Ectopia lentis is the familial or acquired displacement of the natural crystalline lens from the patellar fossa. The lens can be subluxated or dislocated in the anterior chamber, vitreous cavity, or retinal surface. The patient usually presents with defective vision, diplopia and there can be a loss of accommodation and refractive error. The etiology of ectopia lentis is broadly grouped as congenital, traumatic, metabolic/syndromic, and consecutive/spontaneous.
The simple form of ectopia lentis can be congenital or acquired later spontaneously. Both can be autosomal dominant or recessive. Autosomal recessive inheritance is rare and is reported in families with a history of consanguineous marriage. The reported prevalence of congenital ectopia lentis is 6 per 100,000.
The Ectopia Lentis DBGen panel includes the study of the coding regions of 14 genes associated with this pathlogy.
12 – 14 weeks