The aim of the study is to characterize the clinical manifestations of ALMS within the ciliopathies to prevent complications and determine preventive and therapeutic targets.

The investigators believe that the clinical consequences of mutations in the gene result ALMS1 unprecedented protests and the ALMS study should help to be informed, not only about the understanding and decision support other ciliopathies, but also about some common diseases, as some physiopathogenic roads could be common; the rare disease being exacerbated a model of the channel concerned. Secondarily, the clinical data generated by this project will also be used as part of basic research (eg comparison with results in animal models, use of human cells for in vitro studies or transcriptomic ....) (which will be a secondary upgrading to this work).

Inclusion Criteria for Patients with Alström syndrome:

• Age> 2 years
• Affiliated with a social security scheme
• Informed consent signed
• Retinal dystrophy and proved at least three diagnostic criteria Alström syndrome (Criteria Marshall et al, 2005):
• Early obesity
• Deafness
• Dilated cardiomyopathy
• Type 2 diabetes
• Hypogonadism
• Absence of polydactyly
• Lack of mental retardation
• A family history of the ALMS
• Mutation in the ALMS gene identified

Inclusion Criteria for Related of Alström patients :

• Father / Mother of a patient diagnosed with Alström
• Age greater than 18 years
• Affiliated with a social security scheme
• Informed consent signed

Exclusion Criteria for Patients with Alström syndrome:

• Current pregnancy (a pregnancy test is routinely performed at baseline)
• Pregnant or breastfeeding women
• Intercurrent diseases do not allow the practice exams in protocol
• Subject to exclusion period (determined by a previous study or a study in progress)

Exclusion Criteria for Related of Alström patients :

• Age less than 18 years
• Subject to exclusion period (determined by a previous study or a study in progress)

Patients will be recruited through the investigators' consultation Reference Center for Rare Diseases in Ophthalmological Genetics (CARGO) or sent by their colleagues from other cities including through very geneticists genetic Group or 3rd Thursdays ophthalmologists colleagues. Prior consultation CARGO will disclose the medical records of the intention of the patient to participate in this research (source document).