Novel PDE6B Mutation Presenting with Retinitis Pigmentosa - A Case Series of Three Patients.
CONCLUSIONS: In children complaining of night blindness, a PDE6Β-associated RP needs to be taken into consideration. Apart from helping patients with optical aids, such as polarizing filters or magnification, a specific diagnosis is especially important in view of emerging genetic treatment options. In particular, in RP patients with a PDE6Β mutation, a phase I/II study is currently ongoing (https://clinicaltrials.gov/ct2/show/NCT03328130).
PMID: 30646425 [PubMed - as supplied by publisher]
Source: Klinische Monatsblatter fur Augenheilkunde - Category: Opthalmology Tags: Klin Monbl Augenheilkd Source Type: research
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