Pseudoxanthoma elasticum and retinitis pigmentosa in a patient with a novel mutation in the < em > ABCC6 < /em > gene
CONCLUSION: We present a rare case with ocular findings of PXE and RP in a patient with a novel ABCC6 mutation. The patient presented both with peripheral pigmentary changes and angioid streaks. Further investigation into this novel mutation would be beneficial to determine if the mutation is involved in the RP phenotype.PMID:37259549 | DOI:10.1080/13816810.2023.2219737 (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - June 1, 2023 Category: Opthalmology Authors: Amit V Mishra Rosanna Martens Ian M MacDonald Source Type: research
< em > IMPDH1 < /em > -associated autosomal dominant retinitis pigmentosa: natural history of novel variant Lys3124Gln and a comprehensive literature search
CONCLUSIONS: We report a novel IMPDH1 variant. IMPDH1-associated retinopathy presents most frequently in the first decade of life with early macular involvement.PMID:37259572 | DOI:10.1080/13816810.2023.2215310 (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - June 1, 2023 Category: Opthalmology Authors: Dhimas H Sakti Elisa E Cornish Benjamin M Nash Robyn V Jamieson John R Grigg Source Type: research
Pseudoxanthoma elasticum and retinitis pigmentosa in a patient with a novel mutation in the < em > ABCC6 < /em > gene
CONCLUSION: We present a rare case with ocular findings of PXE and RP in a patient with a novel ABCC6 mutation. The patient presented both with peripheral pigmentary changes and angioid streaks. Further investigation into this novel mutation would be beneficial to determine if the mutation is involved in the RP phenotype.PMID:37259549 | DOI:10.1080/13816810.2023.2219737 (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - June 1, 2023 Category: Opthalmology Authors: Amit V Mishra Rosanna Martens Ian M MacDonald Source Type: research
< em > IMPDH1 < /em > -associated autosomal dominant retinitis pigmentosa: natural history of novel variant Lys3124Gln and a comprehensive literature search
CONCLUSIONS: We report a novel IMPDH1 variant. IMPDH1-associated retinopathy presents most frequently in the first decade of life with early macular involvement.PMID:37259572 | DOI:10.1080/13816810.2023.2215310 (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - June 1, 2023 Category: Opthalmology Authors: Dhimas H Sakti Elisa E Cornish Benjamin M Nash Robyn V Jamieson John R Grigg Source Type: research
Pseudoxanthoma elasticum and retinitis pigmentosa in a patient with a novel mutation in the < em > ABCC6 < /em > gene
CONCLUSION: We present a rare case with ocular findings of PXE and RP in a patient with a novel ABCC6 mutation. The patient presented both with peripheral pigmentary changes and angioid streaks. Further investigation into this novel mutation would be beneficial to determine if the mutation is involved in the RP phenotype.PMID:37259549 | DOI:10.1080/13816810.2023.2219737 (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - June 1, 2023 Category: Opthalmology Authors: Amit V Mishra Rosanna Martens Ian M MacDonald Source Type: research
