The colleagues from the UK (Prof Alison Hardcastle, Prof Alice Davidson, Freddie Braddock et al.) found a new autosomal dominant corneal stromal dystrophy caused by a variant in a new causative gene, SPARCL1. The pedigree included eight affected individuals over three generations. The affected individual had a diffuse haze in the corneal stroma. Other corneal layers and other eye parts were unaffected, making it the possible 8th corneal stromal dystrophy. The original article in the European Journal of Human Genetics: https://lnkd.in/gfSTEWiQ The future will show whether this finding is ultrarare or a frequent cause of stromal dystrophy. Further, because the phenotype had a relatively late onset, it is interesting to see the evolving phenotypic spectrum of this corneal dystrophy. I was honoured to be invited to write a commentary on the article: https://lnkd.in/g4HJ3dQA
Eye Genetics Research Group - Turunen laboratory
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Genetic discoveries in the field of ophthalmology
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Genetic discoveries in the field of ophthalmology. Eye Genetics Research Group in Folkhälsan Research Center, Biomedicum Helsinki collaboration with Helsinki University Hospital and University of Helsinki.
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