Microphthalmia, AR

Clinical Characteristics

Ocular Features:

The most consistent feature associated with mutations in the VSX2 [1] gene is, of course, microphthalmia/anophthalmia. Other anomalies include dysplasia of the retina, cataracts and/or dislocated lenses, and iris anomalies ranging from hypoplasia to colobomas and absence of the pupils. Colobomas may also involve the posterior uveal tract as well as the optic nerve. The majority of patients are blind.

Systemic Features:

No systemic features are associated.

Genetics

This is an autosomal recessive disorder resulting from mutations in the VSX2 [1] (formerly CHX10) gene located at 14q24.3. The gene is expressed in progenitor cells of the developing neuroretina and in inner nuclear cells of the adult retina. Most parents are consanguineous.

Treatment

Treatment Options:

None other than rehabilitation.

References

Article Title:

VSX2 mutations in autosomal recessive microphthalmia [2]

Reis LM, Khan A, Kariminejad A, Ebadi F, Tyler RC, Semina EV. VSX2 mutations in autosomal recessive microphthalmia. Mol Vis. 2011;17:2527-32.

PubMed ID:

2197693

CHX10 mutations cause non-syndromic microphthalmia/ anophthalmia in Arab and Jewish kindreds [3]

Bar-Yosef U, Abuelaish I, Harel T, Hendler N, Ofir R, Birk OS. CHX10 mutations cause non-syndromic microphthalmia/ anophthalmia in Arab and Jewish kindreds. Hum Genet. 2004 Sep;115(4):302-9.

PubMed ID:

15257456

Autosomal recessive colobomatous microphthalmia [4]

Zlotogora J, Legum C, Raz J, Merin S, BenEzra D. Autosomal recessive colobomatous microphthalmia. Am J Med Genet. 1994 Feb 1;49(3):261-2.

PubMed ID:

8209881