Certified Ophthalmic Medical Technologist (COMT) Practice Exam

The syndrome characterized by retinitis pigmentosa and hearing loss is called?

1. Usher's syndrome

2. Marfan syndrome

3. Turner syndrome

4. Kearns-Sayre syndrome

The correct answer is: Usher's syndrome

Usher's syndrome is the correct answer because it specifically describes a genetic condition that combines two key features: retinitis pigmentosa, which is a disease characterized by progressive vision loss due to the degeneration of the retina, and hearing loss, which can range from mild to profound. Usher's syndrome is classified into three types, each with varying degrees of severity in terms of vision and hearing loss. This syndrome is well recognized in medical literature for this specific combination of symptoms, making it distinct from the other syndromes listed. Marfan syndrome, although it is a genetic disorder affecting the connective tissue, does not include auditory or retinal degeneration typically associated with Usher's syndrome. Turner syndrome is a chromosomal disorder that affects females and is characterized primarily by a missing or incomplete X chromosome, predominantly resulting in short stature and ovarian dysfunction, without the combination of vision and hearing issues. Kearns-Sayre syndrome is a mitochondrial disorder that may involve retinal changes and other systemic issues but does not traditionally present with the specific combination of retinitis pigmentosa and hearing loss seen in Usher's syndrome. Thus, the defining characteristics of Usher's syndrome make it the correct choice for this question.