Correlation between the serum concentration of vitamin A and disease severity in patients carrying p.G90D in RHO, the most frequent gene associated with dominant retinitis pigmentosa : implications for therapy with vitamin A

Krašovec, Tjaša (author), Kobal, Nina (author), Šuštar Habjan, Maja (author), Volk, Marija (author), Hawlina, Marko (author), Fakin, Ana (author)

The pathogenic variant p.G90D in RHO is believed to be responsible for a spectrum of phenotypes, including congenital stationary blindness (for the purpose of this study termed night blindness without degeneration; NBWD), Sector RP, Pericentral RP, and Classic RP. We present a correlation between the serum concentration of vitamin A and disease severity in patients with this variant. This prospective study involved 30 patients from 7 families (17 male; median age 46 years, range 8–73). Full ophthalmological examination including visual acuity, Goldmann perimetry, slit-lamp exam, optical coherence tomography, fundus autofluorescence, and electrophysiology was performed to determine the presenting phenotype. The serum concentration of vitamin A was determined from a fasting blood sample taken on the day of the exam, where it was found that 23.3% (7/30) of patients had NBWD, 13.3% (4/30) had Sector RP, 3.3% (1/30) had Pericentral RP, and 60% (18/30) had Classic RP. Multiple logistic regression revealed a significantly higher probability of having a milder phenotype (NBWD or Sector RP) in association with younger age (p < 0.05) and a higher concentration of vitamin A (p < 0.05). We hypothesize that vitamin A in its 11-cis-retinal form plays a role in stabilizing the constitutively active p.G90D rhodopsin and its supplementation could be a potential treatment strategy for p.G90D RHO patients.

• Language: English
• Keywords: retinitis pigmentosa, RP, vitamin A, CSNB, NBWD, congenital stationary night blindness, rhodopsin, RHO, sector RP, treatment
• Work type: Article
• Typology: 1.01 - Original Scientific Article
• Organization: MF - Faculty of Medicine
• Publication status: Published
• Publication version: Version of Record
• Year: 2023
• Number of pages: 14 str.
• Numbering: Vol. 24, iss. 1, art. 780
• PID: 20.500.12556/RUL-155549
• UDC: 617.7
• ISSN on article: 1422-0067
• DOI: 10.3390/ijms24010780
• COBISS.SI-ID: 147522819
• Publication date in RUL: 05.04.2024

Record is a part of a journal

• Title: International journal of molecular sciences
• Shortened title: Int. j. mol. sci.
• Publisher: MDPI
• ISSN: 1422-0067
• COBISS.SI-ID: 2779162

Licences

• License: CC BY 4.0, Creative Commons Attribution 4.0 International
• Link: http://creativecommons.org/licenses/by/4.0/
• Description: This is the standard Creative Commons license that gives others maximum freedom to do what they want with the work as long as they credit the author.

Secondary language

• Language: Slovenian
• Keywords: pigmentni retinitis, RP, vitamin A, CSNB, NBWD, prirojena stacionarna nočna slepota, rodopsin, RHO, sektor RP, zdravljenje

Projects

• Funder: ARRS - Slovenian Research Agency
• Project number: J3-1750
• Name: Priprava pogojev za gensko zdravljenje dednih očesnih bolezni