Purpose: To describe multimodal imaging findings, including fundus autofluorescence, in a patient with a growing choroidal osteoma.
Methods: Case report.
Results: A 13-year-old girl presented with an asymptomatic lesion in the superonasal macula of her left eye. Vision was correctable to 20/20 in both eyes, and the only significant finding on examination was the yellow flat lesion in the left macula. It measured 0.8-disk areas in size. Ocular coherence tomography showed a space occupying lesion in the choroid that had horizontal hyper-reflective lines consistent with cancellous bone. Re-examination in a year showed enlargement. Fundus autofluorescence showed no abnormalities in either eye. Ultrasonography showed a hyper-reflective lesion with associated shadowing that was consistent with a choroidal osteoma.
Conclusion: Normal fundus autofluorescence was seen in this young girl with a growing choroidal osteoma. Fundus autofluorescence is a proxy for the health of the retinal pigment epithelium. Normal retinal pigment epithelium is the only factor found to be predictive of future growth of a choroidal osteoma. This noninvasive test may prove useful as a guide to determine frequency of examinations especially in younger patients who might be prone to more rapid growth.
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http://dx.doi.org/10.1097/ICB.0000000000000874 | DOI Listing |
Ophthalmic Genet
December 2024
Department of Ophthalmology, Bascom Palmer Eye Institute, Miami, Florida, USA.
Background: 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 PDFPharmacol Res Perspect
February 2025
Hamamatsu Pharma Research, Inc., Hamamatsu, Shizuoka, Japan.
The lack of effective treatments for dry age-related macular degeneration (AMD) is in part due to a lack of a preclinical animal model that recapitulates features of the clinical state including macular retinal pigment epithelium (RPE) degeneration, also known as geographic atrophy (GA). A nonhuman primate model of GA was developed and its responsiveness to an approved treatment, avacincaptad pegol (ACP), a complement C5 inhibitor, was evaluated. Intravitreal (ivt) administration of sodium iodate (SI) into one eye of male Macaca fascicularis leads to retinal areas (mm) of hyper- or hypo-autofluorescence.
View Article and Find Full Text PDFPediatr Dev Pathol
December 2024
Department of Human Genetics, National Institute of Pediatrics, Mexico City, Mexico.
Neuronal ceroid lipofuscinosis type 2 (CLN2) results from biallelic pathogenic variants in the gene, leading to deficient activity of the lysosomal enzyme tripeptidyl peptidase 1. We report an autopsy case of CLN2 characterized at molecular level. The patient exhibited a spectrum of neurologic symptoms including epilepsy, behavioral alterations, cognitive regression, motor impairment, and visual loss.
View Article and Find Full Text PDFCesk Slov Oftalmol
December 2024
Purpose: To analyze patients with optic disc drusen (ODD), with emphasis on modern diagnostics.
Materials And Methods: Research of the literature was conducted, together with a retrospective statistical analysis of patients with ODD. The group included individuals with ODD diagnosed using at least one of the following (ultrasound - USG, optical coherence tomography - OCT, fundus autofluorescence - FAF).
Acta Ophthalmol
December 2024
Department of Ophthalmology, Landesklinikum Mistelbach-Gänserndorf, Mistelbach, Austria.
Purpose: To assess the impact of the ratio between photoreceptor (PR) loss and retinal pigment epithelium (RPE) loss on the progression of geographic atrophy (GA) and to explore correlations between abnormal fundus autofluorescence (FAF) patterns and the PR-RPE loss ratio.
Design: Single-centre, retrospective case series.
Methods: Multimodal images from 87 treatment-naïve patients with GA and a follow-up of 6-24 months were included.
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