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 We report the first case of successful bilateral cataract surgery performed under modified topical anesthesia in an adolescent with Down syndrome and a difficult airway. Airway management under general anesthesia (GA) for this patient population presents significant challenges, including increased risk of adverse intraoperative and postoperative events. This report details our innovative anesthetic approach, termed trained topical anesthesia (TTA), which facilitated uneventful successive cataract surgery in both eyes. The success of this approach highlights the importance of comprehensive psychological […]

ABSTRACT Thygeson’s keratitis is a chronic bilateral inflammation of the cornea, characterized by recurrent intraepithelial opacities, intense photophobia, and visual fluctuations, especially in children. Topical corticosteroids are effective, but their prolonged use carries risks and frequent recurrences. We report the case of an 11-year-old girl with refractory Thygeson’s keratitis treated with topical tacrolimus 0.03%. After an initial response to corticosteroids, an early recurrence occurred within 15 days. With the introduction of tacrolimus, there was complete resolution of signs and symptoms, […]

ABSTRACT This is a case report of a patient with tuberous sclerosis who has been followed since the age of 8 months. An ophthalmological examination revealed left eyelid ptosis and a lesion consistent with retinal astrocytoma. Imaging studies, including magnetic resonance imaging and computed tomography, demonstrated multiple abnormalities such as cortical-subcortical lesions, subependymal nodules, callosal dysgenesis, and probable renal cysts. The patient also presented with refractory epilepsy, developmental delay, and frequent seizures. Correlating the clinical and radiological findings with the […]

ABSTRACT The objective of this study is to report a case of complicated gonococcal conjunctivitis with keratitis. A patient presented to the ophthalmologic emergency department of the Clinical Hospital at the Federal University of Minas Gerais with purulent discharge from the right eye, ocular hyperemia, pain, and low visual acuity that had started 2 days before. An ophthalmologic examination revealed a visual acuity of counting fingers to face in the right eye. Biomicroscopy revealed purulent discharge, ocular hyperemia, chemosis and […]

ABSTRACT Rothmund-Thomson Syndrome (RTS) is a rare congenital disorder with fewer than 300 cases reported in the literature, characterized by dermatological, skeletal, and ophthalmological abnormalities, as well as a predisposition to osteosarcoma. This study describes the ophthalmological findings of an 11-year-old patient diagnosed with RTS who was referred to the ophthalmology service due to decreased visual acuity. Based on a review of the scientific literature and analysis of the patient’s medical records, the case highlights the ocular manifestations associated with […]

ABSTRACT This case report aimed to describe the Tolosa-Hunt syndrome in a patient infected with chikungunya and highlight the relevance of considering chikungunya as a possible cause of the Tolosa-Hunt syndrome, especially in endemic or epidemic infection sites. A 63-year-old female patient diagnosed with chikungunya 2 months earlier was being followed up by a general practitioner. She had painful ophthalmoplegia associated with eyelid ptosis in the left eye (LE) for 1 month. Intraocular pressure (IOP) of 20 and 26 mmHg. […]

ABSTRACT This case report describes the clinical presentation and management of a 38-day-old infant referred to the Ophthalmology Service for evaluation of conjunctival hyperemia, corneal opacity, and eyelid edema in the left eye. The patient was initially diagnosed by the pediatrician with bacterial conjunctivitis and was prescribed a combination of topical corticosteroid and antibiotic drops, with worsening of symptoms over the following five days. Ophthalmologic examination revealed moderate conjunctival hyperemia and an extensive corneal lesion with a clear base and […]