The first homozygote mutation c.499g>t (asp167tyr) in the rpe65 gene encoding retinoid isomerohydrolase causing retinal dystrophy

HIGHLIGHTS

• who: Mirjana Bjelou0161 and colleagues from the University Eye Department, Reference Center of Ministry of Health of Republic of for have published the article: The First Homozygote Mutation c.499G>T (Asp167Tyr) in the RPE65 Gene Encoding Retinoid Isomerohydrolase Causing Retinal Dystrophy, in the Journal: (JOURNAL) of 23/Nov/2022
• what: The authors report a case of a 66-year-old male who demonstrated a unique phenotype manifesting less severe functional vision deterioration in childhood and adolescence and extensive nummular pigment clusters. underlying causes of differences in typical bone spicule and atypical nummular pigment clumping . . .
  

   

  

  If you want to have access to all the content you need to log in!

  Thanks :)

  Username or Email

  Password

  Remember me

  Lost your password?

  If you don't have an account, you can create one here.