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Fig. 3 | BMC Ophthalmology

Fig. 3

From: Applying next generation sequencing with microdroplet PCR to determine the disease-causing mutations in retinal dystrophies

Fig. 3

OCMD in a family with incomplete penetrance. Each individual family member was identified with an assigned number ID (such as 40, 43, 45, 42, 36, 35, 70, 46, 44, 48, and 47) or a number after D (such as D2-D12). The genotypes of the RP1L1 gene, p.R45W mutation has been determined in every member if their DNA was available and labeled as R/R for homozygous of R45 allele or R/W for heterozygous of the p.R45W mutation. The samples with colored IDs have been analyzed in this NGS study. The corresponding IDs were: D4 = RD10–01; D7 = RD10–02; 35 = RD10–03; 46 = RD10–04; 48 = RD10–05; 49 = RD10–06, in the NGS analysis. For symbols, represents additional condition not related to retinal dystrophy; represents miscarriage

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BMC Ophthalmology

ISSN: 1471-2415

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