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 - June 1, 2023 Category: Opthalmology Authors: Amit V Mishra Rosanna Martens Ian M MacDonald Source Type: research