Leber Congenital Amaurosis 2 / Retinitis pigmentosa 20 (RPE65)
RPE65-associated retinal dystrophies comprise two different eye disorders, called retinitis pigmentosa and Leber congenital amaurosis. Both diseases are inherited in an autosomal recessive manner and are can be caused by pathogenic variants in the gene RPE65. Although patients of different ethnicities have been reported, this disease is more prevalent in Sephardic Jewish populations from North Africa. Presenting features of RPE65-associated retinitis pigmentosa include night blindness, which usually begins in early childhood, and progresses to tunnel vision and blindness. Leber congenital amaurosis is more severe than retinitis pigmentosa and manifests in infancy. Patients have profound loss of vision at an early age, and some have been reported to have intellectual disability. Life expectancy is not reduced, and no genotype-phenotype correlation has been noted.
For information about carrier frequency and residual risk, please see the residual risk table.