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  • 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 [Elektronski vir] : implications for therapy with vitamin A
    Krašovec, Tjaša ...
    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, slitlamp 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.
    Vir: International journal of molecular sciences [Elektronski vir]. - ISSN 1422-0067 (Vol. 24, iss. 1, 2023, str. 1-14)
    Vrsta gradiva - e-članek
    Leto - 2023
    Jezik - angleški
    COBISS.SI-ID - 147522819

    Povezava(-e):

    https://www.mdpi.com/1422-0067/24/1/780

    Prost dostop


    Repozitorij Univerze v Ljubljani – RUL
    DOI

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