Leber's hereditary optic neuropathy (LHON) causes subacute visual loss, and, in the acute phase, the optic disc shows hyperemia, peripapillary telangiectasia, and swelling of the retinal nerve fiber layer (RNFL). Rarely, retinal hemorrhage may be present. In this study, we investigated LHON cases with retinal hemorrhage in the acute phase. Among 82 cases (164 eyes) of LHON who visited the Inoue Eye Hospital, retinal hemorrhage was observed in 5 cases (5 eyes). The age at onset was 36 (27-46) years, with 4 male cases. Mitochondrial DNA analysis revealed the presence of the m.11778G > A variant in four patients and the m.14484T > C variant in one patient. There was no medical history and no excessive smoking or alcohol consumption in any of the cases. In all cases, retinal hemorrhages were observed in the RNFL, accompanying the characteristic optic disc findings of LHON. Fluorescein angiography performed in three cases showed no leakage from the optic disc or blood vessels. While rare, the presence of retinal hemorrhage along the RNFL during the acute phase of LHON should be recognized, as it may warrant consideration of alternative diagnoses.
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http://dx.doi.org/10.1080/01658107.2024.2389957 | DOI Listing |
Pediatr Emerg Care
March 2025
Department of Radiology, Division of General Pediatrics, Clinical Futures, Children's Hospital of Philadelphia.
Objectives: To assess the frequency and yield of retinal examination in children below 2 years old undergoing abuse evaluations in the setting of skull fracture(s) and small underlying intracranial hemorrhage.
Methods: This cross-sectional study used CAPNET, a multicenter child physical abuse network, to identify children below 2 years with a skull fracture(s) and intracranial injury limited to an underlying small focal intracranial hemorrhage undergoing subspeciality child abuse evaluations. Our outcomes of interest were (1) the performance of a retinal examination, (2) the identification of retinal hemorrhages, and (3) associations of clinical factors and CAPNET site with the performance of retinal examinations.
Ophthalmic Genet
March 2025
Ophthalmology, Royal Victorian Eye and Ear Hospital, East Melbourne, Australia.
Background: ROSAH syndrome is an autosomal dominant systemic disease featuring etinal dystrophy, ptic nerve edema, plenomegaly, nhidrosis and migrainous eadache. Ocular manifestation of ROSAH syndrome can simulate posterior uveitis, vasculitis, generalized retinal dystrophy and neuroretinitis.
Purpose: To report a case of a 17-year-old female presenting with recurrent vitreous hemorrhage on a background of dental anomalies and anhidrosis.
Cureus
February 2025
Internal Medicine, Faculdade de Medicina, Universidade de Lisboa, Centro Académico de Medicina de Lisboa, Lisboa, PRT.
Silicone oil, commonly used as a temporary intraocular tamponade in retinal detachment repair, may have retrobulbar migration as a possible complication of the procedure to the cerebral ventricles. This report presents the case of a 73-year-old male patient with multiple cardiovascular risk factors and diffuse atherosclerotic disease who underwent vitrectomy of the left eye several years earlier due to retinopathy and was diagnosed through retrospective analysis of all cerebral imaging studies, with the migration of silicone oil particles, from the vitreous humor of the eye to the intraventricular space. He was admitted due to transient altered consciousness in the context of a probable seizure, with acute hyperdensity in the temporal horn of the left lateral ventricle observed in the cranial computed tomography (CT), suggestive of hemorrhage, along with signs of prior hemorrhage in the frontal horn of the same ventricle.
View Article and Find Full Text PDFJ Fr Ophtalmol
March 2025
Sulochana Eye Clinic, Kolhapur, India.
Objective: To investigate and describe the clinical presentation and outcomes of a case series with possible retinal laser injury following recreational laser shows and assess their attributability to laser exposure.
Design: Multi-center case series.
Subjects: All consecutive eyes with reported laser exposure from recreational laser show and confirmed retinal injury presenting between May 2022 and April 2023.
Epilepsia Open
March 2025
Department of Neurosurgery, Epilepsy Center, Tsinghua University Yuquan Hospital, Beijing, China.
Objective: To summarize the clinical features of collagen type IV alpha 1/2 chain (COL4A)1/2-related epilepsy and the seizure outcomes of patients undergoing epilepsy surgery.
Methods: We retrospectively analyzed the clinical, electroencephalography, and neuroimaging data; genetic characteristics; surgical details; and prognosis of 8 patients (4 boys) treated for COL4A1/2-related epilepsy at Tsinghua University Yuquan Hospital.
Results: Two of the probands had COL4A1 variants and six had COL4A2 variants.
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