< 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 - June 1, 2023 Category: Opthalmology Authors: Dhimas H Sakti Elisa E Cornish Benjamin M Nash Robyn V Jamieson John R Grigg Source Type: research