Ectopia lentis in a child is seen in which of the following diseases?

Homocystinuria. ***Homocystinuria*** - Ectopia lentis (lens dislocation) is a characteristic feature of **homocystinuria**, often presenting at a young age. - The dislocation in homocystinuria is typically **inferomedial (inferonasally)** due to weakened zonular fibers. - Homocystinuria is an **inborn error of methionine metabolism** with elevated homocysteine levels. *Marfan syndrome* - While **Marfan syndrome** is the most common cause of ectopia lentis, the lens typically dislocates **superiorly and temporally**. - Marfan syndrome is a connective tissue disorder but is not primarily a metabolic disorder like homocystinuria. - Both conditions can present with ectopia lentis, but the direction of dislocation and associated features differ. *Sarcoidosis* - Ocular manifestations of sarcoidosis usually include **uveitis**, **conjunctivitis**, and **retinal vasculitis**, but not typically ectopia lentis. - Sarcoidosis is a multisystem granulomatous disease and is rare in young children presenting with ectopia lentis. *Wilson disease* - **Kayser-Fleischer rings**, which are deposits of copper in the cornea, are pathognomonic for Wilson disease. - Ocular involvement in Wilson disease does not typically involve ectopia lentis. *Alkaptonuria* - This condition is characterized by the accumulation of **homogentisic acid**, leading to **ochronosis** (black pigmentation) in cartilaginous tissues and urine that turns black on standing. - Ocular manifestations can include scleral pigmentation, but ectopia lentis is not a feature of alkaptonuria. [Practice more Psychiatry PYQs on OnCourse]

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FMGE 2018 — Psychiatry

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