Bilateral Anteriorly Displaced Microspherophakia in a Female Child With Marfanoid Habitus

Microspherophakia is a rare congenital anomaly characterized by an abnormally small and spherical crystalline lens, which can be associated with several systemic syndromes. We present an extremely rare case of bilateral anteriorly displaced microspherophakia in a female child with Marfanoid habitus....

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Published inCurēus (Palo Alto, CA) Vol. 15; no. 5; p. e38371
Main Authors Khan, Taimoor A, Khan, Ali A, Khan, Asfandyar, Zahid, Muhammad A, Mehboob, Mohammad A
Format Journal Article
LanguageEnglish
Published United States Cureus Inc 01.05.2023
Cureus
Subjects
Genetics
Glaucoma
Habitus
Marfan syndrome
Myopia
Ophthalmology
Patients
Pediatrics
Rawalpindi Pakistan
Pakistan
marfan disease
marfanoid habitus
marfan syndrome
microspherophakia
ectopia lentis
alport’s syndrome
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Summary:Microspherophakia is a rare congenital anomaly characterized by an abnormally small and spherical crystalline lens, which can be associated with several systemic syndromes. We present an extremely rare case of bilateral anteriorly displaced microspherophakia in a female child with Marfanoid habitus. The patient displayed phenotypic features resembling Marfan syndrome, including tall stature, muscle hypotonia, dolichostenomelia, and increased arm span than body length. However, unlike Marfan syndrome, Marfanoid habitus is not associated with mutations in the fibrillin-1 gene. The association between microspherophakia and Marfanoid habitus is a unique presentation that has not been reported in the literature. This case report aims to increase awareness of microspherophakia as a possible ocular association of Marfanoid habitus.
ISSN:2168-8184
2168-8184
DOI:10.7759/cureus.38371