Retinitis punctata albescens
OMIM:136880Mode of inheritance:Autosomal recessive
Disease classification:Diseases of the eye and adnexa
Mutations
| Gene Symbol | RLBP1 |
|---|---|
| DNA Change | 7.36kb deletion |
| A.A. Change | Frameshift |
| Exon/Intron | exons 7, 8, and 9 |
| Mutation Type | deletion |
| Reference | Humbert G, Delettre C, S?n?chal 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 Nov;47(11):4719-24. |
| Gene Symbol | RLBP1 |
|---|---|
| Reference transcript | NM_000326.4 |
| DNA Change | |
| A.A. Change | p.Tyr111X |
| Exon/Intron | |
| Mutation Type | substitution |
| Reference | 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 Oct;131(10):1314-23. |
| Gene Symbol | RLBP1 |
|---|---|
| Reference transcript | NM_000326.4 |
| DNA Change | |
| A.A. Change | p.Arg9Cys |
| Exon/Intron | |
| Mutation Type | substitution |
| Reference | 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 Oct;131(10):1314-23. |
Variant not named according to HGVS recommendations