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.
journal_name
Eur J Ophthalmoljournal_title
European journal of ophthalmologyauthors
Torres-Costa S,Ferreira CS,Grangeia A,Santos-Silva R,Brandão E,Estrela-Silva S,Falcão-Reis Fdoi
10.1177/1120672120919064subject
Has Abstractpub_date
2020-04-28 00:00:00pages
1120672120919064eissn
1120-6721issn
1724-6016pub_type
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journal_title:European journal of ophthalmology
pub_type: 杂志文章
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pub_type: 杂志文章
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pub_type: 临床试验,杂志文章,随机对照试验
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journal_title:European journal of ophthalmology
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pub_type: 杂志文章,多中心研究,随机对照试验
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journal_title:European journal of ophthalmology
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journal_title:European journal of ophthalmology
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