Microspherophakia | |
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Schematic diagram of the human eye(normal) | |
Specialty | Ophthalmology |
Microspherophakia is a rare congenital autosomal recessive condition where the lens of the eye is smaller than normal and spherically shaped. This condition may be associated with a number of disorders including Peter's anomaly, Marfan syndrome, and Weill–Marchesani syndrome. [1] The spherical shape is caused by an underdeveloped zonule of Zinn, which doesn't exert enough force on the lens to make it form the usual oval shape. [2] It is a result of a homozygous mutation to the LTBP2 gene. [3]
Microspherophakia at Online Mendelian Inheritance in Man
Microspherophakia | |
---|---|
![]() | |
Schematic diagram of the human eye(normal) | |
Specialty | Ophthalmology |
Microspherophakia is a rare congenital autosomal recessive condition where the lens of the eye is smaller than normal and spherically shaped. This condition may be associated with a number of disorders including Peter's anomaly, Marfan syndrome, and Weill–Marchesani syndrome. [1] The spherical shape is caused by an underdeveloped zonule of Zinn, which doesn't exert enough force on the lens to make it form the usual oval shape. [2] It is a result of a homozygous mutation to the LTBP2 gene. [3]
Microspherophakia at Online Mendelian Inheritance in Man