[The Phenotypic Spectrum of Ophthalmic Changes in CEP290 Mutations].

CONCLUSION: As reported earlier, CEP290 variations are one of the most frequent causes of IRDs with infancy onset. In our patient cohort of 30 patients, only 33% had no LP, 67% at least LP, and among these 26% logMAR 2 to 0.3. Together with preserved ganglion cell and nerve fibre cell layers, success with gene therapeutic approaches appears possible. PMID: 30897646 [PubMed - in process]

https://www.ncbi.nlm.nih.gov/pubmed/30897646?dopt=Abstract

Source: Klinische Monatsblatter fur Augenheilkunde - March 23, 2019 Category: Opthalmology Tags: Klin Monbl Augenheilkd Source Type: research