Ciliopathy: Alström Syndrome

Area of Science:

• Genetics and rare diseases
• Ophthalmology
• Endocrinology

Background:

• Alström syndrome is an autosomal recessive genetic disorder.
• It presents with multisystemic manifestations including cone-rod dystrophy, hearing loss, type 2 diabetes, dilated cardiomyopathy, and progressive hepatic and renal failure.

Purpose of the Study:

• To summarize the key clinical features and diagnostic considerations of Alström syndrome.
• To highlight the early-onset multisystemic involvement and ophthalmological findings.

Main Methods:

• Review of clinical presentation and characteristic findings in Alström syndrome patients.
• Description of ophthalmological examination results, including fundus appearance.
• Summary of endocrine, cardiac, and renal complications.

Main Results:

• Patients exhibit childhood-onset photophobia and nystagmus, mimicking Leber congenital amaurosis (LCA).
• Ophthalmological findings include pigmentary retinopathy, peau d'orange appearance, and macular abnormalities.
• Associated features encompass short stature, hypogonadism, polycystic ovary syndrome (PCOS), obesity, hypertriglyceridemia, hypertension, and potential developmental delay.

Conclusions:

• Alström syndrome is a complex genetic disorder with significant multisystem impact, particularly affecting vision and metabolic functions.
• Early recognition of characteristic ophthalmological and systemic signs is vital for timely diagnosis and management.