Phenotype of autosomal recessive congenital microphthalmia mapping to chromosome 14q32

Background—Congenital microphthal-mia (OMIM: 309700) may occur in isola-tion or in association with a variety of systemic malformations. Isolated micro-phthalmia may be inherited as an auto-somal dominant, an autosomal recessive, or an X linked trait. Methods—Based on a whole genome link-age analysis, in a six generation consan-guineous family with autosomal recessive inheritance, the first locus for isolated microphthalmia was mapped to chromo-some 14q32. Eight members of this family underwent clinical examination to deter-mine the nature of the microphthalmia phenotype associated with this locus. Results—All aVected individuals in this family suVered from bilateral microph-thalmia in association with anterior seg-ment abnormalities, and the best visual acuity achieved was “perception of light”. Corneal changes included partial or com-plete congenital sclerocornea, and the later development of corneal vascularisa-tion and anterior staphyloma. Intraocular pressure, as measured by Schiotz tonom-etry, was greatly elevated in many cases. Conclusions—This combination of ocular defects suggests an embryological disor-der involving tissues derived from both the neuroectoderm and neural crest. Other families with defects in the micro-phthalmia gene located on 14q32may have a similar ocular phenotype aiding their identification