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This study is aimed at describing a patient with unilateral retinal pigment epithelium dysgenesis (URPED) using multimodal retinal imaging combined with ocular microperimetry and multifocal electroretinogram (ERG) analysis. A 56-year-old healthy male was referred for a routine ophthalmologic control. His best corrected visual acuity was 20/20 and 20/25 in the right and left eye, respectively. Fundus examination of the left eye revealed a well-circumscribed, large yellowish-white lesion on the posterior pole that extended from the peripapillary region to the inferior temporal vascular arcade, sparing the fovea. This characteristic fundus picture led us to the diagnosis of URPED. Microperimetry demonstrated a progressive decrease of sensitivity from the normal retina toward the lesion borders, reaching a value of 0 dB at its center. Multifocal ERG displayed a reduction of central amplitudes in the involved eye. Our findings indicate a varied degree of sensitivity at the site of the lesion. Despite good visual acuity, multifocal ERG revealed reduced macular function.
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http://dx.doi.org/10.1155/crop/7911612 | DOI Listing |
Case Rep Ophthalmol Med
August 2025
Department of Ophthalmology, Fluminense Federal University (UFF), Niteroi, Rio de Janeiro, Brazil.
This study is aimed at describing a patient with unilateral retinal pigment epithelium dysgenesis (URPED) using multimodal retinal imaging combined with ocular microperimetry and multifocal electroretinogram (ERG) analysis. A 56-year-old healthy male was referred for a routine ophthalmologic control. His best corrected visual acuity was 20/20 and 20/25 in the right and left eye, respectively.
View Article and Find Full Text PDFDoc Ophthalmol
June 2025
Ocular Tissue Engineering Laboratory, Lions Eye Institute, 2 Verdun Street, Nedlands, WA, Australia.
Purpose: To describe multimodal imaging and electrophysiology features of CTNNA1-associated retinal dystrophy in a family with p.(Leu318Ser) substitution.
Methods: Three family members including a 48-year-old male proband, his 52-year-old sister, and their 67-year-old mother, were evaluated with multimodal imaging and electrophysiology.
Am J Ophthalmol Case Rep
December 2024
Genomic Laboratory, Umraniye Training and Research Hospital, University of Health Sciences, Istanbul, Turkey.
Purpose Of Review: We review the latest screening and diagnostic techniques, and the most recent recommendations on the management of hydroxychloroquine retinopathy.
Recent Findings: Hydroxychloroquine (HCQ) has been shown to cause retinal toxicity in a dose-dependent fashion. Early diagnosis is critical as the resultant retinopathy is not reversible.
BMC Ophthalmol
August 2024
Department of Ophthalmology, Southwest Hospital of Army Medical University, Chongqing, 400038, China.
Background: Occult Macular Dystrophy (OMD), primarily caused by retinitis pigmentosa 1-like 1 (RP1L1) variants, is a complex retinal disease characterised by progressive vision loss and a normal fundus appearance. This study aims to investigate the diverse phenotypic expressions and genotypic correlations of OMD in Chinese patients, including a rare case of Vitelliform Macular Dystrophy (VMD) associated with RP1L1.
Methods: We analysed seven OMD patients and one VMD patient, all with heterozygous pathogenic RP1L1 variants.