Symptoma

Foveal Hypoplasia Type 1

Foveal Hypoplasia - Presenile Cataract

  • Aniridia

    Genotype-phenotype correlation of PAX6 gene mutations in aniridia. Hum Genome Var. 2016;3:15052. [PMC free article] [PubMed] [Google Scholar] 44. Hingorani M, Williamson KA, Moore AT, van Heyningen V. [ncbi.nlm.nih.gov]

  • Nystagmus

    Isolated foveal hypoplasia with secondary nystagmus and low vision is associated with a homozygous SLC38A8 mutation. Eur J Hum Genet. 2014;22:703–6. [PMC free article] [PubMed] [Google Scholar] 51. [ncbi.nlm.nih.gov]