ABSTRACT Lamb-Shaffer syndrome (LAMSHF) is a rare condition characterized by neurodevelopmental disorders caused by haploinsufficiency of the SOX5 gene on chromosome 12p12. Clinically, it manifests itself with growth retardation, global neurodevelopmental delay, speech delay, dysmorphic facial features, and musculoskeletal, cardiac, and genitourinary abnormalities. Although frequent, the ophthalmological presentations of this syndrome are not well established in the literature. In this study, we aim to report a new case of this rare condition, highlighting the ophthalmological aspects of its condition.

ABSTRACT This report aims to present classical and pathognomonic ocular changes, sequelae, and complications in a patient with Virchowian leprosy diagnosed in 2008 and undergoing their first ophthalmological evaluation in 2023. Leprosy is an infectious disease caused by Mycobacterium leprae, more prevalent in underdeveloped countries, with Brazil being the second most prevalent country worldwide. Cutaneous and peripheral nerve involvement are very common. However, ocular manifestations, which most frequently occur in patients with a long course of the disease in the […]

ABSTRACT Objective: To report the frequency of ocular manifestations in patients undergoing direct-acting antiviral therapy and assess treatment safety based on outcomes; to identify demographic variables associated with hepatitis C virus infection; evaluate treatment effectiveness through sustained virological response. Methods: A prospective cohort study was conducted involving chronic hepatitis C patients undergoing direct-acting antiviral therapy. Ophthalmological evaluations were conducted before treatment initiation and upon completion. Patients were advised to return in case of any visual symptoms. Results: The study comprised […]

ABSTRACT Amyloidosis is a rare disease in which ocular involvement may occur as an isolated event or associated with a systemic disease. This paper describes two clinical cases of ophthalmologic manifestations of amyloidosis: a bilateral eyelid lesion similar to xanthelasma and tarsal conjunctival disease similar to follicular conjunctivitis. The anatomopathological analysis confirmed the diagnosis.

ABSTRACT Tay-Sachs Disease is an autosomal recessive neurodegenerative disorder, which involves the metabolism of lipids, leading to the accumulation of gangliosides in the tissues, due to the deficiency of the enzyme Hexosaminidase A. This progressive deposit results in loss of neurological function and, when it affects macula ganglion cells, it causes the typical disease finding, the “cherry red spot”. The pathology is diagnosed through the levels of Hex A and total Hexosaminidase in the serum, in addition to the analysis […]

ABSTRACT Objective: To assess asthenopic symptoms and sociodemographic factors, behavioral and clinical aspects in college lecturers during the COVID-19 pandemic. Methods: This is a cross-sectional study evaluating asthenopia in 104 lecturers. Some validated visual symptom questionnaires were adapted for data collection. Lecturers were compared regarding the occurrence or not of asthenopic symptoms, and binary logistic regression was applied to measure the association with independent variables (p

ABSTRACT At the end of the twentieth century, with the emergence of new technologies and new space programs, aerospace medicine gained prominence in the scientific community since studies related to changes in human physiology in space have become increasingly necessary for the maintenance of cosmonaut health. The eyes are considered one of the most sensitive structures in the body to vascular, structural and biochemical changes caused by microgravity and cosmic radiation. In this sense, this narrative review seeks to identify […]

IgG4-Related Disease is an immunomediated condition that is characterized by the presence of inflammatory lesions associated with fibrosis and lymphoplasmacytic infiltration rich in positive IgG4 tissue plasmocytes, forming a spectrum of fibroproliferative diseases. The pathogenesis of IgG4-RD is still poorly understood and the treatment is empirical. We report the case of a 50-year-old man with yellow eyelid lesions associated with local edema, previously diagnosed as an allergic process, until biopsy with immunohistochemical study and serum IgG4 dosage revealed the hypothesis […]