RBP4 -related eye disease in a Danish family with retinitis pigmentosa and congenital ocular malformations.

Kessel LineMette BertelsenKaren Grønskov

Published in: Ophthalmic genetics (2022)

Homozygous variants were associated with severe retinal dystrophy, rheumatoid disease, and acne whereas malformations were likely associated with reduced intra-uterine vitamin A levels. It seems advisable to monitor and treat vitamin A deficiency in all patients carrying one or more variants in the RBP4 gene especially during pregnancy.

Keyphrases

copy number
end stage renal disease
newly diagnosed
chronic kidney disease
ejection fraction
early onset
optical coherence tomography
prognostic factors
peritoneal dialysis
gene expression
systemic lupus erythematosus
rheumatoid arthritis