Ocular manifestations of the genetic renal tubulopathies

CONCLUSIONS: Ocular abnormalities are uncommon in the genetic tubulopathies but may be helpful in recognizing the underlying genetic disease. The retinal expression and mouse phenotype data suggest that further ocular associations may become apparent with additional reports. Early identification may be necessary to monitor and treat visual complications.PMID:37702059 | DOI:10.1080/13816810.2023.2253901

Source: Ophthalmic Genetics - September 13, 2023 Category: Opthalmology Authors: GeFei Yang Heather Mack Philip Harraka Deb Colville Judy Savige Source Type: research