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. 2023 Mar 8;87(4):e2021-0415. doi: 10.5935/0004-2749.2021-0415

Table 2.

Segregation analysis from #1 and #3

Patient Fundus examination Gene Allele 1 Allele 2
Nucleotide change Protein change Nucleotide change Protein change
1 Daughter Macular atrophy and pigmentary changes RIMS1 c.2093G>A p.Arg698Gln - -
3 Mother Narrow vessels and macula edema CRB1 c.613_619del p.Ile205Asp fs*13 c.408_506del p.Ile167_Gly169del