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Varied ocular manifestations of Marfan’s syndrome in a family

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Case Series

Author Details : Jyoti Deswal*, Urmil Chawla, Vikas Chaudhary, Rajender Singh Chauhan

Volume : 9, Issue : 3, Year : 2023

Article Page : 446-448

https://doi.org/10.18231/j.ijceo.2023.085

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Abstract

Marfan’s syndrome may present with varied ocular manifestations, major being ectopia lentis. The purpose of this presentation is to present the case of four members of a family presenting with Marfan’s syndrome showing myriad of ocular manifestations. The father, 45 year old male presented with bilateral ectopia lentis (inferiorly subluxated lenses) with raised IOP (33mmHg) in both the eyes. His eldest daughter, 18 year old, also shared similar findings. His second daughter (14 year old) had inferiorly subluxated lens in one eye and anteriorly dislocated lens with corneal opacity in other. Third daughter (13 year old) had intercalary and equatorial staphyloma with anteriorly dislocated cataractous lens with flat AC and raised IOP in right eye and inferiorly subluxated lens in left eye. There was history of death of a male child in the family due to some systemic disease at the age of eight. Systemic examination of the patients revealed no neurological deficits. Cardiovascular system examination was unremarkable. Hands and fingers were long and slender with hyperflexible joints. The ophthalmological management of Marfan’s patients is challenging and periodic follow up is needed. Surgical procedure may be required. Each case needs to be evaluated individually to analyse the risks and benefits of the procedures.
 

Keywords: Marfan's syndrome, Ectopia lentis, Staphyloma 1.

How to cite : Deswal J, Chawla U, Chaudhary V, Chauhan R S, Varied ocular manifestations of Marfan’s syndrome in a family. Indian J Clin Exp Ophthalmol 2023;9(3):446-448

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