A novel homozygous frameshift variant in the cellular retinaldehyde-binding protein 1 (RLBP1) gene causes retinitis punctata albescens

• Type: Article in International Scientific Journal
• Date: 2020

Authors

Torres Costa, S (Author) Other; Ferreira, CS (Author) Other; Grangeia, A (Author) Other; Santos Silva, R (Author) FMUP; Brandao, E (Author) Other; Estrela Silva, S (Author) Other; Falcão-Reis F (Author) FMUP

Journal

Title: European Journal of Ophthalmology

Vol. 31

Pages: NP74-NP80

ISSN: 1120-6721

Publisher: WICHTIG PUBLISHING

Indexing

ISI Web of Knowledge - 4 Citations

Scopus - 4 Citations

Other information

Authenticus ID: P-00S-664

DOI: 10.1177/1120672120919064

Abstract (EN): 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.

Language: English

Type (Professor's evaluation): Scientific

No. of pages: 7