Cataracta Pulverulenta in Marfan Syndrome: An Atypical Ocular Presentation: Case Report.

Abstract

Aim: To report a rare ocular presentation of cataracta pulverulenta in a patient with Marfan syndrome in the absence of classical lens subluxation.

Method: A 14-year-old male presenting with severe bilateral diminution of vision underwent ophthalmic examination and systemic workup. Slit-lamp biomicroscopy, echocardiography, and physical assessment were performed. The patient underwent manual small incision cataract surgery (MSICS) with intraocular lens implantation.

Result: Slit-lamp evaluation revealed bilateral cataracta pulverulenta without ectopia lentis. Systemic findings included long arm span (arm span to height ratio of 1.35), high-arched palate, pectus excavatum, nasal voice, and echocardiographic evidence of a 9 mm atrial septal defect with trace mitral and tricuspid regurgitation. The systemic Ghent score exceeded the diagnostic threshold for Marfan syndrome. Postoperative corrected visual acuity improved to 6/6 in the operated eye.

Discussion: Marfan syndrome is traditionally associated with ectopia lentis as its most characteristic ocular manifestation; however, this case demonstrates that cataracta pulverulenta may occur as an uncommon and diagnostically significant presentation even in the absence of lens displacement. The detection of fine, central nuclear lens opacities in a pediatric patient should raise clinical suspicion of an underlying connective tissue disorder, particularly when subtle skeletal and cardiovascular features coexist. Abnormal fibrillin-1 may contribute to atypical lens development, accounting for such non-classical cataract patterns in Marfan syndrome. Recognition of this rare presentation is essential, as it facilitates early systemic evaluation and confirmation using the Ghent criteria, allowing timely multidisciplinary care. Moreover, the excellent visual recovery following manual small incision cataract surgery highlights that early surgical management of syndromic cataracts can yield favorable outcomes and underscores the essential role of ophthalmologists in identifying systemic diseases through ocular signs.

Conclusion: While ectopia lentis is the most common ocular manifestation of Marfan syndrome, cataracta pulverulenta may also be a rare but significant finding. This case underscores the importance of thorough ocular and systemic evaluation in pediatric cataract patients, as ophthalmic anomalies may be the first clue to underlying systemic connective tissue disorders, such as Marfan syndrome.