Fig. 1

Fundus and SD-OCT of study patients. Fundus presentation ranges from greyish desaturated background to pigmentary retinopathy. d, g, i and j Patients AS03, AS06, AS08 II:2 and AS08 II:3 affected by LCA5, CEP290 and IFT80 were noted with marbled fundus. i and j AS08 II:2 and AS08 II:3 also had macular coloboma indicated by an arrow. f Yellow vitelliform, egg yolk like well-circumscribed lesion centered at the fovea less than 1/3 of disc with central hyperpigmented spot was observed in patient AS05 with PRPH2 mutation indicated by an arrow. k white arrow indicates the Bull’s eye macula in patient AS09 carrying the RP1 mutation. The accompanying SD-OCT revealed normal retinal architecture in patients with RPE65, LCA5 (AS02) and PRPH2, whereas other patients had a lack of lamination or distorted retina of variable thickness resembling an immature retina. b – d and h Patients AS01, AS02, AS03 and AS07 affected by RPE65, LCA5 and ALMS1 mutations showed preserved outer retinal layer outlined by white lines. f White upper arrow specifies the vitelliform lesions at the macula in patient AS05 affected by PRPH2 mutation. i and j AS08 II:2 and the twin AS08 II:3 presented with crater-like depression indicated by a white down arrow. Further information on these patients are described in Table 1