RBP4 gene


Gene (OMIM No.)
Function of gene/protein
  • Protein: retinol-binding protein 4
  • Mediates the transport of retinol (Vitamin A) from liver stores to peripheral tissues
  • Transfers bound retinol to STRA6 for transport across cell membranes
  • Retinol is required for normal eye development during embryogenesis and retinal phototransduction postnatally (visual cycle)
Clinical phenotype
(OMIM phenotype no.)
  • Autosomal dominant microphthalmia, isolated, with coloboma 10 (#616428)
  • Autosomal recessive retinal dystrophy, iris coloboma, and comedogenic acne syndrome (#615147)
  • Autosomal dominant
  • Autosomal recessive
Ocular featuresMicrophthalmia, isolated, with coloboma 10:Retinal dystrophy, iris coloboma, and comedogenic acne syndrome:
  • Microphthalmia, anophthalmia, coloboma (MAC) spectrum
  • Anterior segment dysgenesis
  • Bone-spicule pigmentation
  • Vessel attenuation
  • Peripheral retinal atrophy
Systemic featuresRetinal dystrophy, iris coloboma, and comedogenic acne syndrome:
  • Patent ductus arteriosus in 1 case
  • Severe comedogenic acne
Key investigations
  • B-scan USS to measure axial length to document microphthalmia
  • Full-field ERG: rod-cone dystrophy pattern
  • OCT and FAF
  • MRI brain and orbit
  • Systemic assessment with a paediatrician and other relevant specialists
Molecular diagnosisNext generation sequencing
  • Targeted gene panels (MAC)
  • Whole genome sequencing
  • Multidisciplinary approach
Therapies under research
  • None at present
Further information

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  1.  Berry DC, O’Byrne SM, Vreeland AC, Blaner WS, Noy N. Cross talk between signaling and vitamin A transport by the retinol-binding protein receptor STRA6. Mol Cell Biol. 2012;32(15):3164‐3175
  2.  Chou CM, Nelson C, Tarlé SA, et al. Biochemical Basis for Dominant Inheritance, Variable Penetrance, and Maternal Effects in RBP4 Congenital Eye Disease. Cell. 2015;161(3):634‐646
  3.  Cukras C, Gaasterland T, Lee P, et al. Exome analysis identified a novel mutation in the RBP4 gene in a consanguineous pedigree with retinal dystrophy and developmental abnormalities. PLoS One. 2012;7(11):e50205
  4.  Peterson PA. Studies on the interaction between prealbumin, retinol-binding protein, and vitamin A. J Biol Chem. 1971;246(1):44‐49
  5.  Seeliger MW, Biesalski HK, Wissinger B, et al. Phenotype in retinol deficiency due to a hereditary defect in retinol binding protein synthesis. Invest Ophthalmol Vis Sci. 1999;40(1):3‐11

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Updated on November 30, 2020
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