Fig. 2

Ophthalmic presentations of included patients. A, B Fundus presentations of patient A-VI:3 (age 24, carrying OFD1 c.358A>G) indicate waxy optic disc, attenuated retinal arterioles, macular degeneration, bone spicule-like pigments and atrophy of RPE and choroid in the peripheral retina. C Fundus fluorescein angiography (FFA) of patient A-VI:3 notices a combination of speckled hypofluorescent and hyperfluorescent changes in both macular and peripheral retina. D Fundus photos of patient A-VI:2 (age 27, carrying C8ORF37 c.555G>A) show similar presentations to patient A-VI:3, but with more intensive pigmentations. E FFA of patient A-VI:2 also demonstrates intensive speckled changes of both hypofluorescence and hyperfluorescence. F OCT results of patient A-VI:3 indicate attenuated outer nuclear layer (ONL) and RPE with remarkable loss of inner segments (IS) and outer segments (OS). G OCT results of patient A-VI:2 show complete loss of IS and OS. H Patient B-III:3 (age 59, carrying RP1 c.2285_2289delTAAAT) has a waxy optic disc, attenuated retinal arterioles, mild macular degeneration, and intensive bone spicule-like pigment deposits in the mid-peripheral retina of both eyes. I Patient B-III:5 (age 54, carrying RP1 c.2285_2289delTAAAT) shows typical RP fundus similar to patient B-III:3, including intensive pigmentations and macular degeneration. J Fundus of patient B-IV:1 (age 27, carrying TULP1 c.1255C>T) demonstrates attenuated retinal vessels, a waxy optic disc, remarkable macular degeneration, and diffuse pigment deposits in the periphery retina of both eyes. K Patient B-IV:2 (age 24, carrying TULP1 c.1255C>T) shows similar fundus presentation to patient B-IV:1, presenting maculopathy and diffused pigmentations. L Slight waxy pallor of the optic disc and diffuse pigment deposits in the peripheral retina are revealed in the fundus of patient IV:4 (age 31, carrying RP1 c.2285_2289delTAAAT). M Patient II:4 (age 80, carrying RP1 c.2285_2289delTAAAT) shows typical RP fundus with intensive pigment deposits. N OCT results of patient B-III:3 indicate attenuated ONL and RPE with loss of IS and OS. O Thickened ONL with cystic cavities in the macular region were noticed by OCT in patient B-III:5. P OCT examinations of patient B-IV:1 demonstrate attenuated ONL and RPE with complete loss of IS and OS. Q Patient B-IV:2 shows similar OCT results to patient B-IV:1, including attenuated ONL and RPE, and loss of IS/OS. R Slightly attenuated ONL is presented in patient B-IV:4. S Typical RP presentations are revealed in patient B-II:4, demonstrating attenuated ONL and RPE with loss of IS and OS