Supratemporal lental subluxation is seen in –
**Core Concept**
Supratemporal lental subluxation refers to the partial dislocation of the lens in the eye, specifically in a superior and temporal direction. This condition is often associated with genetic disorders that affect the structure and integrity of the ocular tissues.
**Why the Correct Answer is Right**
Marfan syndrome is a genetic disorder that affects the body's connective tissue, which provides support and structure to various organs and tissues, including the eyes. In Marfan syndrome, the zonular fibers that suspend the lens in the eye are weakened, leading to supratemporal lental subluxation. This is due to the mutation in the FBN1 gene, which codes for fibrillin-1, a protein essential for the formation of elastic fibers found in connective tissue.
**Why Each Wrong Option is Incorrect**
**Option A:** Weil's Marchesani syndrome is a genetic disorder characterized by short stature, brachydactyly, and characteristic eye abnormalities, including ectopia lentis (dislocation of the lens). However, it typically presents with inferonasal subluxation of the lens, not supratemporal.
**Option C:** Hunter syndrome is a genetic disorder caused by the deficiency of the enzyme iduronate-2-sulfatase, leading to the accumulation of glycosaminoglycans in various tissues. While it affects multiple organ systems, it is not typically associated with supratemporal lental subluxation.
**Option D:** Homocystinuria is a genetic disorder caused by the deficiency of cystathionine beta-synthase, an enzyme essential for the metabolism of the amino acid methionine. This disorder can lead to various ocular abnormalities, including lens subluxation, but it typically presents with superotemporal or inferonasal subluxation, not exclusively supratemporal.
**Clinical Pearl / High-Yield Fact**
It is essential to remember that Marfan syndrome can affect various organs and systems, including the eyes, cardiovascular system, skeletal system, and nervous system. A high index of suspicion and thorough examination are crucial for early diagnosis and management of this condition.
**Correct Answer:**
β Correct Answer: B. Marfans