False about stagardt’s disease
**Core Concept**
Stargardt's disease (Stargardt macular dystrophy) is a genetic disorder characterized by progressive macular degeneration due to mutations in the *ABCA4* gene, leading to accumulation of lipofuscin in retinal photoreceptors. It primarily presents with central vision loss and a characteristic "beaten bronze" fundus appearance.
**Why the Correct Answer is Right**
Stargardt’s disease is **autosomal recessive**, not autosomal dominant. The mutation in the *ABCA4* gene impairs the transport of visual cycle components, causing toxic buildup of bisretinoid compounds in the macula. Therefore, option A stating it is autosomal dominant is **false** and thus the correct choice in a "false about" question. The disease often has a family history, especially in consanguineous families, and patients typically show a beaten bronze fundus and abnormal electroretinography (ERG) with normal electrooculography (EOG), though EOG is often normal in early stages.
**Why Each Wrong Option is Incorrect**
Option B: "No family history" is incorrect because Stargardt’s disease often has a **positive family history**, especially in autosomal recessive patterns.
Option C: "Beaten bronze appearance fundus" is correct — this is a hallmark clinical sign of Stargardt’s disease.
Option D: "ERG and EOG both are normal" is incorrect because ERG is typically **reduced** in Stargardt’s disease, though EOG may be normal or mildly abnormal; thus, stating both are normal is false — but since the question asks for a *false* statement, this makes D misleading. However, D is less consistently false than A.
**Clinical Pearl / High-Yield Fact**
Stargardt’s disease is **autosomal recessive**, not dominant — a common exam trap. Always remember: **"ABCA4 mutation → recessive inheritance → beaded fundus → central vision loss."**
✓ Correct Answer: A. Autosomal dominant