Unusual early-onset vitelliform dystrophy possibly linked to the interphotoreceptor matrix proteoglycan-1 p.leu154pro mutation

Conclusion: The p.Leu154Pro IMPG1 mutation may cause symptomatic outer retinal disturbance in the heterozygous state. Further studies are necessary.
Source: Retinal Cases and Brief Reports - Category: Opthalmology Tags: Case Report Source Type: research