Evidence of Genetic Heterogeneity in MRC (Microcornea, Rod-Cone Dytrophy, Cataract, and Poterior taphyloma) yndrome

Purpoe To preent the detailed phenotype of a ubject with MRC (microcornea, retinal dytrophy, cataract, and poterior taphyloma) yndrome and to invetigate the underlying molecular genetic bai. Deign Interventional cae report. Method Clinical examination, electrophyiologic aement, B-can ultraonography, and mutation creening of the gene VMD2. The protocol of the tudy wa approved by the local ethic committee and informed conent wa obtained. Reult A 12-year-old boy wa identified with bilateral microcornea, rod-cone dytrophy, congenital cataract, and poterior taphylomata aociated with high myopia (MRC). Mutation creening failed to identify dieae-cauing equence variant in VMD2, the gene aociated with MRC yndrome. All previou ubject have had pathogenic VMD2 equence alteration. Concluion We preent a further report of the MRC yndrome and provide evidence in upport of genetic heterogeneity in thi phenotype.