Table 1

The main clinical manifestations of Leber congenital amaurosis in the 13 affected subjects

IDAge/sexVisual acuityKeratoconusRetinal vesselsOptic discsRemarks
RightLeft
345 y/MNo LPNo LPYesAttenuatedPaleCorneal hydrops
922 y/MHMHMYesAttenuatedPale
1314 y/MNo LPNo LPYesAttenuatedNormalCorneal hydrops
1415 y/FHMHMYesAttenuatedNormal
1519 y/M6/605/60YesAttenuatedNormal
1620 y/FLPLPMicrophthalmiaNot seenIris atrophy
1723 y/FHMHMYesAttenuatedPaleMacular lesions
2115 y/MHMHMNoAttenuatedNormal
2213 y/MHMHMYesAttenuatedNormal
2310 y/FCFCFNoAttenuatedNormal
2811 y/FNo LPLPNoNot seenNot seenCataracts
2913 y/MLPLPYesNot seenNot seenCataracts
3016 y/FLPLPNoAttenuatedNormal
  • M: male; F: female; LP: light perception; HM: hand movement; CF: counting fingers.