To identify the gene defect and to study the clinical characteristics and natural course of disease in a family originally diagnosed with oligocone trichromacy (OT), a rare congenital cone dysfunction syndrome. In Aug 22, 2017, Susanne Roosing Chakraborty and others published an article in << Genes >> which title is“A Rare Form of Retinal Dystrophy Caused by Hypomorphic Nonsense Mutations in CEP290”. Extensive clinical and ophthalmologic assessment was performed on two siblings with OT and long-term follow up data were analyzed. In the first decade of life, the siblings were diagnosed with OT based on low visual acuity, photophobia, nystagmus, and absent cone response on electroretinography , but with normal color discrimination. Over time, the phenotype of OT evolved to a progressive degenerative disease without any CEP290-associated non-ocular features. Compound heterozygous hypomorphic mutations in CEP290 may lead to a rare form of cone-dominated retinal dystrophy, a novel phenotype belonging to the CEP290-associated spectrum of ciliopathies. These findings provide insight into the effect of CEP290 mutations on the clinical phenotype.
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