Two cases of retinitis albescens with macular involvement are reported. Fundus changes and functional examination has been taken into account for the differential diagnosis of the condition from fundus albipunctatus cum hemeralopia.
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Mol Ther
December 2024
Institute for Neurosciences of Montpellier (INM), University of Montpellier, Inserm, 34091 Montpellier, France; National Reference Centre for Inherited Sensory Diseases, University of Montpellier, Montpellier University Hospital, 34090 Montpellier, France. Electronic address:
Cureus
February 2024
Ophthalmology, Jawaharlal Nehru Medical College, Datta Meghe Institute of Higher Education and Research, Wardha, IND.
This case report emphasizes the varied clinical features of Laurence-Moon-Bardet-Biedl syndrome (LMBBS) in a 10-year-old girl, presenting a rare combination of atypical retinitis punctata albescens, polydactyly, central obesity, and non-alcoholic fatty liver disease (NAFLD). Despite extensive management efforts, the patient's visual impairment remained unchanged, highlighting the challenging and progressive nature of LMBBS, particularly its ocular manifestations. Genetic counseling played a crucial role, stressing the significance of early genetic analysis in consanguineous marriages for anomaly detection and informed family planning.
View Article and Find Full Text PDFFASEB J
March 2023
The Division of Ophthalmology and Vision Science, Department of Ophthalmology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, China.
The dysfunction of CRALBP, a key regulator of the visual cycle, is associated with retinitis punctata albescens characterized by night vision loss and retinal degeneration. In this paper, we find that the expression of CRALBP is regulated by heat shock protein 90 (HSP90). Inhibition of HSP90α or HSP90β expression by using the CRISPR-Cas9 technology downregulates CRALBP's mRNA and protein expression in ARPE-19 cells by triggering the degradation of transcription factor SP1 in the ubiquitin-proteasome pathway.
View Article and Find Full Text PDFMedicine (Baltimore)
December 2022
Department of Ophthalmology, Mie University Graduate School of Medicine, Tsu, Japan.
Purpose: Bardet-Biedl Syndrome (BBS) is an autosomal recessive systemic disorder characterized by retinitis pigmentosa, polydactyly, obesity, intellectual disability, renal impairments, and hypogonadism. The purpose of this study was to determine the ocular characteristics of a boy with BBS caused by a novel homozygous variant in the ARL6 (alternative named BBS3) gene who had been originally diagnosed with retinitis punctata albescens.
Methods: This was an observational case study.
Ocul Immunol Inflamm
November 2023
Department of Neurology, the Second Hospital of Hebei Medical University, City Shijiazhuang, P.R. China.
Background: Short interspersed nuclear elements (SINEs) and long interspersed nuclear elements (LINE-1s) are the abundant and well-characterized repetitive elements in the human genome.
Methods: For this review, all relevant original research studies were assessed by searching electronic databases, including PubMed, Google Scholar, and Web of Science, by using relevant keywords. Accumulating evidence indicates that the disorder of gene expression regulated by these repetitive sequences is one of the causes of the diseases of visual system dysfunction, including retinal degenerations, glaucoma, retinitis punctata albescens, retinitis pigmentosa, geographic atrophy, and age-related macular degeneration, suggesting that SINEs and LINE-1s may have great potential implications in ophthalmology.
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