Lessons of a day hospital: comprehensive assessment of patients with albinism in a European setting

Summary

Albinism is a rare genetic disease, comprising syndromic and non-syndromic forms. We assessed clinical and genetic characteristics in a prospective evaluation of 64 patients (33 children and 31 adults) seen at a specialized day hospital. Causative genetic mutations were found in TYR (23/64, 35.9%), OCA2 (19/64, 29.7%), TYRP1 (1/64, 1.6%), SLC45A2 (12/64, 18.7%), C10orf11 (1/64, 1.6%), HPS1 (3/64, 4.7%), HPS5 (1/64, 1.5%), HPS6 (1/64, 1.6%) and GPR143 (2/64, 3.1%). Causative mutations remained undetermined for 1 patient (1.6%). Heterogeneity for hair and skin phenotype was noted across and within the different genotypes. Skin and hair hypopigmentation did not correlate with visual impairment. The diagnosis of unrecognized syndromic forms and of cases of ocular albinism in this prospective and comprehensive series of patients with albinism in a European setting is remarkable. Photoprotection was overall good but not optimal.

Significance

Albinism is a heterogeneous genetic disease with highly variable skin phenotypes. Genetic analyses must be conducted in case of typical ophthalmological alterations, even if a complete hair and skin depigmentation is absent. Syndromic forms must also be carefully looked for, as we found as many as 7.8% of Hermansky-Pudlak syndromes in this European cohort who should benefit of an early diagnosis for an appropriate follow-up.

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