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. Author manuscript; available in PMC: 2023 May 1.
Published in final edited form as: Graefes Arch Clin Exp Ophthalmol. 2022 Jan 10;260(5):1543–1550. doi: 10.1007/s00417-021-05508-2

Table 1.

Patient Demographics

Age (yrs)
  Mean (SD) 9.1 (4.0)
  Range 4 - 17
Gender, no. (%)
  Male 9 (64%)
  Female 5 (36%)
Race, no. (%)
  White 11 (79%)
  Black 3 (21%)
Laterality, no. (%)
  Right Eye 13 (48%)
  Left Eye 14 (52%)
RPE65 Variants, no. (%)
  c.11+5G>A homozygous 8 (57%)
  c.11+5G>A and c.962dupA, p.Asn321Lysfs 2 (14%)
  c.11+5G>A and c.1249G>C, p.Glu417Gln 1 (7%)
  c.74C>T, p.Pro25Leu and c.893delA, p.298Lysfs 1 (7%)
  c.118G>A, p.Glu40Lys and c.1102T>C, p.Tyr368His 1 (7%)
  c.271C>T, p.Arg91Trp and c.1334A>G, p.Asp445Gly 1 (7%)