Characterisation and prevalence of inherited retinal diseases in the Finnish population reveals enrichment of population-specific phenotypes and causative variants.

چکیده

This study aims to assess clinical and genetic characteristics as well as the prevalence of inherited retinal dystrophies (IRD) and their subphenotypes in the Finnish founder population. A retrospective analysis of clinical and genetic data from Northern Finnish patients diagnosed with IRD between…

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موضوعات مرتبط

• رتینوپاتی نارسی
• چشم پزشکی کودکان
• شبکیه