Peripapillary and Subfoveal Choroidal Thickness in Retinal Vein Occlusions.

Purpose: This work aimed to longitudinally assess the peripapillary (PPCT) and subfoveal (SFCT) choroidal thickness (CT), in patients diagnosed with central (CRVO) or branch retinal vein occlusions (BRVO), correlating SFCT with central macular thickness (CMT) and PPCT with peripapillary retinal nerve fiber layer thickness (pRNFL). Patients and Methods: This was a retrospective longitudinal study of 71 eyes from 71 patients with treatment-naïve retinal vein occlusion (24 CRVO and 40 BRVO). Spectral-domain optical coherence tomography (SD-OCT, Spectralis HRA-OCT, Heidelberg) was used to measure PPCT, SFCT, pRNFL and CMT of the affected and fellow eyes at baseline (acute phase) and at 3 and 9 months post anti-VEGF treatment. IBM SPSS Statistics version 27.0 (IBM Corp., Armonk, NY, USA) was used for statistical analysis. A p-value ≤0.05 was considered statistically significant. Results: Affected eyes presented a thicker baseline PPCT and SFCT compared to their fellow eyes both in CRVO and BRVO (p < 0.05). Both groups presented a significant decrease of PPCT in the affected eyes at 3 months compared to baseline (p < 0.05). At 9 months, compared to 3 months, PPCT remained stable (p > 0.05). Similarly, affected eyes' SFCT significantly decreased at 3 months (p < 0.05) in both groups. At 9 months, compared to 3 months, SFCT decreased in the CRVO patients (p = 0.047) but remained stable in the BRVO patients (p = 0.850). No correIations between SFCT and CMT were seen at any timepoint in both groups (p > 0.05). PPCT correlates with pRNFL in CRVO at 3 months, although no other correlations were found during the follow-up. In BRVO, PPCT did not show any significant correlation with pRNFL. Conclusion: Both in CRVO and BRVO eyes, PPCT and SFCT at diagnosis are significantly thicker compared to the fellow eye, suggesting a possible increase in CT immediately after the occlusion, which is followed by a decrease at an early follow-up stage.

Cone dystrophy with supernormal rod responses: A rare KCNV2 gene variant.

PURPOSE: To describe the clinical, electrophysiological, and genetic findings of three Portuguese families with a rare variant in the KCNV2 gene resulting in "cone dystrophy with supernormal rod responses" (CDSRR). METHODS: Retrospective clinical revision of five individuals from three unrelated families with CDSRR. Ophthalmological examination was described in all patients and included color vision testing, fundus photography, fundus autofluorescence (FAF) imaging, spectral domain-optical coherence tomography (SD-OCT), pattern electroretinogram (ERG), and full-field ERG. The mutational screening of the KCNV2 gene was performed with Sanger and Next Generation Sequencing. RESULTS: All patients showed childhood-onset photophobia and progressive visual acuity loss with varying degrees of severity. In multimodal imaging, various degrees of retinal pigment epithelium disturbances and outer retinal atrophy, which tend to be worst with advancing age, were observed. Molecular screening identified a rare presumed truncating variant (p.Glu209Ter) in homozygosity in two families and in compound heterozygosity in a third family. Three patients showed ERG changes characteristic of CDSRR, however, two patients presented with incomplete electrophysiological features of the disease. CONCLUSION: A rare variant in the KCNV2 gene was identified in five patients from three Portuguese families. This variant often leads to a severe and progressive form of retinopathy. Considerable variability in the ERG responses among patients with this KCNV2 variant was observed.

Correlation Between Ophthalmologic and Neuroradiologic Findings in Type 1 Neurofibromatosis.

BACKGROUND: Neurofibromatosis Type 1 (NF-1) is a genetic disease affecting the eye, and ocular findings such as Lisch nodules (LN) or optic pathway gliomas (OPGs) are a part of its diagnostic criteria. Recent imaging technologies such as infrared (IR) imaging and optical coherence tomography (OCT) have highlighted the visualization of choroidal focal abnormalities in these patients, even in the absence of other ocular lesions. This study aimed to establish a morphological multimodal evaluation of choroidal findings in patients with NF-1, correlating them with central nervous system (CNS) findings. METHODS: This retrospective study included 44 eyes from 22 patients with NF-1. Central 30° IR imaging was obtained, and the number and total area of detectable lesions were calculated. Both macular and optic disc scanning with OCT were performed, with and without the enhanced depth imaging technique, to assess the presence of choroidal focal hyperreflective lesions. Central macular thickness, ganglion cell layer, and outer nuclear layer thickness were assessed, as well as subfoveal choroidal thickness. The peripapillary retinal nerve fiber layer (RNFL) thickness was also assessed. Patients' magnetic resonance images (MRI) were reviewed and categorized by a neuroradiology specialist, determining the presence of OPGs and CNS hamartomas. Correlations between the ophthalmological and neuroradiological findings were established. RESULTS: Patients' mean age was 16.4 ± 7.3 years and 59.1% were women. On the MRI, 86.4% of the patients had CNS hamartomas, and 34.1% of the eyes had OPGs. LN were described in 29.5% of the eyes, whereas a total of 63.4% of the eyes presented the characteristic hyperreflective lesions in IR imaging, all of them matching the underlying choroidal lesions. A mean of 2.9 ± 3.3 lesions per eye and a median total lesion area of 1.52 mm2 were found. The presence of OPGs was correlated with a greater number (P = 0.004) and a larger area (P = 0.006) of IR lesions. For a cut-off of 3.5 lesions per eye, the sensitivity and specificity for the presence of OPGs were 75% and 80%, respectively. For a total lesion area of 2.77 mm2, the sensitivity and specificity for the presence of OPGs were 69.2% and 93.1%, respectively. Eyes with OPGs presented a significant reduction in the temporal RNFL (P = 0.018) thickness, as well as a reduction in subfoveal choroid thickness (P = 0.04). No relations were found between CNS hamartomas and ophthalmological findings. CONCLUSIONS: This study suggests that focal choroidal abnormalities are correlated with the presence of CNS lesions as OPGs in patients with NF-1, and it might be a surrogate for the need for CNS imaging in these patients.

Two Novel Disease-Causing Variants in the PDE6C Gene Underlying Achromatopsia.

We report the clinical phenotype and genetic findings of two variants in PDE6C underlying achromatopsia (ACHM). Four patients with the variant c.1670G>A in exon 13 of the PDE6C gene were identified. Additionally, one had compound heterozygous genotype, with two variants in the PDE6C gene, a variant of c.2192G>A in exon 18 and c.1670G>A in exon 13. All patients presented the symptomatic triad of decreased visual acuity, severe photophobia, and colour vision disturbances. SD-OCT showed an absence of the ellipsoid zone, creating an optically empty cavity at the fovea in three patients. The patient with the compound heterozygous genotype presented a more severe subfoveal outer retina atrophy. ERG recordings showed extinguished responses under photopic and 30-Hz flicker stimulation, with a normal rod response. We identified two new variants in the PDE6C gene that leads to ACHM.

Predicting retinal pigment epithelium remodelling and its functional impact.

PURPOSE: To identify predictive factors for RPE tear remodelling and its correlation with functional and morphological outcomes. METHODS: Retrospective longitudinal study of patients with retinal pigment epithelium (RPE) tears secondary to age-related macular degeneration (AMD). Imaging was performed using spectral-domain optical coherence tomography (SD-OCT) and fundus autofluorescence (FAF). RPE layer integrity in the RPE-denuded area was examined with SD-OCT, and variation in the RPE-denuded homogeneous hypofluorescent area was examined with FAF over time for each case (eye). Patients were divided in two groups, according to the presence (Rem) or absence (No Rem) of evidence of RPE tear remodelling. Data were collected at three different time points: at baseline (at diagnosis of exudative AMD), at RPE tear diagnosis, and at the last available follow-up. Using SD-OCT, the following parameters were evaluated: type of CNV, type of PED and its dimensions, presence of subretinal (SRF) or intraretinal (IRF) fluid, central retinal thickness (CRT), presence and location of hyperreflective dots, and dimension and location of RPE tear. RESULTS: This study included 32 eyes from 31 patients (19 female and 12 male), with RPE tears secondary to AMD. RPE remodelling after tear development was evident in 17 (53.1%) eyes after 7 [1-59] months. Anatomical recovery was associated with a younger age at RPE tear diagnosis (73 ± 7 vs. 81 ± 7 years old, p=0.01), smaller and narrower retinal pigment epithelial detachment (PED) at tear diagnosis (height 369 vs. 602 µm, p=0.02; width 2379 vs. 3378 µm, p=0.04), and the presence of SRF at tear diagnosis (94% vs. 53%, p=0.02). After adjusting for other covariates, a younger age at RPE tear diagnosis maintained significant association with RPE tear remodelling. RPE tear remodelling did not correlate with a better visual outcome at last follow-up (43 ± 22.8 vs. 34 ± 23.8 ETDRS letters, p=0.30). Final VA was directly proportional to VA at tear diagnosis (r= 0.654; p<0.001) and correlated negatively with PED width at tear diagnosis (r = -0.388; p=0.03). CONCLUSION: RPE remodelling was evident in half of our sample and was associated with a younger age, smaller and narrower PED at RPE tear diagnosis, and presence of SRF also at tear diagnosis. Nevertheless, this structural recovery did not result in a better functional outcome.

Long term outer retinal changes in central serous chorioretinopathy submitted to half-dose photodynamic therapy.

PURPOSE: To evaluate long-term changes in the foveal and parafoveal outer retina after half-dose photodynamic therapy (HD-PDT) in central serous chorioretinopathy (CSC). METHODS: Retrospective study including CSC patients submitted to HD-PDT. Best corrected visual acuity (BCVA) was evaluated. Spectral-domain optical coherence tomography automatic segmentation algorithm was used and data on retinal, inner retinal, outer retinal and outer nuclear layers (ONL) in both foveal 1 mm (C) and parafoveal 3 mm ETDRS circles for the superior, nasal, inferior and temporal sectors, were obtained at baseline and 3, 12 and 24 months post-treatment. Subfoveal choroidal thickness, photoreceptors' outer segment thickness, subretinal fluid (SRF) height and width were also measured. RESULTS: Twenty-one eyes of 15 patients were included. At baseline, the mean ONL thickness in the foveal area was significantly thinner in affected eyes compared to their fellow unaffected ones (55,50 ± 32,75 µm vs 93,00 ± 17,0 µm; p = 0,011), and was negatively correlated to logMAR BCVA (R=-0,601, p = 0,008) ONL thickness increased by 10,94 ± 11,88 µm at 24 months in the foveal area, and all the parafoveal sectors presented a similar increase. Baseline SRF width was significantly correlated with baseline BCVA (R1 = 0,483, p = 0,036), and with ONL thickness in all sectors. CONCLUSION: In our study we found a significant long-term increase in foveal and parafoveal ONL thickness in CSC after HD-PDT, suggesting that this seems to be a safe treatment for the outer retina. This is the first study mapping the outer retinal changes in the macular area to 24 months follow up.

Longitudinal Retinal Changes Induced by Hydroxychloroquine in Eyes without Retinal Toxicity.

INTRODUCTION: This study aimed to evaluate the longitudinal changes in retinal layer thickness in patients treated with hydroxychloroquine without retinal toxicity. METHODS: This is a longitudinal retrospective study of patients taking hydroxychloroquine followed in a hydroxychloroquine retinal toxicity screening program of a tertiary hospital between January 2010 and April 2019. Patients who performed 2 optical coherence tomography (OCT) scans at least 1 year apart were included. All subjects with hydroxychloroquine suspected or confirmed retinal toxicity, glaucoma, retinal pathology, or poor segmented images were excluded. Spectral-domain optical coherence tomography (Spectralis HRA-OCT, Heidelberg) was used to evaluate the macular area. Automatically segmented ETDRS retinal thickness maps were compared between the first and the last OCT evaluation available. Full retina (FR), inner retina (IRL), ganglion cells (GCL), inner nuclear (INL), and outer retina (ORL) layer thicknesses were measured in the foveolar, paracentral, and peripheral area. RESULTS: The population included 144 eyes of 144 patients. The mean interval between OCT scans was 38.1 ± 18.4 months, and the mean cumulative dose was 406.9 ± 223.9 g. Foveolar (p = 0.040, p = 0.006, and p = 0.001, respectively) and paracentral (p = 0.006, p = 0.001, and p = 0.005, respectively) FR, IRL, and GCL decreased overtime. No differences were found in INL or ORL. A very weak correlation was found between age and foveal IRL change overtime (p = 0.037; R = 0.175), as well as between the hydroxychloroquine time of use and foveal GCL variation (p = 0.032; R = 0.179). CONCLUSION: Hydroxychloroquine was found to cause progressive thinning of the inner retinal layers, specifically in the GCL of the foveolar and paracentral areas, but no changes were observed in the outer retina.

Incidence of endophthalmitis after intravitreal injection with and without topical antibiotic prophylaxis.

PURPOSE: The purpose was to compare the incidence of endophthalmitis after intravitreal injection with and without topical antibiotic prophylaxis. METHODS: This is a single-center, retrospective case-control study. All patients treated with intravitreal injection of ranibizumab, bevacizumab, aflibercept, or corticosteroids for a variety of retinal vascular diseases between 1 October 2014 and 30 November 2018 were included. The total number of patients and injections were determined from a review of billing code and practice management records. Endophthalmitis cases were determined from billing records and then confirmed with chart review. A 24-month period when topical antibiotics were prescribed after intravitreal injection was compared with a 24-month period when topical antibiotics were not prescribed. RESULTS: Between 1 October 2014 and 30 November 2018, a total of 33,515 intravitreal injections were performed and 13 cases of post-intravitreal injection endophthalmitis were identified (incidence rate of 0.0388%; 95% confidence interval, 0.0217%-0.0644%) or approximately 1 case for every 2578 intravitreal injections. Between 1 October 2014 and 31 October 2016, while topical antibiotic prophylaxis was used postoperatively, 14,828 intravitreal injections were performed and 5 cases of endophthalmitis were reported (0.0337%; 95% confidence interval, 0.0129%-0.0739%). Between 1 November 2016 and 30 November 2018, while no prophylaxis was used, 18,687 intravitreal injections were performed and 8 cases of endophthalmitis were identified (0.0428%; 95% confidence interval, 0.0202%-0.0808%). There were no statistical differences in the incidence rates between the two groups (p = 0.675). CONCLUSION: The incidence rate of endophthalmitis in the group with topical antibiotic prophylaxis after intravitreal injection was similar to the group with no prophylaxis. Changing the current clinical practice to no antibiotic prophylaxis had no effect on the incidence of endophthalmitis.

A novel homozygous frameshift variant in the cellular retinaldehyde-binding protein 1 (RLBP1) gene causes retinitis punctata albescens.

BACKGROUND: Retinitis punctata albescens is a form of retinitis pigmentosa characterized by white fleck-like deposits in the fundus, in most cases caused by pathogenic variants in RLBP1 gene. The purpose of this work is to report the phenotypic and genotypic data of a patient with retinitis punctata albescens carrying a deletion in the RLBP1 gene. RESULTS: An 8-year-old Caucasian female has been complaining of nyctalopia for the last 2 years. No other ocular symptoms were present. No relevant past medical or familiar history was described. At clinical examination, the patient's best-corrected visual acuity was 20/20 in both eyes. Anterior segment evaluation and intraocular pressure were normal in both eyes. At fundoscopy, multiple punctate whitish-yellow fleck-like lesions were observed in the proximity of temporal superior and inferior vascular arcades. Scotopic electroretinogram demonstrated severely reduced rod response, without improvement or recovery of rod system function after prolonged dark adaptation. Blood DNA samples of this patient and from her parents were screened for causal variants in RLBP1, RDH5, and PRPH2. CONCLUSION: A probable pathogenic frameshift variant was identified in homozygosity in the RLBP1 gene with an autosomal recessive transmission as another cause of retinitis punctata albescens. This DNA variant will aid ongoing functional studies and add to our understanding of the molecular pathology about RLBP1-associated retinopathies.

Covid-19 Impact on Macular Neovascularization and Retinal Vein Occlusion Treatment: Single-Center Experience.

PURPOSE: The aim of this study was to evaluate whether the coronavirus disease 19 (COVID-19) pandemic resulted in undertreatment and subsequent loss of visual acuity (VA) in patients with macular neovascularization (MNV) or retinal vein occlusion (RVO) regularly treated with intravitreal antivascular endothelial growth factor injections. METHODS: Single-center, retrospective study of patients scheduled for treatment between March 19 and June 1, 2020, the national mandatory quarantine period. Patients' demographics, VA, and scheduled treatment during this period were reviewed via medical records. All patients were analyzed regarding treatment attendance rates. The visual impact of COVID-19 was assessed in patients who had been treated and presented a stable VA for >6 months before the beginning of the quarantine. RESULTS: This study included 927 eyes from 769 patients. The attendance rate increased throughout the study timeframe (p < 0.001) and correlated negatively with higher patient's age (r = -0.142; p = 0.005). Patients with age-related macular degeneration (67.6%) had lower attendance rates (p = 0.007) and were older (p < 0.001). The visual impact analysis included 400 eyes from 325 patients. The average VA variation throughout this period was -1.7 ± 8.4 ETDRS letters and was similar in different retinal pathologies (p = 0.334). VA variation did not correlate with the number of missed treatments per patient (r = 0.100; p = 0.150). The prevalence of subretinal fluid and intraretinal fluid, as well as central retinal thickness decreased significantly throughout the study period (p values of <0.001, <0.001, and 0.032, respectively). CONCLUSION: The COVID-19 pandemic had a significant impact on the attendance rate of patients with MNV or RVO to their scheduled treatments, which was higher in the first week of mandatory quarantine. Nevertheless, VA did not decrease significantly during this period, with a limited VA variation regardless of primary retinal disorder and morphological parameters even improved in the eyes included in the visual impact analysis.

A novel MFRP gene variant in a family with posterior microphthalmos, retinitis pigmentosa, foveoschisis, and foveal hypoplasia.

BACKGROUND: To characterize the phenotype and genotype of a syndrome associating posterior microphthalmos (PM), retinitis pigmentosa (RP), foveoschisis, and foveal hypoplasia (FH) in a consanguineous Portuguese family. MATERIALS AND METHODS: Three siblings were studied and underwent comprehensive eye examinations for best-corrected visual acuity, axial length, refractive error, B-mode ultrasound, electroretinography, retinography, fluorescein angiography (FA), kinetic visual field (VF), and optical coherence tomography (OCT). Molecular analysis was performed by Sanger sequencing of the entire coding region of the MFRP gene. RESULTS: All members presented nyctalopia, decreased visual acuity, and constriction of the VF, as well as bilateral shortening of the posterior ocular segment and normal anterior segment dimensions. The fundoscopy and ERG results were compatible with RP. Macular OCT analysis revealed schisis of the outer retinal layer, FH, as well as retinal and choroidal folds. We identified a homozygous mutation in intron 9 of the membrane frizzled-related protein (MFRP) gene (c.1124 + 1 G > A). CONCLUSIONS: Our study shows a family with PM and RP due to a mutation in the MFRP gene. The relationship has previously been proven, but this specific mutation has never been described. These gene mutations show wide phenotypic variability, being evident in the presence of foveoschisis, retinal and choroidal folds, and FH, other than PM and RP.

Idiopathic Acute Exudative Polymorphous Vitelliform Maculopathy: Insight into Imaging Features and Outcomes.

The authors describe imagiological findings in idiopathic exudative polymorphous vitelliform maculopathy. A 41-year-old woman complained of bilateral blurry vision. Best-corrected visual acuity was 20/20 bilaterally. Bilateral small serous neurosensory detachments in the fovea were seen at fundoscopy and confirmed by spectral-domain optical coherence tomography. Fluorescein angiography was unremarkable. Indocyanine green angiography presented discrete hyperfluorescent spots on the posterior pole. Later, more bleb-like lesions with a vitelliform appearance and hyperautofluorescent on blue fundus autofluorescence were detected. One year later, a complete resolution of the fluid was observed. To conclude, multimodal evaluation of patients with idiopathic exudative polymorphous vitelliform maculopathy is essential for the correct diagnosis of this disease.

Increased Choroidal Thickness in Keratoconus Patients: Perspectives in the Disease Pathophysiology.

PURPOSE: To analyze and compare choroidal thickness between keratoconus (KC) patients and age-matched non-KC subjects. METHODS: A cross-sectional, case-control study. One hundred and thirty-four keratoconic eyes and 78 control eyes, from individuals aged from 12 to 30 years old, were studied. Patients with KC followed in Corneal Department of Centro Hospitalar São João, Porto, Portugal, were identified and consecutively included between December 2017 and February 2018. A spectral-domain optical coherence tomography (OCT) using depth enhanced imaging was performed, and choroidal thickness in the center of the fovea and at 500 µm intervals along a horizontal section was measured and compared. RESULTS: The statistical analysis showed that keratoconic eyes present a thicker choroid in every measured location (p < 0.05). Mean subfoveal choroidal thickness (SFCT) values obtained were 375.86 ± 89.29 and 322.91 ± 85.14 in keratoconus and control groups, respectively (p < 0.001). In a multivariate analysis, SFCT was significantly associated with spherical equivalent (p=0.004) and the presence of keratoconus (p < 0.001), but not with age (p=0.167), gender (p=0.579), or best-corrected visual acuity (p=0.178). In a "fixed model," keratoconus patients were found to have a 67.55 µm (95% CI 36.61-98.49) thicker subfoveal choroid compared to controls. CONCLUSION: Keratoconus patients seem to have a thicker choroid than healthy individuals. The exact pathophysiological mechanism resulting in a thicker choroid in KC patients is not known, but it could possibly be associated with inflammatory choroidal mechanisms.

Ophthalmologic Manifestations of Wolfram Syndrome: Report of 14 Cases.

PURPOSE: The aim of this study was to describe ophthalmological abnormalities in 14 cases of Wolfram syndrome belonging to 9 different families. METHODS: Patients were submitted to a complete ophthalmological, neurological, otorhinolaryngological, urological, and genetic evaluation. RESULTS: Our sample comprised 14 Caucasian patients belonging to 9 different families. Their ages ranged from 10 to 38 years. The mean duration of known disease was 11.3 ± 8.7 years. Genetic confirmation was obtained in 7 families. There was a parental consanguinity history in 2 families. Five families were homozygous for a mutation of exon 8 of the WFS1 gene (Chr. 4), and 2 patients were heterozygous. Diabetes mellitus was the first manifestation in all except 1 patient. The mean age at diagnosis was 8.7 years (range 3-22). None had diabetic retinopathy. The mean age at diagnosis of optic atrophy was 11.1 years (range 8-35). The best-corrected visual acuity ranged from counting fingers to 20/50. CONCLUSIONS: Association of optic atrophy with insulin-dependent diabetes mellitus should raise the suspicion of Wolfram syndrome.

WAGNER syndrome: anatomic, functional and genetic characterization of a Portuguese family.

PURPOSE: To report the clinical (anatomic and functional) and genetic findings of Wagner Syndrome (WS) in a Portuguese family. METHODS: Nine members of the family agreed to be examined. All had complete clinical eye examinations. The proband and selected patients underwent color fundus photography, spectral domain optical coherence tomography (SD-OCT), automatic static white-on-white computerized perimetry, and electrophysiology assessment (flash ERG, multifocal(mf) ERG and dark adaptometry). A pedigree was constructed based on interviews with known affected subjects. Genomic DNA samples derived from venous blood were collected from all affected family members examined. RESULTS: Twenty-eight family members are affected. This family has the typical features of Wagner Syndrome, namely an empty vitreous cavity with veils, mild myopia and cataract. Four examined patients underwent vitreoretinal surgery due to abnormal peripheral vitreoretinal adhesions with peripheral retinal traction (n = 3). Retinal detachment was observed in 5 of the examined subjects. Four of them occurred between the ages of 5 and 15 years. Chorioretinal atrophy is also a frequent finding which results in moderate to severe visual field and advanced rod-cone dystrophy from younger ages, also confirmed by absence of scotopic function on dark adaptation. The macular dysfunction on mfERG was profound and of early onset. A heterozygous mutation in intron 7 of the VCAN gene (c.4004-1G > A) was found. CONCLUSIONS: We described a rare autosomal dominant vitreoretinopathy with near complete penetrance in a Portuguese family. Abnormal peripheral vitreoretinal adhesions, retinal detachment and chorioretinal atrophy are present in most of the examined individuals at young ages. Early onset of advanced visual field and electrophysiologic abnormalities were observed in this family. We also added relevant information to the literature by reporting our experience in surgical management of Wagner Syndrome patients with, and at risk of, retinal detachment.

Safety and Effectiveness of Cataract Surgery with Simultaneous Intravitreal Anti-VEGF in Patients with Previously Treated Exudative Age-Related Macular Degeneration.

INTRODUCTION: To evaluate the safety and impact on visual acuity, retinal and choroidal morphology of simultaneous cataract surgery and intravitreal anti-vascular endothelial growth factor on patients with visually significant cataracts and previously treated exudative age-related macular degeneration. MATERIAL AND METHODS: Prospective study, which included 21 eyes of 20 patients with exudative age-related macular degeneration submitted to simultaneous phacoemulsification and intravitreal ranibizumab or bevacizumab. The patients were followed for 12 months after surgery using a pro re nata strategy. Visual acuity, foveal and choroidal thickness changes were evaluated 1, 6 and 12 months post-operatively. RESULTS: There was a statistically significant increase in mean visual acuity at one (13.4 letters, p < 0.05), six (11.5 letters, p < 0.05) and twelve months (11.3 letters, p < 0.05) without significant changes in retinal or choroidal morphology. At 12 months, 86% of eyes were able to maintain visual acuity improvement. There were no significant differences between the two anti-vascular endothelial growth factor drugs and no complications developed during follow-up. DISCUSSION: Simultaneous phacoemulsification and intravitreal anti- vascular endothelial growth factor is safe and allows improvement in visual acuity in patients with visually significant cataracts and exudative age-related macular degeneration. Visual acuity gains were maintained with a pro re nata strategy showing that in this subset of patients, phacoemulsification may be beneficial. CONCLUSION: Cataract surgery and simultaneous anti-vascular endothelial growth factor therapy improves visual acuity in patients with exudative age-related macular degeneration.

Introdução: Pretendemos avaliar a efectividade e segurança da cirurgia de catarata associada a injecção intravítrea de anti-vascular endothelial growth factor sobre a acuidade visual, morfologia da retina e coróide em doentes previamente tratados por degeneração macular relacionada com a idade exsudativa com cataratas visualmente significativas. Material e Métodos: Estudo prospectivo, que incluiu 21 olhos de 20 doentes com degeneração macular relacionada com a idade exsudativa submetidos a facoemulsificação simultânea com ranibizumab ou bevacizumab intravítreo. Os doentes foram seguidos durante 12 meses após a cirurgia usando uma estratégia pro re nata. As alterações da acuidade visual, espessura da retina e coroideia subfoveal foram avaliadas aos 1, 6 e 12 meses de pós-operatório. Resultados: Houve um aumento estatisticamente significativo da acuidade visual média ao mês (13,4 letras, p < 0,05), aos seis (11,5 letras, p < 0,05) e doze meses (11,3 letras, p < 0,05), sem alterações significativas na morfologia da retina ou coróide. Aos 12 meses, 86% dos olhos foram capazes de manter a melhoria da acuidade visual. Não houve diferenças significativas entre os dois fármacos anti-vascular endothelial growth factor e não ocorreu qualquer complicação durante o seguimento. Discussão: A facoemulsificação associada a injecção intravítrea de anti-vascular endothelial growth factor é segura e permite uma melhoria da acuidade visual em doentes com degeneração macular relacionada com a idade exsudativa e cataratas visualmente significativas. O ganho de acuidade visual foi mantido usando uma estratégia pro re nata mostrando que neste subgrupo de doentes a facoemulsificação pode ser benéfica. Conclusão: A cirurgia de catarata associada a terapia anti-vascular endothelial growth factor simultânea melhora a acuidade visual em doentes com degenerescência macular da idade exsudativa.

Combined treatment with intravitreal bevacizumab and laser photocoagulation for exudative maculopathy in facioscapulohumeral muscular dystrophy.

PURPOSE: To report a rare case of exudative maculopathy in a patient with facioscapulohumeral muscular dystrophy (FSHD), and its management. METHODS: Observational case report. RESULTS: A 62-year-old man with genetically confirmed FSHD was referred to our department complaining of decreased visual acuity in his left eye. At presentation, right eye examination was unremarkable and best-corrected visual acuity (BCVA) was 20/20. Left eye BCVA was 20/100 and it presented a dense cataract with the evidence of macular lipid exudation. Cataract surgery combined with intravitreal bevacizumab improved BCVA to 20/20. Postoperative fundus examination disclosed focal macular retinal microvascular dilations with lipid exudation inferotemporal to the fovea. Fluorescein angiography highlighted these macular telangiectatic abnormalities but no peripheral lesions were detected. Spectral domain optical coherence tomography (SD-OCT) showed mild temporal retinal thickening, sparing the fovea. A diagnosis of exudative maculopathy due to macular telangiectasia secondary to FSHD was established. One year later, his left eye vision dropped to 20/32 and macular SD-OCT showed an aggravation of the intraretinal fluid and exudation. He was then submitted to a second intravitreal injection of bevacizumab followed by one angio-guided focal laser photocoagulation session, with a significant improvement. Twelve months later, his BCVA remained 20/20 on both eyes with no recurrence of exudation. CONCLUSION: The present work shows that in cases of visual-threatening macular exudation, intravitreal anti-vascular endothelial growth factor injections combined with focal laser photocoagulation may be a safe and effective treatment. This article also highlights that all FSHD patients should be screened for asymptomatic retinal vascular disorders.