Back to All TypesOMIM #613837
LCA11
IMPDH1
Inosine monophosphate dehydrogenase; essential for nucleotide biosynthesis
No Targeted Treatment Yet
Chromosomal Locus
7q32.1
Inheritance
Autosomal Dominant
Frequency
~5% of LCA cases
Key Clinical Features
- 1Autosomal dominant inheritance
- 2Nucleotide metabolism disruption in photoreceptors
Sources: