| Phenotype: | Retinitis punctata albescens |
|---|---|
| Dna Change: | 7.36-kb deletion |
| Protein Change: | |
| Mutation Type: | Deletion |
| Mutation Effect: | |
| Location: | exons 7, 8, and 9 |
| Transcript: |
| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
|---|---|---|---|---|---|
| Morocco | NA | NA | 8 patients / 5 families | NA | Dessalces 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 |
| Morocco | NA | NA | 1 patient | NA | Humbert 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 |
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