Retinal dystrophies caused by mutations in RPE65: assessment of visual functions

Aims-To characterise the disease in patients with mutations in RPE65. Methods-Individuals from two families were studied clinically. Results-13 and 20 year old compound heterozygote individuals fi om one fami ly with R234X and 1121deLA mutations showed nystagmus, macular dystrophy an d low contrasted spots in the fundus. Some heterozygotes had macular drusen . A 40 year old compound heterozygote individual from another family with L 22P and H68Y mutations had few bone spicule pigment deposits and macular at rophy Conclusion-Compound heterozygote individuals had severe rod-cone dystrophie s featuring few pigment deposits in the fundus, pigment epithelium atrophy, and early involvement of the macula, with variations in severity leading t o the diagnosis of Leber's congenital amaurosis or retinitis pigmentosa. Ma cular drusen in heterozygotes carrying a null allele may reflect the decrea sed capacity in the RPE65 function.