Multimodal imaging of Hypotrichosis with juvenile macular dystrophy: a case report.

BACKGROUND: To report the first Italian case of hypotrichosis with juvenile macular dystrophy complicated by macular neovascularization diagnosed through multimodal imaging. CASE PRESENTATION: An 11-year-old boy was referred to our Institution for bilateral maculopathy of unknown origin. Multimodal imaging helps the diagnosis of Juvenile Macular Dystrophy with Hypotrichosis (HJMD). Fundus examination showed several alterations of the retinal pigment epithelium and circular pigmented area of chorioretinal atrophy. Structural spectral domain optical coherence tomography (OCT) showed some backscattering phenomenon with several alterations of retinal pigment epithelium and photoreceptor layer in both eyes. Moreover, OCT showed hyperreflective lesion beneath the neuroepithelium in left eye. OCT angiography (OCT-A) revealed a pathologic neovascular network in choriocapillaris plexus, probably the result of a fibrovascular membrane. Multifocal electroretinograms (MfERGs) showed functional alterations in 12.22° of the central retina. In order to confirm the suspicion of HJMD, the child and both parents underwent genetic testing. Both parents resulted to be heterozygous healthy carriers of a single variation. CONCLUSION: Multimodal imaging, in particular OCT-A, is a useful aid, along to clinical findings and genetics, for the diagnosis of inherited retinal dystrophies.

Severity of Disorganization of Retinal Layers and Visual Function Impairment in Diabetic Retinopathy.

PURPOSE: To evaluate best-corrected visual acuity (BCVA), retina sensitivity (RS), and fixation impairment by microperimetry (MP) due to the presence and severity of disorganization of retinal inner and outer layers (DRIL/DROL) and ischemia in OCT/OCT angiography (OCTA) in diabetic retinopathy (DR). DESIGN: Retrospective case-control study. SUBJECTS: Seventy-six eyes (65 patients) with DR were analyzed. Major exclusion criteria were: center-involving diabetic macular edema (DME), significant media opacity, nondiabetic macular pathology, and active proliferative DR. Patients with DRIL and DROL within central 3 mm were enrolled as cases. Patients with DR and no retina disorganization were considered as controls. METHODS: A detailed grading of MP and OCT/OCTA images using Image J software, and specific Image Manipulation Program was applied to colocalize the presence of retina disorganization and RS. Best-corrected visual acuity and RS were correlated with the disorganization of retina layers' characteristics and grading (grade 1-DRIL; grade 2-DROL; grade 3-DROL plus, with involvement of the ellipsoid zone). The same procedure of colocalization was applied to the vascular layers on OCTA using MATLAB. MAIN OUTCOME MEASURES: Correlation between BCVA and MP parameters with disorganization of retina layers grading and OCTA parameters. RESULTS: Best-corrected visual acuity, mean RS within 1 mm and central 3 mm (overall RS [oRS]), perfusion density, vessel density, and geometric perfusion deficit in intermediate and deep capillary plexuses were lower in cases versus controls (P < 0.001). Mean RS within 1 mm (21.4 decibels [dB] ± 2.4 vs. 13.8 dB ± 5.4, P = 0.002), oRS (22.0 dB ± 2.1 vs. 14.4 dB ± 4.6, P < 0.001), and BCVA (76.1 ± 7.4 vs. 61.2 ± 20.4 ETDRS letters; P = 0.02), had a significant decrease from grade 1 to grade 3 retina disorganization. Choriocapillaris flow voids (CC-FVs) increased from grade 1 to grade 3 (DROL plus) (P = 0.004). Overall retina sensitivity and CC-FV were identified as significant predictors of retina disorganization grade with an adjusted coefficient of determination, R2 = 0.45. Cases had more dense scotomas (P = 0.03) than controls with a positive correlation between the worsening of fixation stability and the severity of DRIL/DROL (P = 0.04). CONCLUSIONS: Microperimetry and BCVA documented a reduction in visual function in patients with DR and disorganization of retina layers at different grades, with greater functional impairment when outer retina layers and photoreceptors are involved. The severity of retina disorganization and the presence of ischemia could serve as a potential biomarker of functional impairment. FINANCIAL DISCLOSURES: Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.

A gender-based analysis of retinal microvascular alterations in patients with diabetes mellitus using OCT angiography.

PURPOSE: To assess the difference in microvascular changes between males and females with diabetes mellitus (DM) without diabetic retinopathy (NoDR) and with mild-to-moderate non-proliferative diabetic retinopathy (NPDR) using Optical Coherence Tomography Angiography (OCT-A). DESIGN: Retrospective cross-sectional study. METHODS: 267 DM patients, 133 females (49.81 %), 111 with NoDR (41.57 %) and 156 NPDR (58.43 %) were included. Foveal-centered 3 × 3 mm OCT-A images corresponding to the superficial (SCP), intermediate (ICP) and deep capillary plexus (DCP), and full retinal (RET) slab were used for analysis. For each slab, FAZ area, perimeter, and circularity index (CI) were determined, following manual delineation of the FAZ; perfusion (PD) and vessel density (VD), fractal dimension (FD), vessel length density (VLD), geometric perfusion deficits (GPD) were also computed. Flow voids (FV) were determined in the choriocapillaris plexus; and perfused capillary density (PCD) in the RET slab. RESULTS: Females showed larger FAZ CI in SCP and greater FAZ area and perimeter than males in NPDR group. Males had higher central macular thickness than females in NPDR group. All density metrics at the level of ICP and DCP were affected in the NPDR group with no gender differences. Of note, the same significant findings were found in type 1 DM patients, and not in type 2 DM patients. CONCLUSIONS: Our OCT-A findings suggest significant microvascular changes in females with NPDR compared to males, but no such differences in patients without DR. Therefore, gender-related vascular alterations might be present in early stages of DR with potential role.

Clinical Features Related to OCT Angiography Artifacts in Patients with Diabetic Macular Edema.

PURPOSE: To investigate the frequency and type of artifacts on OCT angiography (OCTA) images and the relationship with clinical features in eyes with diabetic macular edema (DME). DESIGN: Retrospective, cross-sectional comparative study. SUBJECTS: One hundred ninety-two eyes of 140 patients with DME were included. METHODS: Medical records, OCT and OCTA images (Spectralis), and ultrawidefield color fundus photographs (Optos plc) were evaluated. MAIN OUTCOME MEASURES: The frequency of artifact types (segmentation, motion, projection artifact, and low signal) was determined. The relationships between artifact types and clinical features such as best-corrected visual acuity (BCVA), mean central retinal thickness (CRT), foveal avascular zone (FAZ) area, perimeter, circularity index, perfusion density (PD), vessel density (VD), fractal dimension (FD) in the superficial capillary plexus, intermediate capillary plexus (ICP), and deep capillary plexus (DCP), flow voids (FVs) in the choriocapillaris, presence of hard exudate (HE), and cataract were determined. RESULTS: The mean age was 71.6 ± 11.4 years, and 86 (61.4%) out of 140 were men. Artifacts were present in 63 (32.8%) of 192 eyes. Twenty-nine (15.1%) eyes had segmentation artifacts, 12 (6.3%) had motion artifacts, 11 (5.7%) had projection artifacts, and 18 (9.4%) had low signal. Best-corrected visual acuity, PD, VD, and FD in ICP and DCP were significantly lower; and CRT, FAZ area and perimeter in ICP and DCP, and presence of cystoid macular edema, HE, and cataract were higher in eyes with artifacts versus eyes without artifacts (P < 0.05 for each). Multivariate linear regression analysis showed a significant association between segmentation artifacts and decreased BCVA (odds ratio [OR], 5.277; P = 0.02), increased CRT (OR, 1.015; P < 0.001), increased area of FAZ in DCP (OR, 6.625; P = 0.02), and increased perimeter of FAZ in DCP (OR, 1.775; P < 0.04); there was also a significant association between projection artifacts and presence of HE (OR, 2.017; P = 0.02) and between motion artifacts and presence of cataract (OR, 4.102; P = 0.01). CONCLUSIONS: OCT angiography artifacts were present in one third of DME eyes, with segmentation artifacts being the most frequent type. Determining OCTA artifacts is crucial to ensure accurate clinical evaluation. These data could help in developing more standardized clinical protocols for image acquisition and interpretation used in clinical practice and research. FINANCIAL DISCLOSURE(S): Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.

Intravitreal Injection Planning during COVID-19 Pandemic: A Retrospective Study of Two Tertiary University Centers in Italy.

The COVID-19 pandemic has hampered the optimum management of retinal diseases. This study examined the impact of the pandemic on the intravitreal-injection practice in two academic centers in Italy along with the related medico-legal implications. A retrospective analysis of electronic medical records from 16 March 2020 to 14 March 2021 at the ophthalmological departments of University of Cagliari (SGD) and University Magna Græcia of Catanzaro (UMG) was conducted. The data collected between 16 March 2020 and 14 June 2020 (lockdown), 15 June 2020 and 13 September 2020 (unlock), and 14 September 2020 and 14 March 2021 (second wave) were compared with those of the same period of the previous year. Weekly data on the administered drug and the number and type of treated disease were collected and analyzed. During the lockdown, a drop of 59% at SGD (p < 0.00001) and 77% at UMG (p < 0.00001) in intravitreal injections was found. In the first year of the pandemic, the reduction in injections was approximately of 27% (p < 0.0008) and 38% (p < 0.0001) at SGD and UMG, respectively. The COVID-19-related containment measures and the health resources redistribution have led to a delay in the treatment of chronic diseases of the retina, prioritizing the undeferrable ones. The lack of management guidelines has conceived relevant ethical and medico-legal issues that need to be considered in future measures planning.

Intravitreal Dexamethasone Implant in Patients Who Did Not Complete Anti-VEGF Loading Dose During the COVID-19 Pandemic: a Retrospective Observational Study.

INTRODUCTION: To compare the functional and anatomic outcomes between eyes in patients with diabetic macular edema (DME) who underwent a complete anti-vascular endothelial growth factor (VEGF) loading dose with aflibercept and those who were switched to dexamethasone intravitreal (DEX) implant after an incomplete anti-VEGF treatment regimen during the coronavirus disease 2019 (COVID-19) pandemic. METHODS: This was a retrospective and comparative study conducted on patients with DME. Main outcome measures were mean change in best corrected visual acuity (BCVA) and central retinal thickness (CRT) from baseline to month 4. RESULTS: Forty-three eyes (23 eyes in the anti-VEGF group and 20 eyes in the DEX group) were included. Mean BCVA significantly improved from 37.7 ± 25.3 and 35.7 ± 22.0 letters at baseline to 45.4 (23.9) (mean adjusted BCVA improvement 7.6 ± 20.8 letters, p = 0.033) and 46.1 ± 26.0 (mean adjusted BCVA improvement 10.6 ± 15.9 letters, p = 0.049) at month 4 in the anti-VEGF and DEX groups, respectively, with no significant differences between study groups (mean adjusted BCVA difference 2.8 letters, 95% CI - 9.4 to 14.9 letters, p = 0.648). There were no statistically significant differences in the proportion of eyes that achieved a BCVA improvement of ≥ 5, ≥ 10, and ≥ 15 letters between groups. CRT was significantly reduced from baseline to month 4 in both DEX (mean adjusted CRT reduction 167.3 ± 148.2 µm, p = 0.012) and anti-VEGF groups (mean adjusted CRT reduction 109.9 ± 181.9 µm, p < 0.001), with no differences between them (mean adjusted CRT difference 56.1 µm, 95% CI - 46.0 to 158.2 µm, p = 0.273). Of 20 eyes in the DEX group, 16 (80.0%) and 9 (45.0%) eyes achieved a CRT reduction of ≥ 20% from baseline at 2 months and at 4 months, respectively. CONCLUSIONS: Our results seem to suggest that DEX implant can significantly improve both functional and anatomic clinical outcomes in patients who were unable to complete anti-VEGF loading dose during the COVID-19 pandemic.

Predictors of Bubble Formation and Type Obtained With Pneumatic Dissection During Deep Anterior Lamellar Keratoplasty in Keratoconus.

PURPOSE: To identify predictors of bubble formation and type during big-bubble deep anterior lamellar keratoplasty (BB-DALK) performed in keratoconus at different stages of severity. DESIGN: Retrospective Cohort Study. METHODS: Setting: University Magna Græcia (Catanzaro, Italy); Study Population: Consecutive keratoconus patients undergoing BB-DALK from September 2014 to February 2019. OBSERVATION PROCEDURE: Keratometric astigmatism, mean keratometry value (K-mean), highest keratometry value (K-max), thinnest point, anterior segment optical coherence tomography (AS-OCT)-based stage of ectasia. MAIN OUTCOME MEASURES: Rate of bubble formation and type; number and fate of micro-/macroperforation; conversion to mushroom keratoplasty (MK); comparison of parameters in patients with bubble formation vs failure and in type 1 vs type 2 bubble; areas under the curves (AUC) of preoperative parameters for distinguishing between bubble types. RESULTS: Pneumatic dissection succeeded in 113 of 155 eyes (72.9%), with 100 type 1 bubbles (88.4%), 11 type 2 (9.8%), and 2 mixed-type (1.8%). Microperforations were managed conservatively in type 1 bubbles; macroperforations occurring in both types of bubbles required conversion to MK. Preoperative K-mean and K-max values were significantly higher in eyes in which bubble formation succeeded (respectively, P = .006 and P < .013). Type 1 bubbles formed in eyes with significantly lower age, K-mean, and AS-OCT stages and higher pachymetric values (always P < .029). Age had the highest diagnostic power for discrimination between bubble types, followed by AS-OCT stage, pachymetry, K-mean, and astigmatism (respectively, AUC = 0.861, 0.779, 0.748, 0.700, 0.670). CONCLUSIONS: Older age and advanced stages of keratoconus were predictors of type 2 bubble formation during BB-DALK that was associated with an increased risk of complications.

Efficacy and Safety of Wet Wipes Containing Hy-Ter® Solution Compared with Standard Care for Bilateral Posterior Blepharitis: A Preliminary Randomized Controlled Study.

INTRODUCTION: A novel treatment for posterior blepharitis which involves the use of disposable wet wipes imbibed with a solution of terpinen-4-ol and hyaluronic acid (Hy-Ter®) as well as aloe, natural anti-inflammatories and antiseptics (Blephapad Combo; Novelty Technology Care, Milan, Italy) has been proposed. The aim of this study was to compare the efficacy and safety of treatment with Blephapad Combo with standard treatment. METHODS: We conducted 4-week, open-label, randomized controlled study with a closed sequential design at the Magna Graecia University of Catanzaro, Italy in which patients aged > 40 years with symmetrical bilateral posterior blepharitis were enrolled. Each eye represented a single experimental unit. Patients were randomly assigned using a computer-generated randomization list to apply a reusable heated compress to the eyelid of one eye before cleansing the eyelid with the Blephapad Combo wet wipe (Blephapad Combo treatment arm) or to use the standard treatment of applying a wet and warm gauze to the other eye (standard treatment arm), twice daily for 4 weeks. The primary endpoint was the percentage change from baseline to week 4 in meibomian gland dysfunction (MGD) grading scale scores. RESULTS: Eighteen patients (9 men; 9 women) with a mean (± standard deviation) age of 66.9 ± 9.03 years were included in the study. Compared with the eye receiving the standard treatment, treatment with Blephapad Combo appeared to improve the MGD total score after 4 weeks of treatment (mean change from baseline - 29.9 vs. - 38.5%). The assessment of the investigators was that in 11 patients the eye treated with Blephapad Combo showed greater benefit, in two patients the eye treated with the standard treatment showed greater benefit and in four patients there was no difference between treatments. Blephapad Combo was well tolerated, with no serious adverse events (AEs) reported. Minor ocular AEs were reported in 44.4 and 38.9% of patients in the Blephard Combo and standard treatment arms, respectively. CONCLUSIONS: Treatment with Blephapad Combo was more effective than the standard treatment in ameliorating MGD in patients with posterior blepharitis. Minor ocular AEs events were equally distributed between the two treatments arms. TRIAL REGISTRATION: ClinicalTrials.gov identifier: NCT03301844.