cataract, juvenile, with microcornea and glucosuria
cataract, juvenile, with microcornea and glucosuria
A rare inherited condition (OMIM:612018) characterised by juvenile cataract with microcornea and renal glucosuria.Molecular pathology
Caused by defects of SLC16A12, which encodes a putative transporter highly expressed in the eye and kidney that catalyses the transmembrane transport of monocarboxylates .