RBP4 gene

Overview
Microphthalmia, anophthalmia, coloboma (MAC)
Anterior segment dysgenesis
References

Overview

Gene (OMIM No.)	RBP4 (#180250)
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)
Inheritance	Autosomal dominant Autosomal recessive
Ocular features	Microphthalmia, isolated, with coloboma 10: Microphthalmia, anophthalmia, coloboma (MAC) spectrum 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 features	Retinal 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 diagnosis	Next generation sequencing Targeted gene panels (MAC) Whole genome sequencing
Management	Ocular Management of MAC Management of anterior segment dysgenesis Supportive management Systemic Multidisciplinary approach
Therapies under research	None at present
Further information	OMIM

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References

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
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
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
Peterson PA. Studies on the interaction between prealbumin, retinol-binding protein, and vitamin A. J Biol Chem. 1971;246(1):44‐49
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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