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retinol-binding protein deficiency
Epidemiology: rare
Pathology:
1) atrophy of the retinal pigment epithelium
2) no corneal dryness
3) no changes in organs other than the eye
Genetics:
- mutation in plasma retinol binding protein
Clinical manifestations:
1) intermittent orange discoloration palms, soles, & face
2) night vision problems from early childhood
3) iris coloboma
4) acne
5) otherwise well
Laboratory:
1) increased serum carotene
2) decreased serum vitamin A
3) decreased serum-specific retinol-binding protein
Management:
- vitamin A supplements do not raise serum vitamin A & do not relieve the carotenemia
Related
plasma retinol binding protein; PRBP; retinol binding protein 4 (RBP4, PRO2222)
General
genetic disease of the eye
Database Correlations
OMIM 180250
References
OMIM :accession 180250