Refsum’s syndrome is associated with –
**Core Concept**
Refsum's syndrome is a rare genetic disorder characterized by the accumulation of a specific type of fatty acid called phytanic acid in the body. This accumulation leads to various systemic manifestations, including ophthalmological abnormalities.
**Why the Correct Answer is Right**
Retinitis pigmentosa is a group of genetic disorders that affect the retina, leading to progressive vision loss. In Refsum's syndrome, the accumulation of phytanic acid is known to cause retinitis pigmentosa due to the impaired breakdown of this fatty acid, which is essential for the normal functioning of the retina. The impaired metabolism of phytanic acid leads to the dysfunction of the retina's photoreceptor cells, resulting in the characteristic symptoms of retinitis pigmentosa.
**Why Each Wrong Option is Incorrect**
**Option B:** Xerophthalmia is a condition characterized by the drying of the conjunctiva and cornea, typically associated with vitamin A deficiency. It is not directly related to Refsum's syndrome.
**Option C:** Chalcosis refers to the deposition of copper in the tissues, often as a result of wearing copper-containing intraocular foreign bodies. It is not associated with Refsum's syndrome.
**Option D:** Diabetes retinopathy is a microvascular complication of diabetes mellitus, characterized by damage to the blood vessels in the retina. It is not related to Refsum's syndrome.
**Clinical Pearl / High-Yield Fact**
Refsum's syndrome is an autosomal recessive disorder, meaning that a person must inherit two copies of the mutated gene (one from each parent) to express the disease. Awareness of this genetic inheritance pattern is essential for accurate diagnosis and counseling.
**Correct Answer:**
β Correct Answer: A. Retinitis pigmentosa