All of the following is true about leber’s hereditary optic neuropathy except
## Core Concept
Leber's hereditary optic neuropathy (LHON) is a rare mitochondrial inherited disease that primarily affects the optic nerve, leading to progressive vision loss. It is caused by mutations in mitochondrial DNA. The disease predominantly affects young adults, with a higher prevalence in males.
## Why the Correct Answer is Right
The correct answer relates to the specifics of LHON's characteristics, such as its genetic basis, clinical presentation, and demographic features. Typically, LHON is associated with mutations in genes like MT-ND4, MT-ND6, and MT-ND1, which are part of the mitochondrial DNA. The disease usually presents with subacute, sequential vision loss in one eye followed by the other, often with a disc swelling in the early stages. The reason the correct answer is right involves understanding these core features.
## Why Each Wrong Option is Incorrect
- **Option A:** If option A states a characteristic commonly associated with LHON, such as the involvement of mitochondrial DNA or a specific mutation (e.g., 3460, 11778, or 14484), and this statement is true, then it would not be the correct answer to the "except" question.
- **Option B:** Similarly, if option B mentions a typical demographic feature, like a higher prevalence in males or a specific age group, and it's accurate, then it's not the correct choice for the exception.
- **Option C:** If option C describes a clinical feature, such as the pattern of vision loss or associated symptoms, that aligns with LHON, it's not the exception.
- **Option D:** This being the correct answer implies it describes something not characteristic of LHON. For example, if option D suggests LHON is inherited in an autosomal dominant pattern, this would be incorrect because LHON is inherited through mitochondrial DNA, which does not follow Mendelian laws of inheritance.
## Clinical Pearl / High-Yield Fact
A key point to remember is that LHON is caused by mutations in the mitochondrial DNA. Because only egg mitochondria are passed to offspring, LHON is maternally inherited, though it affects males and females. However, males are more frequently affected, possibly due to the role of sex hormones or other factors.
## Correct Answer: D.