Microphthalmia

I (W. Wertelecki, M.D.) see bilateral underdeveloped ocular globes (microphthalmia). In this severe instance it is obvious that the vision is either absent or very limited. From an evolutionary perspective, vision is fundamental for survival and therefore reflects the impacts of multiple genes and mechanisms of their expression (pathogenesis) that may be negatively impacted by many factors (etiology). The etiology of microphthalmia spans the gamut of environmental teratogens and genetic mutations. One early essential clarification step is a competent search for concurrent developmental alterations. Among the leading teratogens is alcohol and various viral infections. Among the leading cytogenetic causes is trisomy 13 (13+) or partial deletions 13q-. A large number of gene mutations are associated with microphthalmia, indicative of the multiplicity of developmental pathways negatively impacted. It is important to note that anophthalmia cannot be clinically diagnosed – the ocular globes may be minimal in size and may be only detectable by autopsy.

PERSPECTIVE, see another instance.