retinol-binding protein deficiency

Epidemiology

rare

Pathology

• atrophy of the retinal pigment epithelium
• no corneal dryness
• no changes in organs other than the eye

Genetics

• mutation in plasma retinol binding protein

Clinical manifestations

• intermittent orange discoloration palms, soles, & face
• night vision problems from early childhood
• iris coloboma
• acne
• otherwise well

Laboratory

• increased serum carotene
• decreased serum vitamin A
• decreased serum-specific retinol-binding protein

Management

• vitamin A supplements do not raise serum vitamin A & do not relieve the carotenemia

More general terms

• genetic disease of the eye

Additional terms

• plasma retinol binding protein; PRBP; retinol binding protein 4 (RBP4, PRO2222)

Database

• OMIM: https://mirror.omim.org/entry/180250