Biederman's Syndrome
Biederman's Syndrome, also known as Biederman's Congenital Amaurosis, is a rare genetic disorder that primarily affects vision. Individuals with this condition are born with severe vision impairment or blindness due to abnormalities in the retina. The syndrome is often associated with other physical anomalies, including facial and limb deformities.
The condition is caused by mutations in specific genes that are crucial for the development and function of the retina. Diagnosis typically involves a comprehensive eye examination and genetic testing. While there is no cure, early intervention and supportive therapies can help improve the quality of life for those affected.