ABSTRACT
ABSTRACT Ocular cysticercosis is a parasitic infection caused by Taenia solium. Its early diagnosis and treatment decreases the possibility of visual morbidity. It can either compromise the anterior chamber or the posterior segment, which translates into an very variable and interspecific presentation that changes depending on the site of the infection. It is important to report this case due to its low presentation rate and the fact that a high suspicion index is required to make an assertive and timely diagnosis. This is especially important in geographical areas that are endemic to this parasite due to the direct relationship between an early diagnosis and treatment and better visual outcomes. In this case report, we will discuss the multidisciplinary interventions of a pediatric patient in a high complexity hospital.
RESUMO A cisticercose ocular é uma infecção parasitária causada pela Taenia solium. O diagnóstico e tratamento precoces diminuem a possibilidade de morbidade visual. Ela pode comprometer a câmara anterior ou o segmento posterior, o que se traduz em uma apresentação muito variável e interespecífica, que muda dependendo do local da infecção. É importante relatar esse caso devido à sua baixa taxa de apresentação e ao fato de que é necessário um alto índice de suspeita para fazer um diagnóstico assertivo e oportuno. Isso é especialmente importante em áreas geográficas endêmicas para esse parasita, devido à relação direta entre diagnóstico e tratamento precoces e melhores resultados visuais. Neste relato de caso, discutiremos as intervenções multidisciplinares de um paciente pediátrico em um hospital de alta complexidade.
Subject(s)
Humans , Female , Child, Preschool , Cysticercosis/diagnosis , Eye Infections, Parasitic/diagnosis , Retinoblastoma/diagnosis , Vitrectomy , Vitreous Body/cytology , Magnetic Resonance Imaging , Ultrasonography , Taenia solium , Diagnosis, DifferentialABSTRACT
In this report, we describe a case of timely gas vitrectomy to displace a moderate submacular hemorrhage from the submacular space without tPA, release vitreoretinal traction along the borders of a posterior retinal tear, and analyze postoperative multimodal imaging findings in a 34-year-old male patient whose right eye was injured by a stone. The patient underwent a successful nontissue plasminogen activator gas vitrectomy 3 days after the accident. A multimodal evaluation with spectral-domain optical coherence tomography (SD-OCT), 10-2 and 30-2 campimetry, microperimetry, multifocal electroretinography (mfERG), and visual evoked potentials was performed 6 months after the accident. The multimodal imaging tests yielded abnormal foveal SD-OCT patterns, with a fibrous sealed tear in the retinal pigment epithelium. Campimetry showed low levels of retinal sensitivity; microperimetry and mfERG revealed a subnormal retinal response and a reduction in the N1 and P1 wave amplitudes. The visual evoked potential responses were normal. Multidisciplinary examination at 6 months postoperatively revealed a structurally and functionally abnormal macula. The retina remained attached. Our functional findings indicate that submacular hemorrhage should be treated in a timely manner to minimize photoreceptor damage.
ABSTRACT
BACKGROUND: Retinal dystrophies (RDs) are one of the most genetically heterogeneous monogenic disorders with ~270 associated loci identified by early 2019. The recent application of next-generation sequencing (NGS) has greatly improved the molecular diagnosis of RD patients. Genetic characterization of RD cohorts from different ethnic groups is justified, as it would improve the knowledge of molecular basis of the disease. Here, we present the results of genetic analysis in a large cohort of 143 unrelated Mexican subjects with a variety of RDs. METHODS: A targeted NGS approach covering 199 RD genes was employed for molecular screening of 143 unrelated patients. In addition to probands, 258 relatives were genotyped by Sanger sequencing for familial segregation of pathogenic variants. RESULTS: A solving rate of 66% (95/143) was achieved, with evidence of extensive loci (44 genes) and allelic (110 pathogenic variants) heterogeneity. Forty-eight percent of the identified pathogenic variants were novel while ABCA4, CRB1, USH2A, and RPE65 carried the greatest number of alterations. Novel deleterious variants in IDH3B and ARL6 were identified, supporting their involvement in RD. Familial segregation of causal variants allowed the recognition of 124 autosomal or X-linked carriers. CONCLUSION: Our results illustrate the utility of NGS for genetic diagnosis of RDs of different populations for a better knowledge of the mutational landscape associated with the disease.
Subject(s)
Genetic Heterogeneity , Mutation , Retinal Dystrophies/genetics , ADP-Ribosylation Factors/genetics , ATP-Binding Cassette Transporters/genetics , Extracellular Matrix Proteins/genetics , Eye Proteins/genetics , Gene Frequency , Genotype , Humans , Isocitrate Dehydrogenase/genetics , Membrane Proteins/genetics , Mexico , Nerve Tissue Proteins/genetics , Retinal Dystrophies/pathology , cis-trans-Isomerases/geneticsABSTRACT
El artículo presenta el caso de una mujer de 49 años de edad sin antecedentes patológicos con proptosis axial progresiva izquierda de un año de evolución asociada a dolor ocular, sin cambios en la agudeza visual, sin limitación en los movimientos oculares ni diplopía. Con imágenes sugestivas de seudotumor versus schwannoma versus hemangioma cavernoso orbitario versus dermoide intraconal. Fue llevada a resección de masa vía orbitotomía anterior transconjuntival. Esta fue una lesión compatible histológicamente con hamartoma neuromuscular (tumor de tritón benigno).
This article shows the case of a 49-year-old woman with no medical history, developed a progressive left axial proptosis associated with ocular pain. There are no changes to visual acuity, limitation of eye movement or diplopia. The diagnostic images may suggest one of the following: pseudotumor, schwannoma, orbital cavernous hemangioma or intraconal dermoid. The resected specimen was taken via anterior transconjuntival orbitotomy. Microscopic examination of the tumor showed a neuromuscular hamartoma (benign triton tumor).
Subject(s)
Humans , Neoplasms , Choristoma , HamartomaABSTRACT
El queratocono es una condición ectásica de la córnea, que se ha descrito desde hace muchos años, y en los últimos años ha despertado mucho interés por el desarrollo de la cirugía refractiva. Clásicamente se ha considerado como un proceso no inflamatorio y se disponen varias definiciones, considerando si es un desorden clínico, topográfico o biomecánico. Los nuevos enfoques de esta enfermedad, no sólo consideran los procesos conocidos relacionados con la posible patogenia, como la alergia ocular y el frote de los párpados, sino que además consideran que se puede tratar de un problema inflamatorio crónico, relacionados con los procesos de microtrauma corneal. En esta revisión se pretende hacer una exploración de estos conceptos y relacionarlos con los conceptos clásicos de la enfermedad.
Keratoconus is a corneal ectatic disorder that has been described several years ago, and in recent times has aroused much interest in it because the development of refractive surgery. It has traditionally been considered a noninflammatory process and various definitions are provided, considering whether it is a clinical, topographic or biomechanical approach. New approaches to this disease, not only considering the known processes related to the possible pathogenesis, such as allergy and eye rubbing of the eyelids, but also the theory that it can be related to a chronic inflammatory condition related to the processes of corneal microtrauma. This review is intended to make an exploration of these concepts and relate them to the classical concepts of disease.
