Posterior microphthalmos with retinal involvement related to MFRP gene: a report of 10 Brazilian patients.

BACKGROUND: To describe the phenotype and genotype of 10 Brazilian patients with variants in MFRP, posterior microphthalmos and retinal findings. METHODS: Complete ophthalmological evaluation was done at 4 different Brazilian centers. Genetic analysis was performed using commercial next generation sequencing panels for inherited retinal disorders. RESULTS: Ages of the patients ranged from 10 to 65 years and visual acuities from 0,05 to no perception of light. All were hyperopes (+4,25 to + 17,50) with a short axial length (14,4 mm to 18 mm). Common posterior segment features, though not present in all, were optic disc drusen (5/10), foveoschisis (5/10) and retinal pigmentary changes (8/10). Isolated patients presented with macular atrophy, serous retinal detachment, and chorioretinal folds. The most common variant in MFRP found in our patients was a deletion in exon 5 (c.498delC; p.Asn267Thrfs *25), present in all except 2 patients. Other variants found were c.523C>T (p.Gln175*), c.298delG (p.Ala100Argfs *37), c.666del (p.Thr223Argfs *83) and the novel variant c.257C>A (p.Ala86Asp). CONCLUSIONS: This is the first report of Brazilian patients with posterior microphthalmos and pathogenic variants in MFRP and the first describe of the variant p.Ala86Asp in literature. Our cases confirm the previously reported phenotype of high hyperopia, optic disc drusen, alterations in foveal architecture, retinal pigmentary changes with loss of photoreceptor function and visual field constriction. Report of such a rare condition is important to increase awareness to the phenotype of posterior microphthalmia with associated retinal conditions.

Outcomes of Intravitreal Bevacizumab in Choroidal Neovascularization in Vogt-Koyanagi-Harada Disease- A Prospective Study.

Purpose: To assess the effectiveness of intravitreal (IV) bevacizumab and the need for systemic immunosuppressive therapy (IMT) in choroidal neovascularization (CNV) in Vogt-Koyanagi-Harada disease (VKHD).Methods: CNV treatment consisted of three monthly IV bevacizumab injections as a loading dose; if intra/subretinal fluid (IRF) persisted, further injections were proceeded besides increment in systemic IMT. Outcome analyses at 3, 6, and 12 months were visual acuity, central foveal thickness, macular volume, IRF, and addition of IMT.Results: Seven eyes of six patients were included. Five patients (five eyes) completed a 12-month follow-up and received 12 IV bevacizumab injections. At the 12-month follow-up, visual acuity improved in four out of five eyes (p = .0568); all eyes had decreased macular volume (p = .0431) but they still had persistent IRF; and all cases needed IMT introduction/increment.Conclusion: Intravitreal bevacizumab in association with systemic IMT was effective for CNV in VKHD. Active CNV may indicate disease of inadequate clinical control.

Short-term effects of intravitreal bevacizumab in contrast sensitivity of patients with diabetic macular edema and optimizing glycemic control.

AIMS: To analyze contrast sensitivity of intravitreal bevacizumab injections with optimizing glycemic control versus optimizing glycemic control (in combination with sham injections) in eyes with Diabetic Macular Edema (DME). DESIGN: Prospective, interventional, masked, randomized controlled trial. METHODS: Forty-one eyes of 34 patients with type 2 diabetes mellitus and DME with glycated hemoglobin (HbA1c) < 11% received either intravitreal bevacizumab injection (Group 1) or sham injection (Group 2) at 0 and 6 weeks along with optimizing glycemic control. Mean change in best-corrected visual acuity (BCVA), contrast sensitivity (CS), optical coherence tomography (OCT)-measured by central macular thickness (CMT) were compared and correlated at baseline, 2, 6 and 12 weeks. RESULTS: The study showed a mean CS improved in group 1 from 1.14 ±â€¯0.36 logCS to 1.32 ±â€¯0.24 logCS and also in group 2 from 1.11 ±â€¯0.29 logCS to 1.18 ±â€¯0.29 logCS at 12 weeks (P = 0.12). CS and CMT promptly decreased in group 1 compared to group 2 at 2 weeks (ΔCS = 0.15 ±â€¯0.25 vs. 0.03 ±â€¯0.15 logCS; P = 0.04; ΔCMT = 116 ±â€¯115 vs. 17 ±â€¯71 µm; P = 0.01). There was a mean reduction of approximately 0.5% in HbA1c levels in both groups at 12 weeks (P = 0.002). CONCLUSION: The use of bevacizumab in combination with optimizing glycemic control results in earlier improvement of contrast sensitivity in type 2 diabetes patients with DME. However, the optimizing glycemic control itself has shown also to be effective at 12 weeks. ClinicalTrials.gov Identifier: NCT02308644.

Effect of a single intravitreal bevacizumab injection on contrast sensitivity and macular thickness in eyes with macular edema from central retinal vein occlusion: a prospective, nonrandomized, three-month follow-up study.

PURPOSE: To evaluate the results of intravitreal bevacizumab (IVB) injection on contrast sensitivity (CS), best-corrected visual acuity (BCVA), foveal thickness (FT) and macular volume (MV) as measured by optical coherence tomography in patients with macular edema (ME) from central retinal vein occlusion (CRVO). METHODS: Sixteen consecutive eyes from 16 patients with ME from unilateral CRVO were treated with a single IVB injection. The CS, BCVA, FT and MV measurements were obtained before the treatment and 1 and 3 months after the injection. RESULTS: CS demonstrated significant improvement at all spatial frequencies - 1.5, 3, 6, 12 and 18 cycles per degree (cpd) - 1 month after the injection and at 6 cpd at the 3-month follow-up. The mean BCVA measurements in log of the minimum angle of resolution (logMAR) units improved from 1.03 at baseline to 0.83 logMAR 1 month after the injection, but worsened to 0.97 logMAR at 3 months. The mean baseline FT ± standard deviation (SD; 620.06 ± 177.60 µm) was reduced significantly 1 month (270.93 ± 74.17 µm) and 3 months (535.56 ± 222.33 µm) after the treatment. The mean baseline MV ± SD (12,765.56 ± 3,769.70 mm(3)) was reduced significantly at the 1-month (8,324.93 ± 932.04 mm(3)) and 3-month (11,319.44 ± 3,044.74 mm(3)) follow-up visits. CONCLUSIONS: IVB improved CS, BCVA, FT and MV within a short time period (1 month). Although VA was not improved at 3 months, improvements were observed for CS, FT and MV, which indicates that, despite ME recurrence, there still was some benefit to visual function.

Indocyanine green angiography findings in patients with long-standing Vogt-Koyanagi-Harada disease: a cross-sectional study.

BACKGROUND: To investigate indocyanine green angiography (ICGA) findings in patients with long-standing Vogt-Koyanagi-Harada (VKH) disease and their correlation with disease activity on clinical examination as well as with systemic corticosteroid therapy. METHODS: Twenty-eight patients (51 eyes) with long-standing (≥6 months from disease onset) VKH disease whose treatment was tapered based only in clinical features were prospectively included at a single center in Brazil. All patients underwent standardized clinical evaluation, which included fundus photography, fluorescein angiography and ICGA. Clinical disease activity was determined based in the Standardization in Uveitis Nomenclature Working Group. Fisher exact test and logistic regression models were used for statistical analysis. RESULTS: Disease-related choroidal inflammation on ICGA was observed in 72.5% (31 of 51 eyes). Angiographic findings suggestive of (choroidal and/or retinal) disease activity were not observed on FA. Clinically active disease based on clinical evaluation was observed in 41.2% (21 of 51 eyes). In these 21 eyes, disease-related choroidal inflammation on ICGA was observed in 76.2% (16 of 21 eyes); in the remaining eyes (without clinical active disease) disease-related choroidal inflammation on ICGA was observed in 70.0% (21 of 30 eyes). In respect to systemic corticosteroid therapy, 10 patients (18 of 51 eyes) were under treatment with prednisone. In these 10 (18 of 51 eyes) patients, disease-related choroidal inflammation on ICGA was observed in 83.3% (15 of 18 eyes); in the remaining patients (33 of 51 eyes) disease-related choroidal inflammation on ICGA was observed in 66.7% (22 of 33 eyes). CONCLUSION: ICGA findings suggestive of disease-related choroidal inflammation were observed in a considerable proportion of patients with long-standing VKH disease, independent of the inflammatory status of the disease on clinical examination or current use of systemic corticosteroid. Therefore, the current study reinforces the crucial role of ICGA to assist the management and treatment of patients with long-standing VKH disease.