Двенадцатимесячное исследование естественного течения наследственной дегенерации сетчатки, связанной с центросомальным белком 290 (CEP290).

Twelve-month Natural History Study of Centrosomal Protein 290 (CEP290)-associated Inherited Retinal Degeneration.

Inherited retinal degenerations (IRDs) are a leading cause of visual impairment, affecting approximately 1 in 2000 people worldwide.¹ Centrosomal protein 290 (CEP290)-associated IRD is a severe, early-onset IRD caused by biallelic mutations in the gene encoding cCEP290. Centrosomal protein 290-associated IRD is characterized by early rod and cone photoreceptor degeneration and severe visual impairment within the first decade of life.², ³, ⁴ Among mutations known to cause CEP290-associated IRD, the single A>G nucleotide change within intron 26 (c.2991+1655A>G mutation) is the most common and can be found in up to 77% of cases in the United States.⁵ This mutation leads to the introduction of a cryptic exon and premature stop codon (p.Cys998X) that disrupts expression of full-length CEP290.⁶ As the CEP290 protein localizes to the transition zone between photoreceptor inner and outer segments,^7,8 insufficient levels result in disorganized outer segments and early photoreceptor death in the midperipheral retina.⁹