Understanding Tarsoclasis: Causes, Symptoms, and Treatment Options

Tarsoclasis is a rare genetic disorder that affects the development of the eyes, brain, and other body systems. It is characterized by a range of symptoms including microphthalmia (small eyes), anophthalmia (absence of one or both eyes), coloboma (a hole in one of the structures of the eye), and other vision and cognitive problems.

The disorder is caused by mutations in the TARC gene, which codes for a protein called tarsal-associated Rho GTPase C (TARC). This protein plays a critical role in the development of the eye and brain, and mutations in the TARC gene can lead to the characteristic features of tarsoclasis.

There is no cure for tarsoclasis, and treatment is focused on managing the symptoms and addressing any related complications. This may include surgery to correct vision problems, physical therapy to improve mobility and coordination, and other supportive measures to help individuals with the disorder lead fulfilling lives.