IMPDH1 -associated autosomal dominant retinitis pigmentosa: natural history of novel variant Lys3124Gln and a comprehensive literature search.
Dhimas Hari SaktiElisa Eleanor CornishBenjamin M NashRobyn V JamiesonJohn R B GriggPublished in: Ophthalmic genetics (2023)
-associated retinopathy presents most frequently in the first decade of life with early macular involvement.