A Cohesin Subunit Variant Identified from a Peripheral Sclerocornea Pedigree

Figure 1

(a) The pedigree of a family showing autosomal dominant inherited peripheral sclerocornea. Black and white colors indicate affected and unaffected members, respectively, whereas squares and circles represent male and female, respectively. Roman numbers indicate the generations, and Arabic numbers show the family members who gave consent to clinical exams and genetic analysis. The closed square and circle carrying an asterisk in the third generation were identified to have peripheral sclerocornea solely based on histories. (b) Photographs of the eyes from three affected members (II-1, II-2, and II-3) and one unaffected individual (II-5). In the eyes of affected members, white regions were observed on the periphery of the corneas, indicating the peripheral sclerocornea. These white regions were not observed in the unaffected eye.

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