Ectopia lentis, Isolated AR

Clinical Characteristics
Ocular Features: 

Most dislocated lenses of non-traumatic origin are associated with syndromes, particularly those with defective connective tissue.  However, a few families with dislocated lenses have been reported in which no evidence of defective collagen is present.  The lens is most commonly displaced temporally, often creating myopic astigmatism.  The mean age of discovery of the dislocated lenses is about 2 years of age.  The eye is otherwise normally formed, intraocular pressure is normal, and the axial length is in the normal range.  The cornea, pupil, and iris are normal unlike that found in many patients with ectopia lentis et pupillae (225200).

Systemic Features: 

None by definition.

Genetics

Homozygous nonsense mutations in ADAMTSL4 (1q21.3) are responsible for this autosomal recessive condition.  The same gene is mutated in ectopia lentis et pupillae (225200).  A patient has been reported with craniosynostosis and ectopia lentis in which there was a homozygous 20 bp deletion in this gene.

An autosomal dominant condition of isolated dislocated lenses (129600) secondary to a mutation in FBN1 has also been reported.

Treatment
Treatment Options: 

Lens removal may be indicated when vision cannot otherwise be corrected.

References
Article Title: 

References

Chandra A, Aragon-Martin JA, Sharif S, Parulekar M, Child A, Arno G. Craniosynostosis with Ectopia Lentis and a Homozygous 20-base Deletion in ADAMTSL4. Ophthalmic Genet. 2012 Aug 7. [Epub ahead of print].

PubMedID: 22871183

Ahram D, Sato TS, Kohilan A, Tayeh M, Chen S, Leal S, Al-Salem M, El-Shanti H. A homozygous mutation in ADAMTSL4 causes autosomal-recessive isolated ectopia lentis. Am J Hum Genet. 2009 Feb;84(2):274-8.

PubMedID: 19200529

al-Salem M. Autosomal recessive ectopia lentis in two Arab family pedigrees. Ophthalmic Paediatr Genet. 1990 Jun;11(2):123-7.

PubMedID: 2377351