Ocular findings in a Spanish cohort of myotonic dystrophy type 1.

PURPOSE: Myotonic dystrophy type 1 is the most common muscular dystrophy in adulthood, caused by a triplet repeat in chromosome 19q13.3. The present study investigates the frequency of the different ocular alterations in Spanish patients with DM1 and its relationship with the severity of the genetic alteration. METHODS: Cross-sectional and multicenter study was conducted on patients with genetically confirmed DM1. Ophthalmologic examinations included visual acuity assessment, manifest refraction, slit-lamp biomicroscopy, tonometry, ocular motility, corneal tomography, and macular and optic nerve optical coherence tomography. RESULTS: A total of 42 patients (84 eyes) were included. Mean age was 46.9 ± 13.4 (SD) years, and 57.1% were women. Fifteen patients had undergone cataract surgery in at least one eye (35.7%), and 13 (30.9%) had significant cataract. Mean intraocular pressure (IOP) was 10.5 ± 2.9 mmHg, and mean central corneal thickness (CCT) was 580.04 ± 48.61 µm. Half of the patients had significant ptosis, and 8 patients (9.75%) had undergone eyelid surgery. Macular abnormalities included retinal pigment epithelium alterations in 8 eyes of 6 patients, epiretinal membrane in 3 eyes, and lamellar hole in 2 eyes. A moderate correlation was found between IOP and ptosis with the number of triplet repeats. CONCLUSION: Early cataract onset, low IOP, thicker CCT, and ptosis were the most significant manifestations of DM in our sample. Correlation found between IOP and ptosis with CTG repeat could be interesting in order to improve diagnosis and medical care of these patients but should be confirmed in further studies.

Binocular Visual Field and Vision-Related Quality of Life in Patients With Hemianopia.

BACKGROUND: Hemianopias can have a severe impact on functional ability and quality of life (QoL). Binocular visual field (VF) analysis is clinically more relevant to visual function than monocular VF. The aim is to analyze the binocular VF of patients with hemianopias and its association with the monocular VF and to assess the QoL of these patients through questionnaires specifically related to vision compared with healthy controls. METHODS: The case-control study included patients with hemianopias and controls. Sex, age, general history, etiology, location of the lesion, and time since the lesion appeared were recorded. Monocular VF and Esterman binocular VF were performed. VF defect, mean defect (MD), and Esterman scores were recorded. Visual Activities Questionnaire (VAQ-33) and Visual Function Questionnaire (VFQ-25) questionnaires were administered. RESULTS: Twenty patients with hemianopia and 22 healthy controls were included. The Esterman score in homonymous hemianopia patients (n = 17) correlated with best eye MD (r = -0.62, P = 0.01), worst eye MD (r = -0.70, P = 0.002), and average MD (r = -0.68, P = 0.003). Compared with healthy control subjects, patients with homonymous hemianopia had significantly lower VFQ-25 score and in 10/12 subscales (all P < 0.001). VAQ-33 scores revealed lower overall and subscales scores with the exception of light/dark adaptation (P = 0.08). Correlations were found between monocular and binocular VF scores and general vision (r = -0.55), peripheral vision (on both questionnaires, r-range -0.75 to 0.47), VFQ-25 and VAQ-33 overall scores (r = -0.59, -0.49 and 0.50), and glare disability (r = 0.53 and 0.67). CONCLUSIONS: Hemianopic VF defects involve a major alteration in the patients' vision-related QoL.

Efficacy and Safety of Standard Corneal Cross-Linking Procedures Performed With Short Versus Standard Riboflavin Induction: A Save Sight Keratoconus Registry Study.

PURPOSE: The objective of this study was to compare the effectiveness and safety of short versus standard riboflavin induction times in cross-linking (CXL) for keratoconus. METHODS: A retrospective comparative study was conducted with data from the Save Sight Keratoconus Registry. Inclusion criteria were epithelium-off technique, standard UVA CXL protocol (3 mW/cm 2 for 30 minutes), riboflavin induction for 15 minutes (short) or 30 minutes (standard), and 1 year of follow-up data after CXL. Outcome measures included changes in best-corrected visual acuity (BCVA), keratometry in the steepest meridian (K2), maximum keratometry (Kmax), thinnest pachymetry (TCT), and adverse events. Analysis was conducted using mixed-effects regression models adjusted for age, sex, visual acuity, keratometry, pachymetry, practice, and eye laterality. RESULTS: Two hundred eighty eyes (237 patients; mean, 27.3 ± 10.5 years old; 30% female) were included. The riboflavin induction time was short in 102 eyes (82 patients) and standard in 178 eyes (155 patients). The baseline characteristics (sex, mean age, BCVA, keratometry, and pachymetry [TCT]) were similar between the groups. At the 1-year follow-up visit, no statistically significant differences were observed in flattening in K2 and improvement in BCVA. Greater Kmax flattening [-1.5 diopters (D) vs. -0.5D, P = 0.031] and a greater proportion of >2% increase in TCT (23.5 vs. 11.3, P = 0.034) and haze (29 vs. 15, P = 0.005) were observed with short riboflavin induction. CONCLUSIONS: Short and standard riboflavin induction times achieved similar degrees of flattening in K2 and improvement in vision. Greater improvements in Kmax and TCT were seen with short riboflavin times; however, this group had higher rates of haze.

Case Report: Use of Amniotic Membrane for Tectonic Repair of Peripheral Ulcerative Keratitis With Corneal Perforation.

Purpose: To provide a perspective and surgical video demonstration of peripheral corneal ulceration and perforation managed with multilayered amniotic membrane transplantation. Case Reports: Case 1 describes a 48-year-old female with progressive redness and pain, and an inferonasal corneal thinning and perforation in the left eye from peripheral ulcerative keratitis. She underwent conjunctival recession with amniotic membrane inlay and onlay (Sandwich technique) transplantation. The amniotic membrane integrated well, and her Snellen visual acuity improved from 6/21 preoperatively to 6/9 at 3 months post op. Case 2 describes a 78-year-old male with redness and pain with temporal corneal thinning bilaterally and perforation in the right eye from peripheral ulcerative keratitis. Both eyes underwent similar surgical intervention with smooth integration of the amniotic membrane in the cornea and improvement in the visual acuity. Both patients were also started on systemic immunosuppression in collaboration with the rheumatology team. Conclusion: We report successful use of multilayered amniotic membrane transplantation for the treatment of corneal ulceration and perforation. The authors believe the simplicity of the surgical technique, easier access to amniotic membrane tissue, and lower induced post-operative astigmatism all provide advantages over alternative treatment modalities.

Medium-Term Failure of Descemet's Stripping Only and Fuchs' Dystrophy With Pancorneal Guttae.

PURPOSE: The purpose of this study was to report the medium-term outcome of our index case of Descemet stripping only (DSO) in the clinical setting of Fuchs endothelial corneal dystrophy with pancorneal guttae. METHODS: This was a retrospective case report. RESULTS: A 44-year-old woman with bilateral Fuchs endothelial corneal dystrophy was referred for consideration of DSO. At initial slit-lamp examination, widespread guttae were observed with no clear zone visible. Confocal microscopic examination also failed to isolate a population of undisturbed endothelial cells. DSO with supplemental ripasudil was performed with corneal clearance achieved at 2.5 months. A stable result was obtained for 18 months with a subsequent slow decline in vision and return of diurnal fluctuation. At 3.5 years after DSO, DMEK was performed with resolution of symptoms. CONCLUSIONS: Medium-term failure in this clinical setting is further evidence that DSO is likely best offered to patients with central guttae but a clear corneal periphery, indicative of a healthy cell reservoir.

Retinal Vein Occlusion in a Patient on Dabrafenib and Trametinib Therapy for Metastatic Melanoma.

The purpose of this case report is to highlight the ocular complications of dabrafenib and trametinib treatment. We discuss the case of an 81-year-old female treated with dabrafenib and trametinib for metastatic melanoma, who developed a retinal branch vein occlusion with macular edema in the right eye. The other eye was healthy. The treatment was discontinued and her macular edema was managed with a loading dose of three injections of anti-vascular endothelial growth factor (anti-VEGF) medication with a good response. The use of BRAF and MEK inhibitors is increasingly becoming widespread, and hence it is important to report cases of these adverse effects to achieve earlier diagnoses and initiate fast and effective treatments.

Peripheral ulcerative keratitis as presenting manifestation of systemic microscopic polyangiitis: a case report.

Microscopic polyangiitis is a rare autoimmune disease of unknown etiology, characterized by inflammation and necrosis of blood vessels. It forms a part of the antineutrophil cytoplasmic antibody-associated vasculitides-a heterogeneous group of disorders characterized by vasculitis. It is a systemic disease affecting multiple organs. The patients may present with a wide variety of symptoms. Ocular manifestations may present as its initial clinical symptoms, necessitating a multidisciplinary approach for reducing the morbidity and mortality. Early diagnosis aids in the formulation of appropriate treatment and prevention of further complications. Aggressive treatment, including surgery, is often necessary to limit structural damage and preserve visual function. We present the case of an 82-year-old woman who initially presented with peripheral ulcerative keratitis that led to the diagnosis of microscopic polyangiitis.

Corneal densitometry and biomechanical properties in patients with primary congenital glaucoma.

OBJECTIVE: To describe corneal densitometry, topographic measurements, and biomechanical properties in patients with primary congenital glaucoma (PCG) and healthy patients. To examine correlations between variables and determine their glaucoma diagnostic capacity. METHODS: This was a cross-sectional, case-control study conducted in 50 eyes of 50 patients with PCG (G1) and 40 eyes of 40 healthy patients (G2). The variables determined in each participant were: intraocular pressure, best corrected visual acuity (BCVA), corneal densitometry, topographic data using the Pentacam HR-Scheimpflug imaging system (Oculus Optikgerate GmbH, Wetzlar, Germany), and corneal hysteresis (CH) and corneal resistance factor (CRF) using the Ocular Response Analyzer (Reichert Ophthalmic Instruments, Depew, NY). RESULTS: Overall densitometry was significatively higher in the PCG group (G1: 17.94 ± 4.99 vs G2: 13.25 ± 1.96, p < 0.001). CH (G1: 8.02 ± 11.35 vs G2: 11.35 ± 1.42, p < 0.001) and CRF (G1: 9.48 ± 2.83 vs G2: 10.77 ± 1.34, p < 0.001) were lower in the glaucoma group. Mean posterior, central, and anterior elevation and mean keratometry were higher in G1 (p < 0.05). In the PCG group, overall densitometry showed significant correlation with CH (r = -0.321, p = 0.028) and with BCVA (r = -0.498, p = 0.002). AUCs (areas under the curve) for CH and overall densitometry were high (0.839 and 0.899 respectively) and the best overall densitometry; CH and CRF cutoffs were 14.0, 9.3 and 9.2 respectively. CONCLUSION: Densitometry is increased, and biomechanical corneal properties are decreased in patients with PCG. Densitometry and visual acuity showed a negative and significant correlation, so this measurement could be used as an indirect parameter of BCVA in the clinical practice.

Panuveitis and Optic Neuritis as a Possible Initial Presentation of the Novel Coronavirus Disease 2019 (COVID-19).

OBJECTIVE: To describe the ocular manifestations in a case of novel coronavirus disease 2019 (COVID-19). MATERIAL AND METHODS: A case of unilateral panuveitis and optic neuritis as initial presentation of COVID-19. RESULTS: As it is published, angiotensin-converting-enzyme-2 receptors can be found in many organs, such as the eyes, nerves, and vessels, so extrapulmonary involvement would be expected. According to current evidence and clinical characteristics of the patient, uveitis and optic neuritis could be produced by the virus. CONCLUSIONS: It is fundamental to consider panuveitis and optic neuritis as an unusual presentation of ocular involvement in COVID-19 so proper care can be given to the patients.

Cataract extraction in patients with primary congenital glaucoma.

OBJECTIVE: To assess incidence and risk factors of cataract extraction in patients with primary congenital glaucoma, surgical outcome, and complications. MATERIAL AND METHOD: Retrospective cohort study, in which 108 patients with primary congenital glaucoma were included. Data collected were need for cataract extraction and at what age, intraocular pressure at diagnosis of primary congenital glaucoma, required antiglaucomatous surgeries, possible mutation in the CYP1B1 gene, and final visual acuity. Among the patients who required cataract extraction were visual acuity, intraocular pressure, and complications, evaluated preoperatively and postoperatively. The data were analysed with STATA. RESULTS: A total of 198 eyes of 108 patients were included, with a median follow-up of 8 years (range: 5-53). In all, 32 eyes (16.2%) of 24 patients (22%) required cataract extraction. The median age for cataract extraction was 12.94 years (interquartile range: 2.42-22). The main identified risk factors associated with cataract extraction were antiglaucomatous surgeries (hazard ratio 1.48, p < 0.001) and valvular implant (hazard ratio 2.78, p < 0.001). Lens was implanted in 30/32 eyes and the main complications were intraocular pressure decontrol (n = 13), capsular fibrosis (n = 7), corneal decompensation (n = 4), lens subluxation (n = 4), and endophthalmitis (n = 1). Visual acuity improvement was observed after cataract extraction in 66.67% of eyes. CONCLUSIONS: There is a high incidence of cataract surgery in patients with primary congenital glaucoma, but generally outside of pediatric age. A greater risk of cataract extraction was identified in those patients with a greater number of antiglaucomatous surgeries, especially after valvular implantation. Despite the high rate of complications related to cataract extraction in primary congenital glaucoma, good visual improvement was observed after surgery.

Corneal Topographic, Anatomic, and Biomechanical Properties in Severe Obstructive Sleep Apnea-Hypopnea Syndrome.

PURPOSE: To determine corneal topographic, anatomic, and biomechanical properties in patients newly diagnosed with severe obstructive sleep apnea-hypopnea syndrome (OSAHS). METHODS: This is a cross-sectional study including 25 patients recently diagnosed with severe OSAHS (apnea-hypopnea index above 30) and a paired control group of 25 healthy subjects. All patients underwent a complete eye examination with an elevation topography Pentacam Scheimpflug study and a study with Reichert Ocular Response Analyzer, collecting several topographic, anatomic, and biomechanical variables. RESULTS: Fifty eyes of 25 patients (23 of them were men) diagnosed with OSAHS by somnography and the same number of healthy subjects (23 of them were men) were included, with an average age of 64 ± 11 years (range 45-78 years) for cases and an average age of 64 ± 11 years (range 45-81 years) for the controls. No differences were found in keratometry, cylinder, refractive indexes, Bad-D, or pachymetry. The mean corneal volume for cases was 58.64 ± 3.05 mm and for the controls 60.48 ± 3.33 mm (P = 0.005). The mean minimum radius for cases was 7.49 ± 0.31 and for the controls 7.36 ± 0.30 (P = 0.035). The mean elevation in apex for cases was 8.46 ± 5.18 and for the controls 2.38 ± 2.36 (P ≤ 0.001). Two eyes with a topographic diagnosis of keratoconus (KC) and another 6 with subclinical KC were detected using the Pentacam in the OSAHS group. CONCLUSIONS: Many of the corneal topographic and biomechanical variables in patients with severe OSAHS present different values from the general population with a trend toward KC values, such as keratoconus index or paired keratoconus index. Compared with the control group, significant differences were found in corneal volume, corneal elevation, and minimum radius.

Confocal Microscopy Observation of Cornea Verticillata After Vandetanib Therapy for Medullary Thyroid Carcinoma.

PURPOSE: To report 2 cases of cornea verticillata (CV) after vandetanib treatment for medullary thyroid carcinoma (MTC). METHODS: In this retrospective interventional, case-report study, 2 patients who under vandetanib treatment for MTC were referred to our ophthalmology department because of vision complaints. Both subjects underwent a complete ophthalmologic examination, including confocal microscopy (CM) using the Heidelberg Retina Tomograph and Rostock Cornea Module. RESULTS: A 70-year-old man and a 43-year-old woman, both with a history of MTC under treatment with vandetanib for 5 months and 30 months, respectively, presented with blurred vision. In both patients, a mild CV pattern was observed although deposits were more evident in the male patient. CM images showed hyperreflective deposits in the corneal epithelium and subepithelial nerve plexus. Bright microdots were also seen throughout the stroma, along with a few hyperreflective keratocytes in the anterior stroma. CONCLUSIONS: In both patients, vandetanib seemed to be the cause of CV. The CM images supported the idea of drug-lipid complex deposits in vandetanib-induced CV.

Peripheral ulcerative keratitis as presenting manifestation of systemic microscopic polyangiitis: a case report / Ceratite ulcerativa periférica como manifestação de poliangiíte microscópica sistêmica: relato de caso

ABSTRACT Microscopic polyangiitis is a rare autoimmune disease of unknown etiology, characterized by inflammation and necrosis of blood vessels. It forms a part of the antineutrophil cytoplasmic antibody-associated vasculitides-a heterogeneous group of disorders characterized by vasculitis. It is a systemic disease affecting multiple organs. The patients may present with a wide variety of symptoms. Ocular manifestations may present as its initial clinical symptoms, necessitating a multidisciplinary approach for reducing the morbidity and mortality. Early diagnosis aids in the formulation of appropriate treatment and prevention of further complications. Aggressive treatment, including surgery, is often necessary to limit structural damage and preserve visual function. We present the case of an 82-year-old woman who initially presented with peripheral ulcerative keratitis that led to the diagnosis of microscopic polyangiitis.

RESUMO A poliangeíte microscópica é uma doença autoimune rara de etiologia desconhecida, caracterizada por inflamação e necrose dos vasos sanguíneos. Faz parte das vasculites associadas a anticorpos citoplasmáticos antineutrófilos - um grupo heterogêneo de doenças caracterizadas por vasculite. É uma doença sistêmica que afeta vários órgãos. Os pacientes podem apresentar uma grande variedade de sintomas. As manifestações oculares podem apresentar-se como seus sintomas clínicos iniciais, necessitando de abordagem multidisciplinar para redução da morbimortalidade. O diagnóstico precoce ajuda na formulação do tratamento adequado e na prevenção de complicações futuras. O tratamento agressivo, incluindo cirurgia, muitas vezes é necessário para limitar o dano estrutural e preservar a função visual. Apresentamos o caso de uma mulher de 82 anos que inicialmente apresentou ceratite ulcerativa periférica que levou ao diagnóstico de poliangite microscópica.