Genotype-phenotype correlations in Bothnia dystrophy caused by RLBP1 gene sequence variations
Acta Ophthalmologica, 05/07/2012
Burstedt M et al. – The two RLBP1 genotypes presented a phenotypical and electrophysiological expression of progressive retinal disease similar to that previously described in homozygotes for the c.700C>T (p.R234W) RLBP1 mutation. The uniform phenotypical expression of RLBP1 mutations is relevant information for the disease and of importance in planning future treatment strategies.