Genotype-phenotype variability of retinal manifestation in primary hyperoxaluria type 1.

CONCLUSIONS: PH1 is potentially accompanied with a considerable decline in visual acuity due to macular scaring and fibrosis, whereas a profound variability of ocular manifestations can be observed in PH1 patients with identical genotypes. PMID: 29244539 [PubMed - as supplied by publisher]

https://www.ncbi.nlm.nih.gov/pubmed/29244539?dopt=Abstract

Source: Ophthalmic Genetics - December 16, 2017 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research