The DOI matches its Crossref record; 11 of the 11 references it cites were found in a registry or an index.
A novel homozygous frameshift variant in the cellular retinaldehyde-binding protein 1 ( RLBP1 ) gene causes retinitis punctata albescens
Abstract
Background: Retinitis punctata albescens is a form of retinitis pigmentosa characterized by white fleck-like deposits in the fundus, in most cases caused by pathogenic variants in RLBP1 gene. The purpose of this work is to report the phenotypic and genotypic data of a patient with retinitis punctata albescens carrying a deletion in the RLBP1 gene. Results: An 8-year-old Caucasian female has been complaining of nyctalopia for the last 2 years. No other ocular symptoms were present. No relevant past medical or familiar history was described. At clinical examination, the patient’s best-corrected visual acuity was 20/20 in both eyes. Anterior segment evaluation and intraocular pressure were normal in both eyes. At fundoscopy, multiple punctate whitish-yellow fleck-like lesions were observed in the proximity of temporal superior and inferior vascular arcades. Scotopic electroretinogram demonstrated severely reduced rod response, without improvement or recovery of rod system function after prolonged dark adaptation. Blood DNA samples of this patient and from her parents were screened for causal variants in RLBP1, RDH5, and PRPH2. Conclusion: A probable pathogenic frameshift variant was identified in homozygosity in the RLBP1 gene with an autosomal recessive transmission as another cause of retinitis punctata albescens. This DNA variant will aid ongoing functional studies and add to our understanding of the molecular pathology about RLBP1-associated retinopathies.
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“They have been associated with a number of autosomal recessive retinal dystrophies, including RP, fundus albipunctatus, Bothnia dystrophy, Newfoundland rod-cone dystrophy and retinitis punctata albescens [150,159,160].”
From The Role of Vitamin A in Retinal Diseases (2022) · cites this paper as [160]
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Cites
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Early-Onset Foveal Involvement in Retinitis Punctata Albescens With Mutations in RLBP1
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Phenotype variations of retinal dystrophies caused by mutations in the RLBP 1 gene
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The Role of Vitamin A in Retinal Diseases
Sajovic, J., Meglič, A., Glavač, D., Markelj, Š., Hawlina, M., & Fakin, A. (2022) · International Journal of Molecular Sciences · doi:10.3390/ijms23031014 · Cited by 109
The electroretinogram in the genomics era: outer retinal disorders
Cornish, E. E., Vaze, A., Jamieson, R. V., & Grigg, J. (2021) · Eye · doi:10.1038/s41433-021-01659-y · Cited by 38
Vagge, A., Desideri, L. F., Carnevali, A., Noce, C. D., Camposampiero, D., Agrusta, M., Ponzin, D., Pellegrini, M., Vaccaro, S., Nicolò, M., et al. (2021) · Ophthalmology and Therapy · doi:10.1007/s40123-021-00384-9 · Cited by 14
Bianco, L., Antropoli, A., Benadji, A., Condroyer, C., Antonio, A., Navarro, J., Sahel, J., Zeitz, C., & Audo, I. S. (2024) · American Journal of Ophthalmology · doi:10.1016/j.ajo.2024.06.016 · Cited by 10
Khan, M., Shah, S., Lv, B., Lv, Z., Ji, N., Song, Z., Wu, P., Wang, X., & Mehmood, A. (2022) · Ocular Immunology and Inflammation · doi:10.1080/09273948.2022.2112238 · Cited by 8
Metadata
- Authors
- Torres-Costa, S., Ferreira, C. S., Grangeia, A., Santos-Silva, R., Brandão, E., Estrela-Silva, S., & Falcão-Reis, F.
- Affiliations
- Hospital de São João (PT)
- Department of Ophthalmology, São João Hospital University Center, Porto, Portugal
- Corresponding author
- Torres-Costa, Sónia
- Venue
- European Journal of Ophthalmology
- Publisher
- SAGE Publications
- Published
- 2020-04-28
- Volume
- 31
- Issue
- 3
- Pages
- NP74-NP80
- ISSN
- 1120-6721 (ISSN-L)
- 1724-6016
- OpenAlex
- W3017495113
- Cited by
- 8
- References
- 11
- Citations by year
- 2025: 1 · 2024: 2 · 2022: 3 · 2021: 2
- FWCI
- 0.41
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- European Journal of Ophthalmology (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Health Sciences › Medicine › Ophthalmology › Retinal Development and Disorders
- Health Sciences › Medicine › Ophthalmology › Retinal Diseases and Treatments
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Kidney Cyst Diseases
- Keywords
- retinitis punctata albescens, RLBP1, frameshift mutation, homozygous deletion, retinitis pigmentosa, autosomal recessive inheritance, night blindness, rod photoreceptor dysfunction, scotopic electroretinogram, RDH5, PRPH2
- MeSH terms
- Carrier Proteins, Child, Electroretinography, Female, Humans, Mutation, Retinal Diseases, Retinaldehyde
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