Review Article

Nanophthalmos: A Review of the Clinical Spectrum and Genetics

Table 1

The clinical spectrum of the small eye phenotype.

AnophthalmiaAbsence of the eye

Simple microphthalmosShort axial length due to global eye reduction with no other findings

Complex microphthalmosShort axial length due to global eye reduction and associated ocular malformations (e.g., colobomas, persistent fetal vasculature, retinal dysplasia)

Relative anterior microphthalmosShort axial length due to reduced anterior chamber dimension only, with normal posterior segment dimension and normal scleral thickness

Posterior microphthalmosShort axial length due to reduced posterior segment dimension with normal anterior chamber dimensions

NanophthalmosShort axial length due to small anterior and posterior segments with thickened choroid and sclera and normal lens volume