Displaced Lenses and Beyond: Marfan syndrome in an 8 year old girl, the truth uncovered: A case report

Marfan syndrome is an inherited connective tissue disorder characterized by mutations in the FBN1 gene leading to systemic manifestations involving the cardiovascular, skeletal, and ocular systems. This case highlights an 8-year-old female with a family history of consanguinity who presented with progressive, painless bilateral vision diminution since childhood. Clinical examination revealed marfanoid features and ocular assessment showed bilateral infero-temporal lens subluxation. Systemic evaluation indicated mitral valve prolapse with mild regurgitation and early diastolic murmur heard at apex. The patient was further worked up for systemic evaluation by pediatric and cardiology departments.

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Publication Details

Journal
International Journal of Case Reports in Surgery
Published
2025-01-01
DOI
https://doi.org/10.22271/27081494.2025.v7.i1e.175
Primary Topic
Connective tissue disorders research
Type
article
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article

Displaced Lenses and Beyond: Marfan syndrome in an 8 year old girl, the truth uncovered: A case report

Athira AV, Smitha KS, Arvind L Tenagi, Farheen Maniyar et al.
International Journal of Case Reports in Surgery
Connective tissue disorders research
article

Displaced Lenses and Beyond: Marfan syndrome in an 8 year old girl, the truth uncovered: A case report

Athira AV, Smitha KS, Arvind L Tenagi, Farheen Maniyar, Rishi Rahul Bhagchandani
article en

Abstract

Marfan syndrome is an inherited connective tissue disorder characterized by mutations in the FBN1 gene leading to systemic manifestations involving the cardiovascular, skeletal, and ocular systems. This case highlights an 8-year-old female with a family history of consanguinity who presented with progressive, painless bilateral vision diminution since childhood. Clinical examination revealed marfanoid features and ocular assessment showed bilateral infero-temporal lens subluxation. Systemic evaluation indicated mitral valve prolapse with mild regurgitation and early diastolic murmur heard at apex. The patient was further worked up for systemic evaluation by pediatric and cardiology departments.

International Journal of Case Reports in SurgeryVol. 7(1)
Gender equality
Openalex Percentile: Top 88%
Connective tissue disorders research
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