A 64-year-old white man had many large bilateral vitelliform-like lesions. A normal electroretinogram, abnormal elector-oculogram, and a pattern of blocked choroidal fluorescence were obtained. The yellowish appearance of the lesions progressed to absorption of yellow material and mottling with maintenance of relatively good visual acuity.
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http://dx.doi.org/10.1016/0002-9394(76)90429-3 | DOI Listing |
Eye (Lond)
January 2025
Division of Experimental Retinal Therapies, Department of Clinical Sciences, University of Pennsylvania, School of Veterinary Medicine, Philadelphia, PA, 19104, USA.
In this review, we summarize the findings of several pre-clinical studies in the canine BEST1 disease model. To this end, client-owned and purpose bred dogs that were compound heterozygotes or homozygotes, respectively, for two or one of 3 different mutations in BEST1 were evaluated by ophthalmic examination, cSLO/sdOCT imaging, and retinal immunohistochemistry to characterize the clinical and microanatomic features of the disease. Subsequently AAV-mediated gene therapy was done to transfer the BEST1 transgene to the RPE under control of a hVMD2 promoter.
View Article and Find Full Text PDFCureus
December 2024
Ophthalmology, Ramsay Health Care, Mount Stuart Hospital, Torquay, GBR.
Macular degeneration (MD) is a pathological condition affecting the macula, an area located near the center of the retina. This disease affects individuals of all ages, both children and adults, causing severe visual impairment. Age-related macular degeneration (AMD) is the leading cause of visual loss in the older population while Stargardt disease (SD) is the most common hereditary maculopathy with an autosomal dominant pattern of inheritance.
View Article and Find Full Text PDFRetin Cases Brief Rep
January 2025
Cole Eye Institute, Cleveland Clinic, Cleveland, Ohio.
Purpose: Best vitelliform macular dystrophy is an inherited macular dystrophy associated with over 250 pathogenic variants of the Bestrophin-1 ( BEST1 ) gene. Although several types of lesions of best vitelliform macular dystrophy are well-described, reports of phenotypic variations associated with rare genetic variants are limited.
Methods: This was a retrospective case series performed in 2021 at a tertiary eye care center.
Invest Ophthalmol Vis Sci
December 2024
Department of Ophthalmology, Tufts University School of Medicine, Boston, Massachusetts, United States.
Purpose: The purpose of this study was to define genotypic-phenotypic correlations related to PRPH2-associated retinopathies in an observational longitudinal cohort and to improve diagnostic accuracy.
Methods: Individuals with PRPH2 variants were identified by genetic sequencing of 263 individuals (including 59 families). Ocular examinations with multimodal imaging were evaluated.
Invest Ophthalmol Vis Sci
November 2024
Department of Ophthalmology, Hadassah-Hebrew University Medical Center, and the Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem, Israel.
Purpose: Adult-onset foveomacular vitelliform dystrophy (AFVD) shares phenotypic similarities with age-related macular degeneration (AMD). The genetic factors associated with AFVD are unknown in >80% of cases. This study evaluated the association of known AMD genetic risk variants with AFVD and compared systemic complement activation in these conditions.
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