Nanophthalmos 3

For a general phenotypic description and a discussion of genetic heterogeneity of nanophthalmos, see NNO1 (600165).

Clinical Features

Li et al. (2008) described a large 6-generation Chinese pedigree segregating 'congenital simple microphthalmia' in an autosomal dominant pattern. Affected members of the family had small eye globes, enophthalmos, narrow palpebral fissures, mild ptosis, shallow anterior chambers, small corneas, and normal pupils; they also demonstrated high hyperopia, ranging from +6.00 to +11.25 diopters (mean +8.25 diopters). There were no other ocular or systemic abnormalities. The authors classified the microphthalmia in this pedigree as nanophthalmos.

Mapping

Li et al. (2008) performed haplotype analysis in 12 affected and 16 unaffected members of a 6-generation Chinese pedigree segregating autosomal dominant nanophthalmos and obtained a maximum 2-point lod score of 3.29 on chromosome 2 at marker D2S2265 (theta = 0). Fine mapping and recombination data further refined the region of interest to a 15-cM interval between D2S1890 and D2S347 on chromosome 2q11-q14.