Figure 1. Clinical and molecular data for patient ILCA-65–1 and family. The proband first presented for ophthalmic examination at 3 years of age. A: There were no recordable responses to light in the electroretinogram. Examples shown are from the left eye for a dark-adapted combined response and a light-adapted photopic response. Arrowhead points to the timing of the 10-ms bright light pulse. B: The family tree shows the proband (filled circle with arrow) and a sibling as clinically affected and both parents as unaffected. C: Bidirectional sequencing showed that the RPE65 Tyr368His TAT>CAT mutation was homozygous in the affected proband (S1) and affected sibling (S3), and was heterozygous in the mother (M) and father (F). Reverse strand sequence around RPE65 Tyr368 (caNatct) is shown against an ethnic unrelated and unaffected control normal (NL).