What is Gillespie syndrome

Gillespie syndrome, also known as aniridia-ptosis-intellectual disability-familial obesity syndrome (APFO), is a rare genetic disorder that affects multiple systems in the body. It is characterized by a combination of several distinct features including aniridia (absence or partial absence of the iris), ptosis (drooping of the upper eyelid), intellectual disability, and familial obesity.

Aniridia is the most prominent feature of Gillespie syndrome, causing vision problems such as reduced visual acuity and sensitivity to light. Ptosis refers to the drooping of the upper eyelid, which can further impair vision. Intellectual disability is another common characteristic, varying in severity from mild to profound. Additionally, individuals with Gillespie syndrome often experience familial obesity, which can lead to various health complications.

Gillespie syndrome is caused by mutations in the ITPR1 gene, which plays a role in the regulation of calcium levels in cells. The exact mechanism by which these mutations lead to the specific features of Gillespie syndrome is not fully understood.

Management of Gillespie syndrome involves a multidisciplinary approach, addressing the various symptoms and associated conditions. This may include regular eye examinations, corrective lenses, surgical interventions for ptosis, educational support for intellectual disability, and dietary interventions for obesity.

While there is currently no cure for Gillespie syndrome, early diagnosis and appropriate interventions can significantly improve the quality of life for individuals affected by this condition.