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 (avtor), Kobal, Nina (avtor), Šuštar Habjan, Maja (avtor), Volk, Marija (avtor), Hawlina, Marko (avtor), Fakin, Ana (avtor)

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.

• Jezik: Angleški jezik
• Ključne besede: retinitis pigmentosa, RP, vitamin A, CSNB, NBWD, congenital stationary night blindness, rhodopsin, RHO, sector RP, treatment
• Vrsta gradiva: Članek v reviji
• Tipologija: 1.01 - Izvirni znanstveni članek
• Organizacija: MF - Medicinska fakulteta
• Status publikacije: Objavljeno
• Različica publikacije: Objavljena publikacija
• Leto izida: 2023
• Št. strani: 14 str.
• Številčenje: Vol. 24, iss. 1, art. 780
• PID: 20.500.12556/RUL-155549
• UDK: 617.7
• ISSN pri članku: 1422-0067
• DOI: 10.3390/ijms24010780
• COBISS.SI-ID: 147522819
• Datum objave v RUL: 05.04.2024

Gradivo je del revije

• Naslov: International journal of molecular sciences
• Skrajšan naslov: Int. j. mol. sci.
• Založnik: MDPI
• ISSN: 1422-0067
• COBISS.SI-ID: 2779162

Licence

• Licenca: CC BY 4.0, Creative Commons Priznanje avtorstva 4.0 Mednarodna
• Povezava: http://creativecommons.org/licenses/by/4.0/deed.sl
• Opis: To je standardna licenca Creative Commons, ki daje uporabnikom največ možnosti za nadaljnjo uporabo dela, pri čemer morajo navesti avtorja.

Sekundarni jezik

• Jezik: Slovenski jezik
• Ključne besede: pigmentni retinitis, RP, vitamin A, CSNB, NBWD, prirojena stacionarna nočna slepota, rodopsin, RHO, sektor RP, zdravljenje

Projekti

• Financer: ARRS - Agencija za raziskovalno dejavnost Republike Slovenije
• Številka projekta: J3-1750
• Naslov: Priprava pogojev za gensko zdravljenje dednih očesnih bolezni