Genotype-phenotype associations in Danish patients with ocular and oculocutaneous albinism.
Kessel LineBirgit KjerUlrikke LeiMorten DunoKaren GrønskovPublished in: Ophthalmic genetics (2021)
Ocular developmental features were the most common findings whereas phenotypic features related to pigmentation were less common findings but there were no genotype-phenotype correlations. All patients with a genetically confirmed diagnosis of albinism fulfilled the diagnostic criteria by Kruijt irrespective of genetic subtype.