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Fig. 2 | BMC Ophthalmology

Fig. 2

From: Autosomal dominant optic atrophy caused by six novel pathogenic OPA1 variants and genotype–phenotype correlation analysis

Fig. 2

Pedigrees and sequencing results of the 11 OPA1-related ADOA families. A F1-I:1, F1-II:3 and F1-III:3 carried the heterozygous c.2787_2794del8 variant. B F2-I:1 and F2-II:2 carried the heterozygous c.2708_2711delTTAG variant. C F3-II:2 and F3-III:3 carried the heterozygous c.2496G > A variant. D F4-III:1 carried the de novo heterozygous c.984 + 1_984 + 2delGT variant. E F5-III:1 and F5-IV:1 carried the heterozygous c.1283A > C (p.N428T) variant. F F6-II:2 carried the heterozygous c.2830G > T variant. G F7-III:3 carried the heterozygous c.1065 + 5G > C variant. H F8-I:1 and F8-II:1 carried the heterozygous c.1937C > G variant. I F9-III:3 and F9-IV:2 carried the heterozygous c.1194 + 2 T > C variant. J F10-III:1, F10-III:3 and F10-IV:1 carried the heterozygous c.112C > T variant. K F11-II:2 and F11-III:1 carried the heterozygous c.1316-10 T > G variant

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