Spherophakia, Isolated

Clinical Characteristics
Ocular Features: 

Small, spherical lenses are characteristic of this entity.  Lenticular myopia is usually present but no increased axial length.  Glaucoma has been reported in several individuals and speculated to be due to pupillary block.  No buphthalmos or angle anomalies were present.  The lens may sublux into the vitreous cavity.

Systemic Features: 

No skeletal, cardiovascular or metabolic disease is present.


Isolated spherophakia is an autosomal recessive disorder resulting from homozygous mutations in LTBP2 (13q24.1-q32.12).  Parental consanguinity was present in reported families. 

Spherophakia is a clinically and genetically heterogeneous disorder and usually found in association with systemic findings.  It is commonly seen in the Weill-Marchesani syndrome 1 (277600), in Weill Marchesani syndrome 2 (608328), in the Weill-Marchesani-Like syndrome (613195), in a condition known as ‘megalocornea, ectopia lentis, and spherophakia’ (?), another one called 'spherophakia and hernia' (157150), sulfite oxidase deficiency (272300), primary congenital glaucoma D (613086) and in a syndrome known as ‘spherophakia and metaphyseal dysplasia’ (157151).

Treatment Options: 

The lenses may require extraction for secondary glaucoma and/or visual rehabilitation.

Article Title: 


Kumar A, Duvvari MR, Prabhakaran VC, Shetty JS, Murthy GJ, Blanton SH. A homozygous mutation in LTBP2 causes isolated microspherophakia. Hum Genet. 2010 Oct;128(4):365-71.

PubMedID: 20617341

Ben Yahia S, Ouechtati F, Jelliti B, Nouira S, Chakroun S, Abdelhak S, Khairallah M. Clinical and genetic investigation of isolated microspherophakia in a consanguineous Tunisian family. J Hum Genet. 2009 Sep;54(9):550-3.

PubMedID: 19696795