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Fig. 3 | BMC Ophthalmology

Fig. 3

From: Schnyder corneal dystrophy and associated phenotypes caused by novel and recurrent mutations in the UBIAD1 gene

Fig. 3

Pedigrees of the six families with Schnyder corneal dystrophy. Sequence electropherograms of the identified heterozygous mutations in UBIAD1 are also shown. The mutation arose de novo in family 2. Probands are indicated by an arrow and examined individuals by an asterisk. Mutation status in tested subjects is shown +/− for those who are heterozygous for a mutation in UBIAD1 and −/− for those who do not carry the pathogenic variant. Individuals known to be affected by Schnyder corneal dystrophy are shown in black, whereas a question mark indicates that the disease status of the individual was unknown

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