A new novel nonsense mutation in AIPL1 in a LCA4 family.

Conclusion: Although KCN has been associated with LCA4, this type of LCA is typically moderate in severity and variable between patients. The present cases also have some systemic abnormalities.
PMID: 31576779 [PubMed - in process]

Source: Ophthalmic Genetics - October 4, 2019 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research