What type of inheritance is associated with Stargardt's disease?

Study for the KMK Mnemonics Test. Study with flashcards and multiple choice questions, each question has hints and explanations. Get ready for your exam!

Stargardt's disease is a genetic eye disorder that primarily affects retinal function and leads to vision loss. It is associated with a specific type of inheritance known as autosomal recessive inheritance. This means that an individual must inherit two copies of the mutated gene—one from each parent—to develop the disease.

In the case of Stargardt's disease, mutations typically occur in the ABCA4 gene, which plays a crucial role in the function of photoreceptor cells in the retina. When both alleles are affected, the dysfunctional protein leads to the accumulation of toxic substances in the retinal cells, ultimately causing damage and resulting in the characteristic visual impairment associated with the condition.

Autosomal recessive inheritance is marked by the fact that carriers, who have only one copy of the mutated gene, usually do not exhibit any symptoms of the disease themselves. This inheritance pattern helps explain why individuals with Stargardt's disease often have parents who are carriers but do not show symptoms of the condition.

Subscribe

Get the latest from Examzify

You can unsubscribe at any time. Read our privacy policy