Phenotype: Retinitis punctata albescens


OMIM: 136880
Inheritance: Autosomal recessive
Classification: Diseases of the eye and adnexa

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RLBP1 || 7.36-kb deletion

Gene/Locus:    RLBP1
Dna Change:    7.36-kb deletion
Protein Change:   
Mutation Type:    Deletion
Mutation Effect:   
Location:    exons 7, 8, and 9
Transcript:   

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
MoroccoNANA8 patients / 5 familiesNADessalces E et al., 2013Dessalces E, Bocquet B, Bourien J, Zanlonghi X, Verdet R, Meunier I, Hamel CP, . Early-onset foveal involvement in retinitis punctata albescens with mutations in RLBP1.. JAMA Ophthalmol. 2013; 131(10):1314-23
MoroccoNANA1 patientNAHumbert G et al., 2006Humbert G, Delettre C, Sénéchal A, Bazalgette C, Barakat A, Bazalgette C, Arnaud B, Lenaers G, Hamel CP, . Homozygous deletion related to Alu repeats in RLBP1 causes retinitis punctata albescens.. Invest. Ophthalmol. Vis. Sci.. 2006; 47(11):4719-24

References

Dessalces E, Bocquet B, Bourien J, Zanlonghi X, Verdet R, Meunier I, Hamel CP, Early-onset foveal involvement in retinitis punctata albescens with mutations in RLBP1.JAMA Ophthalmol. 2013; 131(10):1314-23

Humbert G, Delettre C, Sénéchal A, Bazalgette C, Barakat A, Bazalgette C, Arnaud B, Lenaers G, Hamel CP, Homozygous deletion related to Alu repeats in RLBP1 causes retinitis punctata albescens.Invest. Ophthalmol. Vis. Sci.. 2006; 47(11):4719-24