Purpose: To analyze the genetic findings, clinical spectrum, and natural history of Best vitelliform macular dystrophy (BVMD) in a cohort of 222 children and adults.
Design: Single-center retrospective, consecutive, observational study.
Participants: Patients with a clinical diagnosis of BVMD from pedigrees with a likely disease-causing monoallelic sequence variant in the BEST1 gene.
Methods: Data were extracted from electronic and physical case notes. Electrophysiologic assessment and molecular genetic testing were analyzed.
Main Outcome Measures: Molecular genetic test findings and clinical findings including best-corrected visual acuity (BCVA), choroidal neovascularization (CNV) rates, and electrophysiologic parameters.
Results: Two hundred twenty-two patients from 141 families were identified harboring 69 BEST1 variants. Mean age at presentation was 26.8 years (range, 1.3-84.8 years) and most patients (61.5%) demonstrated deterioration of central vision. Major funduscopic findings included 128 eyes (30.6%) with yellow vitelliform lesions, 78 eyes (18.7%) with atrophic changes, 49 eyes (11.7%) with fibrotic changes, 48 eyes (11.5%) with mild pigmentary changes, and 43 eyes (10.3%) showing a vitelliruptive appearance. Mean BCVA was 0.37 logarithm of the minimum angle of resolution (logMAR; Snellen equivalent, 20/47) for the right eye and 0.33 logMAR (Snellen equivalent, 20/43) for the left eye at presentation, with a mean annual loss rate of 0.013 logMAR and 0.009 logMAR, respectively, over a mean follow-up of 9.7 years. Thirty-seven patients (17.3%) received a diagnosis of CNV over a mean follow-up of 8.0 years. Eyes with CNV that received treatment with an anti-vascular endothelial growth factor (VEGF) agent showed better mean BCVA compared with eyes that were not treated with an anti-VEGF agent (0.28 logMAR [Snellen equivalent, 20/38] vs. 0.62 logMAR [Snellen equivalent, 20/83]). Most eyes exhibited a hyperopic refractive error (78.7%), and 13 patients (6.1%) received a diagnosis of amblyopia. Among the 3 most common variants, p.(Ala243Val) was associated with a later age of onset, better age-adjusted BCVA, and less advanced Gass stages compared with p.(Arg218Cys) and p.(Arg218His).
Conclusions: BVMD shows a wide spectrum of phenotypic variability. The disease is very slowly progressive, and the observed phenotype-genotype correlations allow for more accurate prognostication and counselling.
Financial Disclosure(s): Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.
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http://dx.doi.org/10.1016/j.ophtha.2024.01.027 | DOI Listing |
BMC Public Health
January 2025
Department of Statistics, Borana University, Borena, Oromia Region, Ethiopia.
Introduction: Hypertension is among the most significant non-communicable public health issues worldwide. High blood pressure, or hypertension, has been associated with severe health consequences, including death, aneurysms, stroke, chronic renal disease, eye damage, heart attack, heart failure, peripheral artery disease, and vascular dementia. Consequently, this study aimed to investigate the predictors linked to survival time and the progression of blood pressure measurements in hypertensive patients.
View Article and Find Full Text PDFActa Pharmacol Sin
January 2025
Laboratory for Neurophysiology, Department of Cell and Chemical Biology, Leiden University, Medical Centre, Leiden, 2333, ZC, The Netherlands.
Daylength (i.e., photoperiod) provides essential information for seasonal adaptations of organisms.
View Article and Find Full Text PDFSci Rep
January 2025
Department of Ophthalmology, School of Medicine, University of Pittsburgh, Pittsburgh, PA, USA.
To assess the choroidal vessels in healthy eyes using a novel three-dimensional (3D) deep learning approach. In this cross-sectional retrospective study, swept-source OCT 6 × 6 mm scans on Plex Elite 9000 device were obtained. Automated segmentation of the choroidal layer was achieved using a deep-learning ResUNet model along with a volumetric smoothing approach.
View Article and Find Full Text PDFOphthalmic Physiol Opt
January 2025
Department of Ophthalmology, Shanghai General Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Purpose: To explore the longitudinal changes in retinal and choroidal thickness and their relation with the onset of type 1 diabetes mellitus (T1DM) in children.
Methods: Thirty-eight children with T1DM and 71 healthy controls were included in this 3-year longitudinal study. Ophthalmic and systemic examinations were conducted on each participant.
Br J Ophthalmol
January 2025
Department of Neurosciences, Imaging and Clinical Sciences, University "G. d'Annunzio" Chieti-Pescara, Chieti, Italy.
Purpose: To quantitatively explore preretinal abnormal tissue (PAT) in macula-on rhegmatogenous retinal detachment (RRD) before and after surgery.
Methods: In this case-series study, PAT was detected by en-face optical coherence tomography images with custom slabs in eyes that underwent pars plana vitrectomy and SF6 for macula-on RRD.Main outcome measures were PAT area at baseline, 3-month and 6-month follow-up, and its relative change.
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