Loss of function of retinol dehydrogenase 11 causes a recessive syndrome characterized by myopathy, retinal dystrophy, juvenile cataracts, and microcephaly - PubMed
7 hours ago
- #RDH11
- #Myopathy
- #Recessive Syndrome
- Biallelic variants in RDH11 cause a recessive syndromic disorder with myopathy, retinal dystrophy, juvenile cataracts, and microcephaly.
- The study expanded on previous findings with 16 affected individuals from nine families, showing progressive juvenile-onset myopathy with vacuolar degeneration, asymptomatic hyperCKemia, and common neurodevelopmental impairment.
- Most pathogenic variants are truncating, leading to RDH11 loss of function, consistent with missense variants predicted to disrupt catalytic activity.
- The condition is reclassified as syndromic intellectual disability with muscular and ocular involvement, aiming to enhance diagnosis, clinical evaluation, and genetic counseling.