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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Abstract 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.
AbstractList 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.
Author Mehboob, Mohammad A
Khan, Ali A
Zahid, Muhammad A
Khan, Taimoor A
Khan, Asfandyar
AuthorAffiliation 2 Ophthalmology, Armed Forces Institute of Ophthalmology, Rawalpindi, PAK
4 Ophthalmology, Monash Health, Clayton, AUS
3 Ophthalmology, Ayub Medical College, Abbottabad, PAK
1 Ophthalmology, National University of Medical Sciences (NUMS) Rawalpindi, Rawalpindi, PAK
AuthorAffiliation_xml – name: 4 Ophthalmology, Monash Health, Clayton, AUS
– name: 1 Ophthalmology, National University of Medical Sciences (NUMS) Rawalpindi, Rawalpindi, PAK
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10.3390/ijerph19020772
10.1097/IJG.0b013e3182707437
10.1186/1471-2415-15-3
10.4274/tjo.47135
10.1097/j.jcrs.0000000000000334
10.1007/s10038-006-0078-1
10.1016/S0886-3350(02)01617-6
10.1038/eye.2014.250
10.1016/S0886-3350(01)01226-3
ContentType Journal Article
Copyright Copyright © 2023, Khan et al.
Copyright © 2023, Khan et al. This work is published under https://creativecommons.org/licenses/by/3.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.
Copyright © 2023, Khan et al. 2023 Khan et al.
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Issue 5
Keywords marfan disease
marfanoid habitus
marfan syndrome
microspherophakia
ectopia lentis
alport’s syndrome
Language English
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Guo H (ref5) 2015; 15
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SubjectTerms Genetics
Glaucoma
Habitus
Marfan syndrome
Myopia
Ophthalmology
Patients
Pediatrics
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Title Bilateral Anteriorly Displaced Microspherophakia in a Female Child With Marfanoid Habitus
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