Advanced Surface Ablation in a Patient With Suspect Topography: A Case Report.

The purpose of this clinical report is to describe a 10-year clinical outcome of advanced surface ablation with photorefractive keratectomy (PRK) in a patient who had been previously incorrectly diagnosed with keratoconus (KC). Corneal ectasia is a rare but extremely relevant complication of laser vision correction, and KC represents a major contraindication for these procedures. Nonetheless, some surface ablation procedures, such as PRK, might be a valid option for particular patients with atypical corneal topography or subclinical or mild forms of KC. Patient education and complete preoperative refractive multimodal imaging are essential for a more conscious therapeutic decision, minimizing iatrogenic ectasia, as well as decreasing the number of patients who are incorrectly denied refractive surgery, as was the patient presented in this study.

Chorioretinal Atrophic Lesions Evolution in Patients with Quiescent Myopic Choroidal Neovascularization Followed for More Than 10 Years.

Purpose: To evaluate the progression of chorioretinal atrophic areas associated with myopic choroidal neovascularization (CNV) in high myopic patients followed by a minimum period of 10 years. Patients and Methods: Patients with myopic CNV lesions that achieved clinical and structural remissions over 10 years of follow-up were included. Medical records were reviewed for CNV characterization and treatment, best-corrected visual acuity at baseline (BCVA0), immediately after the last treatment (BCVA1) and at the latest visit (BCVA2). Fundus autofluorescence (FAF) was used to quantify the amount of atrophic area increase per year associated with the treated myopic CNV lesion. The first FAF performed after treatment suspension (FAF1) was compared with the most recent exam (FAF2). Results: Thirty-six eyes from 36 patients were included. Mean total follow-up was 12.38 ± 2.68 years. Mean number of intravitreal injections (IVI) was 12.50 ± 12.40 and 25% of the eyes had previous treatment with photodynamic therapy (PDT). Mean improvement between BCVA0 and BCVA1 was 5.58 ± 15.98 letters (p < 0.001). However, a drop of 8.03 ± 12.25 letters was noticed between BCVA1 and BCVA2. FAF1 was 6.34 ± 4.92mm2 and increased to 9.88 ± 7.56mm2 (3.54 ± 3.79mm2 variation p < 0.001). The mean growth rate of the atrophic area was 0.89 ± 0.84mm2 per year. BCVA2 negatively correlated with FAF2 (k = -0.498, p = 0.002) being worse in patients with higher atrophic area growth rate (k = -0.341, p = 0.042). Eyes treated with PDT needed less IVI (5.89 ± 5.21 vs 14.70 ± 13.36, p = 0.008) but had larger FAF1 (9.80 ± 5.33 vs 5.19 ± 4.27, p = 0.013) and FAF2 (16.05 ± 7.10 vs 7.83 ± 6.63, p = 0.003). Hypothyroidism was associated with higher atrophy growth rate (1.55 ± 1.15 vs 0.73 ± 0.67, p = 0.016). Conclusion: This research demonstrates the importance of chorioretinal atrophy progression after myopic CNV lesions regression and its impact on visual prognosis, reporting a mean yearly growth of 0.89 mm2 in atrophic areas. Previous treatment with PDT and hypothyroidism were identified as risk factors associated with larger atrophic areas and worse visual outcomes.

Transepithelial Accelerated Crosslinking for Progressive Keratoconus: A Critical Analysis of Medium-Term Treatment Outcomes.

Purpose: To report the 4-year outcomes of transepithelial accelerated corneal collagen crosslinking (TE-ACXL) in the treatment of eyes with progressive keratoconus (KC). Methods: Eyes of patients who underwent TE-ACXL (6mW/cm2 for 15 minutes) for progressive KC and presented 48 months of follow-up were included. Corrected distance visual acuity (CDVA), keratometry measurements (Kmax, maximum keratometry, Kmean, mean keratometry and Astg, corneal astigmatism), thinnest corneal thickness (PachyMin), and topographic, and tomographic indices (specifically the posterior radius of curvature from the 3.0 mm centered on the thinnest point of the cornea (PRC), and the D-index) were analysed preoperatively and every 12 months after TE-ACXL, up to 48 months. Progression after TE-ACXL was considered when eyes presented ≥1 criteria: (1) increase of ≥1D in Kmax or increase of ≥0.75D in Kmean or increase of ≥1D in Astg; (2) reduction of ≥0.085 mm in PRC; (3) decrease ≥5% in PachyMin. Results: 41 eyes from 30 patients were included, with a mean age at crosslinking of 20.90±4.69 years. There was a significant increase in Kmean (+0.64±1.04 D, p<0.001; +0.98 ± 1.49 D, p<0.001; +1.27±2.01 D, p<0.001; +1.13±2.00 D, p=0.006) and a significant decrease in PRC throughout follow-up (-0.12±0.22, p=0.002; -0.15±0.24, p<0.001; -0.17±0.43, p=0.021; -0.16±0.43, p=0.027). PachyMin decreased significantly at 36 and 48 months (-8.50±15.93 µm, p=0.004; -7.82±18.37, p=0.033). According to our progression criteria, there was a major progression rate throughout follow-up (57.1%, 61.1%, 58.8%, and 67.9%, respectively). Surgery and follow-up were uneventful in all subjects. Eleven eyes (26.8%) required further procedures, ≥36 months after the initial TE-ACXL, due to persistent progressive disease. Conclusion: TE-ACXL proved to be a safe therapeutic option for progressive KC. However, its efficacy is deemed unsatisfactory, as a notable proportion of affected eyes may continue to advance within a 4-year timeframe, necessitating additional procedures to halt the disease's course.

Clinical outcomes and prognostic factors in Acanthamoeba keratitis.

PURPOSE: To report clinical findings and prognostic factors for visual and morphological outcomes in patients with Acanthamoeba keratitis (AK). METHODS: Single-center, retrospective, longitudinal study of 51 cases of AK diagnosed by real-time polymerase chain reaction (RT-PCR) between March 2010 and October 2022. The primary outcome was the final best corrected visual acuity (BCVA). Poor visual outcome was defined as a final BCVA ≥ 1 logMAR unit, while good visual outcome was defined as a final BCVA < 1 logMAR unit. Eyes from these two groups were compared, regarding demographic and initial clinical variables, anti-Acanthamoeba treatment used, and complications of the disease. Early diagnosis was defined as ≤ 14 days from symptom onset to diagnostic confirmation and initiation of Acanthamoeba medical treatment. Multivariable logistic regression was used to determine predictors of poor visual outcome. RESULTS: A total of 51 eyes from 46 patients diagnosed with AK, all contact lens (CL) wearers, were included in this study. Average follow-up was 39.0 ± 30.2 [total range 14-120] months. Thirty-one eyes (60.8 %) presented good visual outcome, with a lower baseline age (30.5 ± 9.0 vs. 42.3 ± 15.8; p = 0.020), better initial BCVA (0.8 ± 0.7 logMAR units vs. 1.3 ± 0.9 logMAR units; p = 0.047), higher rate of early diagnosis (45.2 % vs. 5.6 %; p = 0.004), and higher rate of therapeutic epithelial debridement (64.5 % vs. 10 %; p < 0.001). 20 eyes (39.2 %) presented poor visual outcome, with 12 eyes undergoing evisceration/enucleation (23.5 %). These 20 eyes presented a higher rate of complications (90 % vs. 61.3 %; p = 0.031). In multivariable analysis, early diagnosis of AK (OR 19.78; 95 % CI 2.07-189.11; p = 0.010) and therapeutic epithelial debridement (OR 19.02; 95 % CI 3.27-110.57; p = 0.001) were associated with a good visual outcome. CONCLUSIONS: In the present study, poor visual outcome was present in 39 % of affected eyes. Early AK diagnosis (≤14 days from symptom onset) and therapeutic epithelial debridement were associated with good final visual outcome.

Predictors of Glaucoma After Pediatric Cataract Surgery.

PRCIS: Glaucoma after pediatric cataract surgery is common and challenging. Age at surgery and the presence of microcornea or other anterior segment (AS) abnormalities can be used to identify those at greatest risk. OBJECTIVE: To establish risk factors for developing glaucoma after pediatric cataract surgery [glaucoma following cataract surgery (GFCS)]. METHODS: Single-center, retrospective, longitudinal study of patients who underwent lensectomy for pediatric cataracts from 2008 to 2020. Included eyes presented with congenital or acquired pediatric cataracts or an anterior form of persistent fetal vasculature, and a follow-up of at least 1 year. Exclusion criteria were the presence of preexisting intraocular pressure elevation, congenital glaucoma, syndromic cataracts, and a history of trauma or uveitis. Demographic and clinical data were collected. Our primary outcome was the development of GFCS. Multivariable logistic regression with generalized estimating equations was used to model the association between potential predictors and the risk of GFCS. RESULTS: A total of 110 eyes from 74 patients were included, 38 with unilateral and 36 with bilateral pediatric cataract surgery. The average surgery age was 24.71 ± 37.26 months, with 74 eyes (67.3%) undergoing surgery ≤12 weeks of age. Patients were followed for 9.96 ± 3.64 years after surgery. Twenty-eight eyes (25.45%) developed GFCS, all requiring glaucoma surgery. In multivariable analysis, surgery before 12 weeks of age [odds ratio (OR): 34.74; P < 0.001], presence of microcornea (OR: 12.90; P = 0.002), and presence of other AS abnormalities (OR: 52.71; P < 0.001) were significantly associated with the development of GFCS. CONCLUSIONS: The development of GFCS is a common and relevant adverse event after pediatric cataract surgery whose management is challenging. Age at surgery, the presence of microcornea, and the presence of other AS abnormalities can be used to identify those at greatest risk.

Effect of Repeated Intravitreal Injections in Glaucoma Spectrum Diseases.

Purpose: To evaluate whether repeated intravitreal injections (IVI) with an anti-vascular endothelial growth factor (anti-VEGF) agent are associated with glaucomatous progression in eyes with glaucoma spectrum diseases (GSD). Methods: Single-center, retrospective, longitudinal study of patients with bilateral and similar GSD who: (1) received ≥8 IVI in only one eye during the study period; (2) had ≥2 retinal nerve fiber layer thickness (RNFL) measurements obtained by spectral-domain optical coherence tomography (SD-OCT) at least 12 months apart. The primary outcome was the absolute RNFL thickness change, comparing injected and fellow uninjected eyes. Linear mixed effects models were constructed, including a multivariable model. Results: Sixty-eight eyes from 34 patients were included, 34 injected and 34 fellow uninjected eyes. Average baseline age was 67.68±21.77 years with a follow-up of 3.66±1.89 years and 25.12±14.49 IVI. RNFL thickness decreased significantly from 80.92±15.78 to 77.20±17.35 µm (p<0.001; -1.18±1.93 µm/year) in injected eyes and from 79.95±17.91 to 76.61±17.97 µm (p<0.001; -1.07±0.98 µm/year) in uninjected eyes. In a multivariable linear mixed model of injected eyes, only higher baseline RNFL thickness (p < 0.001) significantly predicted higher absolute RNFL thickness loss. Neither absolute RNFL thickness variation (p=0.716) nor RNFL rate (p=0.779) was significantly different between paired injected and uninjected eyes. Absolute IOP variation was not significantly different between groups (16.62±4.77 to 15.09±4.34 mmHg in injected eyes and 17.68±5.01 to 14.50±3.39 mmHg in fellow uninjected eyes; p=0.248). The proportion of eyes receiving glaucoma medical treatment increased significantly in both groups (55.9% to 76.5% in injected eyes; p=0.039; 58.8% to 76.5% in uninjected eyes; p = 0.031). The number of glaucoma medications also increased significantly in both groups (1.03±1.11 to 1.59±1.18 glaucoma medications in injected eyes; p=0.003; 1.09±1.11 to 1.56±1.19 glaucoma medications in uninjected eyes; p=0.003). Conclusion: Repeated IVI do not seem to accelerate glaucomatous progression. Future studies with a longer follow-up are needed.

Cohen Syndrome: Novel VPS13B Genetic Variants in a Male Portuguese Patient with Pigmentary Retinopathy.

The purpose of this clinical report was to describe a case of Cohen syndrome with its classical ophthalmological manifestations and novel VPS13B genetic variants. A 39-year-old Caucasian male patient with severe rod-cone retinal dystrophy and no history of parental consanguinity was referred to our ophthalmology department. Ophthalmologic history included high bilateral myopia and a 3-year prior bilateral cataract surgery. Systemic history included facial dysmorphism, intellectual disability, transient neutropenia, microcephaly, truncal obesity, and joint hyperextensibility. The patient presented classic fundoscopic features of pigmentary retinopathy in both eyes (OU). Optical coherence tomography (OCT) revealed bilateral central and diffuse retinal pigment epithelium (RPE) and outer retinal atrophy without concomitant macular edema, while fluorescein angiography (FA) demonstrated diffuse RPE atrophy with prominent choroidal vessels. The full-field ERG (ffERG) showed no dark-adapted or light-adapted responses and the P50 wave was not identified in the pattern ERG (pERG). The genetic study revealed two novel heterozygous variants in the VPS13B gene: (1) c.5138T>C p.(Leu1713Pro) and (2) c.10179del p.(Asn3393Lysfs*37), thus confirming the diagnosis of Cohen syndrome. This case report introduces these two novel genetic variants to the literature, in a patient with classic phenotypic characteristics of Cohen syndrome, a rare genetic disease which has been increasingly reported since its first description in 1973.

New Promising Therapeutic Approach for Refractory Corneal Epithelial Defects.

The purpose of this case report is to describe a case of continuous wear of a gas-permeable mini-scleral contact lens with a fluid reservoir of autologous serum (AS) combined with AS drops as a successful empirical and accessible alternative therapeutic option for refractory persistent epithelial defects in a patient with severe neurotrophic keratopathy (NK) due to severe dry eye disease and chronic contact lens wear. A 61-year-old Caucasian female with bilateral NK presented a history of multiple episodes of bilateral persistent epithelial defects, having already been submitted to three tectonic-penetrating keratoplasties in her left eye (OS). In May 2017, the patient developed de novo refractory central neurotrophic ulcers in both eyes (OU), unresponsive to conventional treatment with preservative-free lubricants, topical antibiotics, topical anti-inflammatory agents, and oral doxycycline. By March 2018, after initiating hourly AS eyedrops, the ulcer in her right eye (OD) improved to a smaller ulcer, while her OS presented complete graft re-epithelialization. In May 2018, her OD neurotrophic ulcer was complicated with fungal and subsequent bacterial secondary infection. Eventually, a therapeutic penetrant keratoplasty was required for her OD. Subsequently, her OD graft developed a de novo 6x6mm central persistent epithelial defect unresponsive to all the aforementioned therapeutic strategies. After months of unsuccessful treatment, a new therapeutic option was experimented with: a gas-permeable mini-scleral contact lens in combination with AS eyedrops. After two weeks of this treatment regimen, the corneal epithelium eventually started to regenerate, and four weeks later, the cornea was completely re-epithelized. To date, there are no signs of recurrence of the corneal epithelial defect/ulcer.

When the picture masks the diagnosis - an atypical and severe giant cell arteritis case report.

PURPOSE: To describe an atypical and severe case of Giant Cell Arteritis (GCA). METHODS: Case report description. RESULTS: We report the case of a 76-year-old male who presented with severe and progressive bilateral visual loss. Upon presentation at the ophthalmology emergency room, the patient's right eye (OD) displayed aqueous flare, hyphema, rubeosis iridis, and dense posterior capsular opacification. After YAG laser capsulotomy, vitreous densifications, intraretinal hemorrhages, cotton wool spots, retinal ischemia and vasculitis were observed in the fundoscopy. The patient's left eye (OS) also presented intraretinal hemorrhages and cotton wool spots around the temporal arcades. The diagnostic workup excluded infectious diseases, demyelinating diseases, and ocular ischemic syndrome due to carotid obstruction. Proteinogram revealed a monoclonal gammopathy, suggesting a possible hematologic condition. High-dose corticotherapy was initiated, which improved the vitreous densifications and enabled the visualization of a OD pale optic disc. The remaining study did not confirm the diagnosis of hematologic disease. During follow-up, bilateral visual acuity deteriorated, with development of progressive pallor in the OS optic disc. Follow-up fluorescein angiography demonstrated progressive retinal and choroidal ischemia. Finally, due to high clinical suspicion, temporal artery doppler ultrasound was performed, confirming the diagnosis of GCA. CONCLUSION: GCA may present multiple ocular features. The knowledge of these different presentations, including retinal and choroidal ischemia or uveitis, is critical for timely diagnosis and treatment initiation. Since patients with GCA often present with vision loss, ophthalmologists may be the first medical doctors that contact with these patients, being on the frontline of GCA diagnosis.

Management of ocular arterial ischemic diseases: a review.

PURPOSE: To summarize the existing treatment options regarding central retinal artery occlusion (CRAO), branch retinal artery occlusion (BRAO), arteritic anterior ischemic optic neuropathy (AAION), non-arteritic anterior ischemic optic neuropathy (NAION), and ocular ischemic syndrome (OIS), proposing an approach to manage and treat these patients. METHODS: A systematic literature search of articles published since 1st January 2010 until 31st December 2020 was conducted using MEDLINE (PubMed), Scopus, and Web of Science. Exclusion criteria included case reports, non-English references, articles not conducted in humans, and articles not including diagnostic or therapeutic options. Further references were gathered through citation tracking, by hand search of the reference lists of included studies, as well as topic-related European society guidelines. RESULTS: Acute ocular ischemia, with consequent visual loss, has a variety of causes and clinical presentations, with prognosis depending on an accurate diagnosis and timely therapeutic implementation. Unfortunately, most of the addressed entities do not have a standardized management, especially regarding their treatment, which often lacks good quality evidence on whether it should or not be used to treat patients. CONCLUSION: Ophthalmologic signs and symptoms may be a warning sign of cardiovascular or cerebrovascular events, namely stroke. Most causes of acute ocular ischemia do not have a standardized management, especially regarding their treatment. Timely intervention is essential to improve the visual, and possibly vital, prognosis. Awareness must be raised among non-ophthalmologist clinicians that might encounter these patients. Further research should focus on assessing the benefit of the management strategies already being employed .

Tocilizumab as a Useful Tool for Thyroid Eye Disease in Pediatric Population: A Case Report.

Thyroid eye disease (TED) characterizes by inflammation and remodeling of orbital tissues. Although the majority of pediatric TED is mild, some children present progressive and severe disease. The approach to severe disease in this group of patients, especially when noncortico-responsive, is challenging. The purpose of this work was to describe the effective use of tocilizumab as second-line therapy in steroid-resistant pediatric TED. A 13-year-old female with a history of Graves' disease presented with right eye proptosis for at least 8 months associated with mild pain on eye movements and ocular surface complaints. The ophthalmologic evaluation revealed Hertel exophthalmometry readings of 22 mm on the right eye (OD) and 19 mm on the left (OS). The remaining ophthalmic examination was unremarkable. Intravenous methylprednisolone pulses of 500 mg were initiated without any improvement after 4 treatments. Following multidisciplinary team discussion, therapy was switched to monthly tocilizumab injections at 4 mg/kg. Significant reduction of proptosis and resolution of pain and ocular surface complaints were noted immediately after the treatment switch. Exophthalmometry readings after the end of treatment that included 4 tocilizumab injections were 20 mm on OD and 19 mm on OS. No side effects were reported during the entire follow-up. Six months after treatment cessation, the patient remains stable, without any signs of orbitopathy relapse and no ophthalmologic complaints. This is the second case report showing the effectiveness of tocilizumab in pediatric TED and the first one showing its efficacy when steroids fail. Our results support the potential safety and efficacy of this immunosuppressor in children with TED.

Rhino-Orbital Mucormycosis After COVID-19 Recovery: A Case Report.

The pandemic caused by SARS-CoV-2 remains a health care concern, despite vaccination programs. Mucormycosis, especially rhino-orbital-mucormycosis, has been described as a severe complication of COVID-19. Although it has been described mostly in India and other developing countries, few cases in the western world have also been described. We present a case of rhino-orbito-mucormycosis after recovery from severe COVID-19 in Portugal. A 75-year-old diabetic and obese man presented with right proptosis associated with right eye pain and low vision one month after recovery from severe COVID-19. Considering the most probable etiology for this clinical picture, anti-fungal therapy with liposomal amphotericin B was promptly initiated, followed by endoscopic sinus debridement. However, due to persistent and progressive infection, and after a multidisciplinary revision of the case, orbital exenteration was performed. One year after surgery, the patient is stable, without clinical or imagological signs of relapse of the disease. Although the evolution of the pandemic, along with vaccination programs, led to a lower incidence of severe COVID-19 disease, there are still patients presenting with severe COVID-19, requiring intensive care and at risk for serious complications. This case illustrates the importance of being aware of the development of post-COVID-19 mucormycosis and the need for close surveillance of patients recovering from severe COVID-19. COVID-19 prompt diagnosis and multidisciplinary approach are essential for a timely intervention achieving better survival while minimizing morbidity.

Prevalence and Area of Retinal Pigment Epithelium and Outer Retinal Atrophy in Eyes with Non-Exudative Macular Neovascularization.

PURPOSE: The objective of this study wasto assess the prevalence of complete retinal pigment epithelium (RPE) and outer retinal atrophy (cRORA) in patients with unilateral exudative age-related macular degeneration (AMD) of the fellow eye and establish if the presence of non-exudative macular neovascularization (NE-MNV) influences the prevalence of RPE and outer retinal atrophy in eyes with AMD. METHODS: This is an observational cross-sectional study of 68 patients with unilateral exudative AMD. Demographic and clinical data were collected, and multimodal retinal imaging was performed in all patients. Two groups of patients were defined according to the presence (NE-MNV) or absence (no NE-MNV) of NE-MNV in the study eye. We compared the prevalence of tomographic cRORA and fundus autofluorescence (FAF) geographic atrophy (GA) and differences in cRORA greatest linear diameter (GLD) and GA area between groups. RESULTS: Globally, cRORA was present in 11 eyes (16.2%), FAF GA was present in 10 eyes (14.7%), and NE-MNV was present in 10 eyes (14.7%) of patients with unilateral exudative AMD of the fellow eye. The overall cRORA GLD was 1,950.64 ± 1,428.31 µm, and the mean area of GA was 9.25 ± 7.50 mm2. Regarding comparisons between groups, cRORA was present in 9 eyes (15.5%) without NE-MNV and in 2 eyes (20%) with NE-MNV (p = 0.66). Tomographic signs of atrophy were more frequent in eyes with NE-MNV (50% vs. 24.1% in eyes without NE-MNV; p = 0.008). No significant differences were found in cRORA GLD (p = 0.30) between groups. Eyes with NE-MNV and eyes without NE-MNV had a similar prevalence of FAF GA (2 eyes out of 10 and 8 eyes out of 58, respectively; p = 0.64). Eyes with NE-MNV had a smaller mean area of GA (2.07 ± 0.24 mm2 vs. 11.05 ± 7.34 mm2; p = 0.01). CONCLUSION: In our study, the presence of NE-MNV was not associated with the prevalence of cRORA and/or FAF GA. Nonetheless, eyes with NE-MNV presented smaller areas of GA, which suggests that this type of neovascularization may prevent the progression of RPE and outer retinal atrophy. Longitudinal studies are required to confirm these preliminary results.

Increased Choroidal Thickness in Morquio Syndrome.

The purpose of this clinical case report is to describe a case of mucopolysaccharidosis type IVA (MPS IVA), or Morquio syndrome, with increased choroidal thickness in enhanced-depth imaging optical coherence tomography (EDI-OCT) which can represent choroidal deposition of glycosaminoglycans (GAGs). A 21-year-old male with genetically confirmed diagnosis of MPS IVA was examined at our Pediatric Ophthalmology clinic as part of our follow-up protocol for MPS patients. His best-corrected visual acuity was 4/10 in his right eye (OD) and 6/10 in the left eye (OS). Mild diffuse corneal opacification was evident. Intraocular pressure was within normal range. Fundus examination and color fundus photography revealed no abnormalities. EDI-OCT revealed significantly increased choroidal thickness in his right eye and in his left eye, suggesting the presence of choroidal deposition of GAGs, despite absence of retinal or optic disc GAG deposition or other chorioretinal involvement. To our knowledge, this is the first case of MPS IVA described in the literature with suspected choroidal deposition of GAGs. With improved control of systemic features of MPS IVA, life expectancy of these patients has increased, allowing for more ocular manifestations to develop. The parallel development of technology in ophthalmology, such as the EDI-OCT, further contributes to the detection of these unprecedented ocular features in MPSs.

Macular Changes in a Mucopolysaccharidosis Type I Patient with Earlier Systemic Therapies.

PURPOSE: To describe retinal findings in a patient with mucopolysaccharidosis type I (MPS I) that underwent an early treatment with hematopoietic stem cell transplantation (HSCT) and enzyme replacement therapy (ERT). Case Report. We describe a case of a 12-year-old female with a biochemical and genetic diagnosis of MPS I. She underwent HSCT and ERT on the first year of life. The visual acuity was 5/10 in both eyes and she had bilateral grade 2 corneal haze. Spectral domain optical coherence tomography (SD-OCT) revealed thickening of the external limiting membrane (ELM) at the fovea. In the parafoveal and perifoveal regions, SD-OCT displayed a loss of the interdigitation, ellipsoid, and myoid zones and of the ELM accompanied by progressive thinning of the outer nuclear layer. Fundus infrared imaging revealed a hyperreflective ring centred on the fovea and hyporeflective areas in temporal parafoveal regions in both eyes. En face OCT imaging revealed two hyperreflective rings on the outer retinal level. CONCLUSION: This patient developed macular changes with foveal deposition of hyperreflective material and parafoveal thinning, despite early systemic treatment. Systemic therapies can provide an increase in life expectancy and stabilize visual acuity and corneal clouding, although their effect on retinal degeneration is unknown.

Long-term progression of geographic atrophy in age-related macular degeneration does the phakic status matter?

PURPOSE: To assess the long-term risk of geographic atrophy (GA) progression after cataract surgery. METHODS: Subjects with GA secondary to AMD followed for at least 1 year with fundus autofluorescence imaging and with at least two visits at our centre were included. Patients with wet AMD, disciform scar, past history of intravitreal injections or laser treatment, other maculopathies and with poor quality images were excluded. GA area at baseline and at follow-up visit was measured. Three study groups were defined according to their phakic status: (A) pseudophakia, (B) phakic and (C) phacoemulsification surgery performed during the study. Differences of GA area progression were compared between these study groups. In addition, comparison between GA progression rate in group (C) before and after the surgery was performed. The enlargement rate (ER) was calculated for lesion size after transforming the measurements to the square-root scale. RESULTS: A total of 92 eyes of 92 patients were enrolled. Median follow-up time was 4 [1-10] years. Regarding the eye's phakic status, 29 (31.5%) were pseudophakic and 63 (68.5%) were phakic; of these, 22 underwent phacoemulsification during the study. Overall, the median baseline and follow-up area of GA were 1.42 [0.04-32.10] mm2 and 6.48 [0.25-47.40] mm2, respectively. The ER was similar between phakic and pseudophakic eyes (0.18 [0.01-1.03] vs 0.15 [0.01-0.65] mm/year, p = 0.62). In patients that underwent cataract surgery during the study, the GA ER remained stable (0.13 [0.01-0.92] vs 0.14 [0.01-0.63] mm/year, p = 0.43). CONCLUSION: These results suggest that cataract surgery does not increase the risk of pre-existing GA progression. Therefore, cataract surgery seems safe and a potential therapeutic weapon to improve visual acuity and consequently quality of life in GA patients.

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.

Childhood-Onset Leber Hereditary Optic Neuropathy: Particular Features.

BACKGROUND: Leber hereditary optic neuropathy (LHON) is an optic neuropathy of mitochondrial inheritance. Childhood-onset disease is relatively rare and there are limited data on this important patient subgroup. CASE PRESENTATION: We present 3 particular presentations of LHON. Patient 1 was an 8-year-old boy admitted to the emergency department reporting a progressive bilateral visual loss and intermittent headaches. Neuro-ophthalmological examination revealed a bilateral pseudopapilledema. Lumbar puncture identified intracranial hypertension and the brain and orbits magnetic resonance imaging showed T2 hyperintensity in the posterior region of the left optic nerve and the optic chiasm. Patient 2 was a 12-year-old boy admitted to the emergency department reporting painless, progressive central vision loss in the right eye. Fundus examination revealed a hyperemic disc and vascular network papillary and peripapillary vascular microdilations. Three months later, the left eye presented visual loss. Patient 3 was a 6-year-old female child referred to the neuro-ophthalmology specialist due to painless central visual loss in both eyes. Her BCVA was 1/10 and counting fingers in right and left eye, respectively, and fundus examination revealed a pallor optic disc in the temporal sector. DISCUSSION: The phenotype of childhood-onset disease may present itself distinct from classical adult-onset LHON. The absence of classical clinical features could lead to initial misdiagnosis. There should exist a high index of suspicion in children presenting unexplained subnormal vision in order to avoid potential diagnostic delays.

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.