Leber Congenital Amaurosis 13 (RDH12)
Leber congenital amaurosis 13 is an autosomal recessive, pan-ethnic disease that is caused by pathogenic variants in the gene RDH12. Clinical features include uncontrollable eye movements and loss of vision that begins during infancy. Patients develop a profound loss of vision at an early age. Life expectancy is not decreased, and no genotype-phenotype correlation has been noted. Some patients with pathogenic RDH12 variants may instead develop a milder eye disease called retinitis pigmentosa, which first presents with night blindness in childhood and progresses to tunnel vision and blindness. It is not currently possible to predict the disease severity based on the inherited variants.
For information about carrier frequency and residual risk, please see the residual risk table.