To report a case of macular chorioretinal atrophy associated with Stickler syndrome in a pediatric patient with a genetically confirmed mutation. A single case was evaluated. A 3-year-old girl was found to have macular chorioretinal atrophy in the right eye and a retinal detachment in the left eye.
View Article and Find Full Text PDFTo understand the environmental burden associated with intravitreal injections (IVIs) and propose actionable solutions to mitigate this impact. An analysis of current IVI practices was conducted, focusing on packaging waste, energy consumption, the carbon footprint, and disposal processes. Data on the environmental footprint of IVIs were collected from the literature and industry reports.
View Article and Find Full Text PDFBackground: Pseudoxanthoma elasticum (PXE) is characterized by aberrant calcification of elastic tissues throughout the body causing varying degrees of skin, cardiac, and ocular disease. Although PXE is classically regarded as an autosomal recessive disease, recent reports have demonstrated a haploinsufficiency phenotype, in which carriers of monoallelic ATP-binding cassette transporter () gene mutations demonstrate mild manifestations of PXE. In this case report, we describe a patient with a monoallelic mutation and atypical angioid streaks.
View Article and Find Full Text PDFJ Pediatr Ophthalmol Strabismus
December 2024