This website provides information on patients with variants in the BLOC1S5 gene, including clinical data, molecular data, management and research options.

The disease caused by variants in the BLOC1S5 gene is Hermansky-Pudlak Syndrome type 11 (HPS11), characterized by:
- variable hypopigmentation of the skin, hair and eye
- increased risk of skin cancer
- classical ocular features encountered in all forms of albinism, including

    •    nystagmus
    •    foveal hypoplasia
    •    iris transillumination
    •    retinal hypopigmentation
    •    reduced visual acuity
    •    photophobia
    •    strabismus
    •    ametropia

- bleeding diathesis characterized by easy bruising, prolonged bleeding time, epistaxis,
menorrhagia, excessive blood loss after dental extraction, surgery, deliveries
- abdominal pain in one patient
- dyspnea in one patient
- recurrent infections (pneumonia, herpes, conjunctivitis) in one patient

This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the BLOC1S5 gene.

Benoit Arveiller, PhD, PharmD, Bordeaux University Hospital, University of Bordeaux, Bordeaux, France, benoit.arveiler@chu-bordeaux.fr