Lessons of a day hospital: Comprehensive assessment of patients with albinism in a European setting.
Aurélie MartiEulalie LasseauxKhaled EzzedineChristine Léauté-LabrèzeFranck BoraleviClément PayaValentine CosteVincent DeroissartBenoit ArveilerAlain TaiebFanny Morice-PicardPublished in: Pigment cell & melanoma research (2017)
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 one 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.
Keyphrases
- intellectual disability
- genome wide
- end stage renal disease
- healthcare
- ejection fraction
- newly diagnosed
- copy number
- chronic kidney disease
- soft tissue
- peritoneal dialysis
- young adults
- prognostic factors
- wound healing
- palliative care
- acute care
- case report
- autism spectrum disorder
- patient reported
- electronic health record