Abstract
Background Sclerocornea is a rare congenital disorder characterized with the opacification of the cornea. Here, we report a nonconsanguineous Chinese family with multiple peripheral sclerocornea patients spanning across three generations inherited in an autosomal dominant manner. Methods This is a retrospective case series of a peripheral sclerocornea pedigree. Comprehensive ophthalmic examinations were conducted and assessed on 14 pedigree members. Whole-exome sequencing was used to identify the genetic alterations in the affected pedigree members. Lymphoblastoid cell lines (LCLs) were established using blood samples from the family members. Functional tests were performed with these cell lines. Results Six affected and eight unaffected members of a family with peripheral sclerocornea were examined. All affected individuals showed features of scleralization over the peripheral cornea of both eyes. Mean horizontal and vertical corneal diameter were found significantly decreased in the affected members. Significant differences were also observed on the mean apex pachymetry between affected and unaffected subjects. These ophthalmic parameters did not resemble that of cornea plana. A RAD21C1348T variant was identified by whole-exome sequencing. Although this variant causes RAD21 R450C substitution at the separase cleavage site, cells from peripheral sclerocornea family members had no mitosis and ploidy defects. Conclusion We report a family of peripheral sclerocornea with no association with cornea plana. A RAD21 variant was found cosegregating with peripheral sclerocornea. Our results suggest that RAD21 functions, other than its cell cycle and chromosome segregation regulations, could underline the pathogenesis of peripheral sclerocornea.
Highlights
Sclerocornea is a rare corneal opacification disease
Our results showed that most Lymphoblastoid cell lines (LCLs) have 46 chromosomes, the RAD21 R450C variant is insufficient to change the ploidy of the LCLs (Figure 4(c))
We identified a peripheral sclerocornea pedigree spanning over three generations
Summary
Sclerocornea is a rare corneal opacification disease. The transition between the sclera and cornea is indistinct in sclerocornea cases [1, 2]. Based on the affected area of the cornea and vision damages of the patients, there are two major types of sclerocornea: total and peripheral sclerocornea [1, 2]. Whole-exome sequencing was used to identify the genetic alterations in the affected pedigree members. Six affected and eight unaffected members of a family with peripheral sclerocornea were examined. Significant differences were observed on the mean apex pachymetry between affected and unaffected subjects These ophthalmic parameters did not resemble that of cornea plana. A RAD21C1348T variant was identified by whole-exome sequencing This variant causes RAD21 R450C substitution at the separase cleavage site, cells from peripheral sclerocornea family members had no mitosis and ploidy defects. Our results suggest that RAD21 functions, other than its cell cycle and chromosome segregation regulations, could underline the pathogenesis of peripheral sclerocornea
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