons revealed that ACI and ACI-ratio were significantly different between all pairs of study groups. CONCLUSION: The results of our study showed that ACI based on area measurements may distinguish blepharoptosis patients from normal controls and from each other. Including the data from the fellow normal eyes in the form of ratio indices may improve the differentiating power. These results can be useful in designing the optimal eyelid curvature measurements.

Addition of intravitreal carboplatin with melphalan for management of vitreous seeding in retinoblastoma.

PURPOSE: To evaluate the efficacy and toxicity of intravitreal carboplatin plus melphalan for the treatment of vitreous seeds in eyes with retinoblastoma (RB). METHODS: This retrospective series at a tertiary referral center included 22 consecutive RB patients who had received intravitreal carboplatin (16 µg per 0.05 ml) combined with melphalan (30 µg in 0.03 ml) [IVi (Ca-Me)] for treatment of vitreous seeds. Tumor control and drug toxicities were recorded. RESULTS: There were 22 eyes of 22 patients, divided into primary group (n = 13) without history of previous intravitreal chemotherapy (IViC) and refractory group (n = 9) with history of previous IViC using melphalan and/or topotecan. The demographics and clinical findings of the primary and refractory groups did not differ significantly. The 6-month follow-up revealed complete vitreous seed control (77% vs. 89%, p = 0.47). Vitreous seed recurrence was detected in 1 eye of each group at 6 months. During the next 18-month follow-up period, no recurrence of seed was observed. The response to IVi (Ca-Me) was not significantly influenced by previous IViC (p = 0.70), primary systemic or intra-arterial chemotherapy (p = 0.45), or the type of regression (p = 0.35). The most common tumor treatment complications were retinal detachment (RD) (n = 2), early hypotony (n = 2) and late hypotony (n = 4, unrelated), cataract (n = 2), and severe pigment dispersion (n = 1). Enucleation was performed in 8 eyes, for total RD (n = 1), phthisis bulbi (n = 5), and extensive solid tumor recurrence (n = 2). There was no case of orbital invasion, systemic metastasis, or death. CONCLUSION: Based on this interventional case series for primary and refractory vitreous RB seeds, carboplatin plus melphalan therapy may be effective with few toxic side effects.

Automated machine learning-based classification of proliferative and non-proliferative diabetic retinopathy using optical coherence tomography angiography vascular density maps.

PURPOSE: The study aims to classify the eyes with proliferative diabetic retinopathy (PDR) and non-proliferative diabetic retinopathy (NPDR) based on the optical coherence tomography angiography (OCTA) vascular density maps using a supervised machine learning algorithm. METHODS: OCTA vascular density maps (at superficial capillary plexus (SCP), deep capillary plexus (DCP), and total retina (R) levels) of 148 eyes from 78 patients with diabetic retinopathy (45 PDR and 103 NPDR) was used to classify the images to NPDR and PDR groups based on a supervised machine learning algorithm known as the support vector machine (SVM) classifier optimized by a genetic evolutionary algorithm. RESULTS: The implemented algorithm in three different models reached up to 85% accuracy in classifying PDR and NPDR in all three levels of vascular density maps. The deep retinal layer vascular density map demonstrated the best performance with a 90% accuracy in discriminating between PDR and NPDR. CONCLUSIONS: The current study on a limited number of patients with diabetic retinopathy demonstrated that a supervised machine learning-based method known as SVM can be used to differentiate PDR and NPDR patients using OCTA vascular density maps.

Automated assessment of the smoothness of retinal layers in optical coherence tomography images using a machine learning algorithm.

Quantifying the smoothness of different layers of the retina can potentially be an important and practical biomarker in various pathologic conditions like diabetic retinopathy. The purpose of this study is to develop an automated machine learning algorithm which uses support vector regression method with wavelet kernel and automatically segments two hyperreflective retinal layers (inner plexiform layer (IPL) and outer plexiform layer (OPL)) in 50 optical coherence tomography (OCT) slabs and calculates the smoothness index (SI). The Bland-Altman plots, mean absolute error, root mean square error and signed error calculations revealed a modest discrepancy between the manual approach, used as the ground truth, and the corresponding automated segmentation of IPL/ OPL, as well as SI measurements in OCT slabs. It was concluded that the constructed algorithm may be employed as a reliable, rapid and convenient approach for segmenting IPL/OPL and calculating SI in the appropriate layers.

Pars plana vitrectomy combined with phacoemulsification versus pars plana vitrectomy only for treatment of phakic rhegmatogenous retinal detachment: a systematic review and meta-analysis.

PURPOSE: To compare the visual, refractive, and anatomical outcomes and incidence of complications between combined pars plana vitrectomy and phacoemulsification (phacovitrectomy) versus pars plana vitrectomy (PPV-only) in phakic eyes with rhegmatogenous retinal detachment (RRD). METHODS: Two independent reviewers searched MEDLINE, Cochrane Central, and Web of Science to identify relevant articles. Prospective or retrospective studies comparing PPV-only and phacovitrectomy for RRD were included. Recruited studies provided information about at least anatomical success or refractive outcomes. Meta-analysis was performed for single surgery success rate, final best-corrected visual acuity (BCVA), postoperative complications, mean predicted refractive error, and mean absolute predicted refractive error. RESULTS: Seven studies (788 eyes) were selected, including two clinical trials and five retrospective comparative case series. The single surgery success rate was similar in PPV-only and phacovitrectomy groups (risk ratio [RR] = 1.02; 95% confidence interval [CI] 0.95-1.10; P = 0.57). Mean final BCVA was significantly better in the PPV-only group than the phacovitrectomy group (MD = 0.06; 95% CI 0.00-0.12; P = 0.04). The risk of epiretinal membrane formation was significantly higher in eyes that underwent phacovitrectomy than PPV-only (RR = 2.85; 0.95% CI 1.5-5.41; P = 0.001). Phacovitrectomy group showed a more myopic final mean predicted refractive error than PPV-only group (MD = -0.31; 95% CI -0.55--0.07; P = 0.01). CONCLUSION: There was no significant difference between the two groups regarding the anatomical outcome. Slightly better visual and refractive results were observed in the PPV-only group. However, the results should be interpreted with caution as the majority of included studies were low-quality retrospective studies.

Sector area index: a novel supporting marker for blepharoptosis screening and grading.

PURPOSE: To introduce a new supporting marker for discriminating different grades of ptosis called Sector Area Index (SAI) and a semi-automated technique to calculate it. METHODS: In this cross-sectional comparative case series, a circle enclosing the intercanthal distance was automatically drawn after choosing two points as the medial and lateral canthus and manually selecting the palpebral fissure region. Finally, 15-degree apart sectors are applied to the enclosed circle. SAI was measured automatically by dividing the area of each 15-degree sector marked with the upper eyelid contour by the total area of the sector marked with the edge of the surrounding circle. SAI values and inter-eye SAI differences were compared between patients with different grades of ptosis as well as normal patients. RESULTS: In the current study, 106 eyes were recruited (30, 25, 27, and 24 in the control, mild, moderate, and severe ptosis groups, respectively). Mean values of SAI in all sectors showed a decreasing trend from normal individuals toward patients with severe ptosis. The mean difference values of SAI between study eyes and fellow eyes in all four groups of patients showed a statistically significant difference (p < 0.05). In a pairwise comparison between groups, mean values of SAI in all nasal sectors from 15° to 60° showed a statistically significant difference between all groups (p < 0.05). CONCLUSION: The mean difference of SAI between study eyes and fellow eyes, including eyelid curvature, especially in 15°-60° and 120°-165° sectors, can demonstrate differentiating performance for detecting and discriminating varying grades of ptosis.

Post-intravitreal injection endophthalmitis pattern during the COVID-19 pandemic with implementation of patients' masking.

PURPOSE: To evaluate the role of patient facial masks on the occurrence of post-intravitreal injection (IVI) endophthalmitis in a real-word setting. METHODS: In this retrospective cohort, patients receiving IVIs between 20 February 2019 and 20 February 2021; a 12-month period before the official beginning of COVID-19 epidemic in Iran and a 12-month period thereafter were included. In the pre-COVID era, patients underwent IVI without a facial mask while in the COVID era patients wore an untaped facial mask. Physicians and staff had facial mask in both periods. IVIs were administered in a dedicated operating room without a strict no talk-policy. The main outcome measure was the rate of post-IVI endophthalmitis. RESULTS: A total number of 53,927 injections was performed during the study period: 34,277 in pre-COVID and 19,650 in COVID periods; with a 42.7% decrease in the number of injections. Endophthalmitis occurred in 7 eyes (0.020%) in pre-COVID and 7 eyes (0.036%) in COVID era (p = 0.40). In multivariate analysis, after adjustment for intercorrelations between the eyes and multiple injections in one patient, there was no statistically significant association between wearing facial masks by the patients and risk of endophthalmitis (relative risk = 1.47, 95% confidence interval of 0.97-2.22; p = 0.071). CONCLUSION: Patients' facial masking is not associated with an increased risk of post-injection endophthalmitis.

Alterations in choroidal vascular parameters following panretinal photocoagulation using enhanced-depth imaging optical coherence tomography in diabetic retinopathy.

PURPOSE: To investigate the alteration of choroid in patients with very severe non-proliferative diabetic retinopathy (NPDR) or early proliferative diabetic retinopathy (PDR) following panretinal photocoagulation (PRP). METHODS: Thirty-nine eyes of 21 patients with very severe non-proliferative diabetic retinopathy (NPDR) (19 eyes) and early proliferative diabetic retinopathy (PDR) (20 eyes) were recruited. Enhanced-depth imaging optical coherence tomography at baseline, 1, and 6 months after PRP was employed to measure choroidal parameters including total choroidal area (TCA) and choroidal vascular index (CVI). RESULTS: In eyes with very severe NPDR, subfoveal TCA decreased non-significantly at month 1, which increased significantly at month 6 (539 ± 131µm2, 502 ± 134µm2, and 598 ± 168µm2 at baseline and months 1 and 6, respectively; P = 0.003). Subfoveal CVI increased at month 1 and then decreased at month 6 (68.25 ± 3.05, 69.74 ± 3.62, and 67.84 ± 1.77 at baseline and months 1 and 6, respectively; P < 0.001). A reverse pattern occurred in eyes with early PDR, a non-significant increase in TCA at month 1 followed by a decrease at month 6 (497 ± 95µm2, 514 ± 133µm2, and 425 ± 95µm2 at baseline and months 1 and 6, respectively; P = 0.011). CVI decreased at month 1 and remained relatively stable at month 6 (69.34 ± 3.11, 68.33 ± 3.41, and 68.50 ± 5.04 at baseline, and months 1 and 6, respectively; P = 0.023). Alteration of choroidal thickness was not statistically significant in both groups. CONCLUSION: Eyes with very severe NPDR and early PDR exhibit a reverse pattern regarding choroidal indices after PRP.

Intravitreal bevacizumab to treat retinopathy of prematurity in 865 eyes: a study to determine predictors of primary treatment failure and recurrence.

PURPOSE: This study aimed to evaluate the rate and risk factors for primary failure and recurrence after intravitreal anti-VEGF injection in retinopathy of prematurity (ROP). METHODS: This retrospective study was performed on 865 eyes from 441 patients with retinopathy of prematurity receiving intravitreal bevacizumab from 2012 to 2019. Medical records of patients were evaluated. RESULTS: Mean gestational age (GA) and birth weight of patients were 28 ± 2 weeks and 1121 ± 312 g, respectively. Thirty-five eyes (4.04%) had a primary failure, including 18 eyes from 187 eyes in zone 1 (9.6%) and 17 eyes from 678 eyes in zone 2 (2.5%). The mean time of retreatment was 16.64 ± 13.68 days in eyes without regression ROP. The remaining 830 eyes (95.95%) were included in recurrence analysis. The recurrence occurred in 33 eyes (3.97%) of them in 20 patients, with the meantime of 77.52 days after the first treatment (IVB). The presence of plus disease, history of oxygen therapy or phototherapy, and GA less than 32 were associated with significantly increased prevalence of treatment failure. The risk factors predicting recurrence are lower birth weight, zone 1 pretreatment, history of intubation, anemia, and sepsis. CONCLUSION: Intravitreal anti-VEGF is a successful treatment for ROP with a low rate of primary failure and recurrence. Awareness of risk factors for treatment failure and recurrence may help clinicians to schedule more vigilant approach in susceptible cases.

Spatial distribution of diabetic capillary non-perfusion.

OBJECTIVE: To evaluate the distribution of capillary non-perfusion (CNP) in superficial and deep capillary plexuses (SCP and DCP) in eyes with diabetic retinopathy (DR). METHODS: In this retrospective case series, macular optical coherence tomography angiography (OCTA) images were obtained from eyes with DR without diabetic macular edema (DME). The area of CNP in SCP and DCP was delineated using an automated approach after excluding the foveal avascular zone (FAZ) and major retinal vessels. The distribution and spatial correlation of the CNP in each layer were analyzed. RESULTS: Forty-three eyes of 27 patients with DR with a mean age of 59.10 ± 9.05 years were included. The mean CNP area in SCP was statistically significantly higher than DCP (0.722 ± 0.437 mm2 vs. 0.184 ± 0.145 mm2 , respectively, p < .001). There was a statistically significant association between mean BCVA (0.28 ± 0.21 logMAR) and CNP area in DCP (p = .01). After automated subtraction of CNP areas in DCP from SCP, 25.43 ± 15.05% of CNP areas in the DCP had co-localized CNP areas in SCP. The CNP percentage was statistically significantly different between the concentric rings on foveal center, both in SCP and in DCP (both p < .001) showing a decreasing trend from the outer ring toward the center. CONCLUSION: In DR, SCP is more ischemic than DCP. This is in contrast to the previously described oxygenation-dependent ischemic cascade following acute retinal vascular occlusions. This study provides further insight into the retinal ischemia in DR.

SPOAN syndrome: a novel mutation and new ocular findings; a case report.

BACKGROUND: To report a novel mutation and new clinical findings in a case with SPOAN syndrome (spastic paraplegia, optic atrophy, neuropathy). CASE PRESENTATION: Clinical examination, genetic testing and electroretinography were used to study a 2-year-old child who was referred to our clinic with no visual attention and documented SPOAN syndrome. Fundoscopy revealed optic atrophy, diffuse retinal pigment mottling, severe vascular attenuation, and completely non-vascularized peripheral retina in both eyes. Full-field electroretinogram (ERG) revealed flat responses. CONCLUSIONS: Severe retinopathy and flat full-field ERG responses can occur in SPOAN syndrome.

Evaluation of radiation maculopathy after treatment of choroidal melanoma with ruthenium-106 using optical coherence tomography angiography.

BACKGROUND: To assess the impact of brachytherapy on macular microvasculature utilizing optical coherence tomography angiography (OCTA) in treated choroidal melanoma. METHODS: In this retrospective observational case series, we reviewed the recorded data of the patients with unilateral extramacular choroidal melanoma treated with ruthenium - 106 (106Ru) plaque radiotherapy with a follow-up period of more than 6 months. Automatically measured OCTA retinal parameters were analysed after image processing. RESULTS: Thirty-one eyes of 31 patients with the mean age of 51.1 years were recruited. Six eyes had no radiation maculopathy (RM). From 25 eyes with RM, nine eyes (36%) revealed a burnout macular microvasculature with imperceptible vascular details. Twenty-one non-irradiated fellow eyes from the enrolled patients were considered as the control group. Foveal and optic disc radiation dose had the highest value to predict the burnout pattern (ROC, AUC: 0.763, 0.727). Superficial and deep foveal avascular zone (FAZ) were larger in irradiated eyes in comparison to non-irradiated fellow eyes (1629 µm2 vs. 428 µm2, P = 0.005; 1837 µm2 vs 268 µm2, P = 0.021; respectively). Foveal and parafoveal vascular area density (VAD) and vascular skeleton density (VSD) in both superficial and deep capillary plexus (SCP and DCP) were decreased in all irradiated eyes in comparison with non-irradiated fellow eyes (P < 0.001). Compared with non-irradiated fellow eyes, irradiated eyes without RM had significantly lower VAD and VSD at foveal and parafoveal DCP (all P < 0.02). However, these differences at SCP were not statistically significant. CONCLUSION: The OCTA is a valuable tool for evaluating RM. Initial subclinical microvascular insult after 106Ru brachytherapy is more likely to occur in DCP. The deep FAZ area was identified as a more critical biomarker of BCVA than superficial FAZ in these patients.

Retinal displacement following pars plana vitrectomy with silicone oil tamponade for rhegmatogenous retinal detachment.

PURPOSE: To evaluate the frequency of retinal displacement after pars plana vitrectomy (PPV) using silicone oil tamponade in patients with rhegmatogenous retinal detachment (RRD). METHODS: Patients with fresh RRD were enrolled in this prospective interventional case series. A standard 3-port PPV with silicone oil tamponade was performed in all cases. A complete ocular examination, optical coherence tomography and fundus autofluorescence (FAF) imaging were performed at 1 and 3 months follow-up. Orthoptic examinations including synoptophore and light on-off tests were also performed at 3 months. RESULTS: Twenty-three eyes from 23 patients with mean age of 56.6 ± 11 (range: 38-82) years were included. All patients were pseudophakic. Downward retinal displacement was found in 2 eyes (8.7%) showing hyperautofluorescent lines parallel to retinal vessels in FAF image. The patients with retinal displacement did not complain of metamorphopsia and did not show abnormality in orthoptic tests. CONCLUSION: Unintentional retinal shift following PPV with silicone oil tamponade for RRD is uncommon and might have little clinical significance.

Ocular flare-up in patients with systemic lupus erythematosus following discontinuation of hydroxychloroquine.

In this report, we describe two patients with systemic lupus erythematosus (SLE) who manifested with posterior segment flare-up approximately three months after cessation of hydroxychloroquine (HCQ). They were stable systemically with no history of hypertension or nephropathy at the time of referral. Our first patient presented with bilateral retinal vein occlusion, while evidence of choroidal involvement such as vascular leakage and wedge-shaped filling delay was present in indocyanine green angiography of both patients. HCQ is well known to have a role in the treatment of SLE for its immunomodulatory and antithrombotic effects. Although reports of systemic flare-up of SLE following HCQ cessation exist in the literature, this is the first report of ocular flare-up in such settings.

Optical coherence tomography angiography changes in macula-off rhegmatogenous retinal detachments repaired with silicone oil.

PURPOSE: To evaluate the changes on optical coherence tomography angiography (OCTA) in macula-off rhegmatogenous retinal detachments (RRD) treated with pars plana vitrectomy (PPV) and silicone oil (SO) 5000-cSt tamponade. MATERIALS AND METHOD: Forty-five eyes with macula-off RRD treated with PPV and SO tamponade were enrolled with the fellow eye being used as a control. OCT-A was obtained using the RTVue XR 100 Avanti (Optovue, Inc., Fremont, CA, USA) at the 1-week, 1-month, and 3-month postoperative visit. Retinal vascular density, choroidal flow area, retinal thickness, and foveal avascular zone area were evaluated at each follow-up visit. Changes in these parameters in the postoperative eye were tracked at each follow-up visit as were the relative differences between the postoperative eye and the contralateral eye. RESULTS: Vascular density of parafoveal superficial capillary plexus and total retina demonstrated significant decrease in the postoperative silicone-filled eye when compared to the fellow eye (P < 0.0001). Although there was some improvement in these values at subsequent follow-ups, they remained less than the fellow eye. Foveal (P = 0.002) and parafoveal (P < 0.0001) thickness were less than the fellow eye. Choroidal flow area did not show a significant change in operated eye compared with the fellow eye. CONCLUSION: Eyes with macula-off RRD repaired with PPV and SO, at 3-month follow-up, demonstrated less retinal vascular density at parafoveal area as well as lower retinal thickness at fovea when compared to the healthy fellow eyes.

Multifocal electroretinogram in diabetic macular edema and its correlation with different optical coherence tomography features.

PURPOSE: To evaluate multifocal electroretinogram (mfERG) parameters in eyes with diabetic macular edema (DME) and its correlation with vision and optical coherence tomography (OCT) features. METHODS: Fifty-four eyes of 27 subjects with DME due to nonproliferative diabetic retinopathy were evaluated. MfERG responses were measured in three concentric rings. Macular thickness was measured by OCT in each segment of the three concentric rings, and mfERG rings were superimposed on the macular thickness map. The correlation between macular thickness in specific points of the thickness map and changes of the mfERG parameters in the corresponding points of the mfERG field map was evaluated and the relationship between the OCT and mfERG changes and changes of best-corrected visual acuity (BCVA) was investigated. The central foveal B-scans of SD-OCT were used to evaluate any correlation between the external limiting membrane (ELM) status, ellipsoid zone (EZ) status, presence of cysts or disorganization of retinal inner layers (DRIL), and mfERG parameters at the central corresponding area. RESULTS: The mean of BCVA was 0.5 ± 0.3 in logMAR, and the central macular thickness was 392.6 ± 123.4 microns. The central ring P1 and N2 amplitudes had a significant correlation with BCVA in univariate and multivariate analyses (P = 0.001 for both, r = - 0.346 and r = - 0.646, respectively). There was a significant correlation between retinal thickness and the N1 amplitude in the central ring (P = 0.02, r = - 0.343). Outer retinal layer disruption (ELM and EZ) correlated with prolonged P1 implicit time at the corresponding location (P = 0.005, r = 0.068). The presence of the DRIL was associated with reduced P1 and N2 amplitudes (P = 0.037, r = - 0.284 and P = 0.019, r = - 0.562, respectively). A significant correlation was also found between the presence of cysts and a lower central P1 amplitude (P = 0.033, r = - 0.376). CONCLUSION: In diabetic patients, discrete changes of some parameters in the central ring of the mfERG field map (e.g., P1 and N2 amplitudes) have a significant correlation with both structural OCT abnormalities in the corresponding points of the thickness map (like DRIL, intraretinal cyst and ELM/EZ disruption) and BCVA. Predictive models such as those described in this report may make it possible to identify the relationship between specific anatomical and functional characteristics in diabetic retinopathy.

Intravitreal bevacizumab alone or combined with 1 mg triamcinolone in diabetic macular edema: a randomized clinical trial.

PURPOSE: To compare the results of intravitreal bevacizumab (IVB) injection alone or in combination with intravitreal 1 mg triamcinolone acetonide (IVT) in center-involved diabetic macular edema. METHODS: In this randomized clinical trial study, ninety-two eyes of 46 patients with bilateral center-involved diabetic macular edema and no previous treatment were included in the study. One eye of each patient was randomly assigned to 1.25 mg of IVB injection or combination of 1.25 IVB and 1 mg IVT. Evaluation of best-corrected visual acuity (BCVA), central macular thickness (CMT), intraocular pressure (IOP) and grading of lens opacity was conducted at baseline, and weeks 2, 4, 6, 8, 12 and 24 after treatment. Retreatment was performed at a 6-week interval whenever indicated based on CMT. RESULTS: Between the groups, BCVA changes were not statistically different until 24-week follow-up (P > 0.05), but at 24 weeks after treatment, BCVA improvement was significantly better in IVB group (P = 0.049). Significant CMT reduction was observed in each group along the follow-up period (P = 0.001). The mean CMT reduction was more significant in combination (IVB + IVT) group at 2 weeks of follow-up (P < 0.001), but CMT changes were not significant between the groups at weeks 12th and 24th after injection. Overall, retreatment was applied for 59 eyes up to 24 weeks (33 in the IVB group, 26 in the IVB + IVT group). Among patients with 2 or more injections, number of injections was significantly lower in IVB + IVT group (P = 0.043). Three eyes within IVB + IVT group developed IOP rise beyond 21 mmHg, which were controlled with topical anti-glaucoma medications within 1 week. Changes in lens opacity were not significant between two groups. CONCLUSION: Eyes treated with IVB plus 1 mg IVT injections had more significant reduction in CMT in early post-injection, but this effect was transient. Although after 24 weeks visual acuity improvement was better in IVB group, combination therapy may decrease the number of injections. Combining 1 mg of intravitreal triamcinolone with bevacizumab was not accompanied with significant side effects.

Bilateral helicoid peri-papillary sub-retinal fibrosis due to a biallelic NR2E3 mutation: Describing variable expressivity of a mutation.

BACKGROUND: To describe different clinical presentations of a same NR2E3 recessive mutation in two families and within one family. DESIGN: Interventional family study. RESULTS: Our first case was a one-year-old male child with high hyperopia and refractive accommodative esotropia. In retinal examination, peri-papillary sub-retinal fibrosis with a helicoid configuration was observed in both eyes. The parents and the only sibling had no pathologic findings in the eyes. The child showed to have severely reduced responses in both photopic and scotopic electroretinogram components. In the genetic investigation, a homozygous autosomal recessive mutation in the NR2E3 gene (IVS1-2A > C) was discovered in the affected child, while the other family members were heterozygous for this mutation. We followed up with the patient for 3 years and no new lesion developed during this period. The second case was a 13-year-old male child referred to the retina clinic for decreased vision in the right eye. In retina examination, there were nummular pigmentary changes at the level of retinal pigment epithelium and along the vascular arcades with foveo-schitic changes in both eyes. A choroidal neovascularization (CNV) was noticed in the macula of his right eye. The genetic evaluation proved the same mutation in the NR2E3 gene as in the first case. Family history was remarkable for an uncle, an aunt, and two cousins with night blindness. CONCLUSION: Same NR2E3 gene mutation can cause heterogeneous clinical manifestations such as slight retinal changes in the absence of any visual symptoms to high hyperopia associated with helicoid peri-papillary sub-retinal fibrosis.