Figure 1. Color photographs of the retinas of six patients with LCA. A, B: Two 6-month-old babies (P2 and P3) with compound heterozygous mutations in GUCY2D (p.[Phe993LeufsTer13]+[Gly1013Glu] and p.[His664Pro]+[Phe883LeufsTer13], respectively) have no definite abnormal finding
(OD) in the retina. C: A 7-month-old baby (P5) with compound heterozygous missense mutations in NMNAT1 (p.[Arg66Trp]+[Arg237Cys]) has marked chorioretinal atrophic changes in the macula with vessel narrowing and mild pigmentary
changes (OD). D: A 1-year-old baby (P6) with only one pathogenic mutation in NMNAT1 (p.[Arg237Cys]+[?]) shows nystagmus, hyperopia, and a characteristic macular coloboma-like lesion (OS). E: An 8-month-old baby (P8) presented with poor eye contact, extinguished electroretinogram, +6.00 diopters hyperopia, slight
optic disc pallor, and mild vessel narrowing (OD). We identified one frameshift mutation (p.Arg1189GlyfsTer7) in RPGRIP1. F: A 29-year-old male (P9) presented with nystagmus developed at the age of 6 years, 20/200 acuity, optic atrophy, and mild
vessel attenuation (OD). Compound heterozygous mutations were identified in RPGRIP1 (p.[Tyr693Ter]+[c.2212_2215+21del]).