Lenz microphthalmia syndrome

Lenz microphthalmia syndrome is a very rare inherited disorder characterized by abnormal smallness of one or both eyes, sometimes with droopy eyelids, resulting in visual impairment or blindness. Eye problems may include coloboma, microcornea and glaucoma, and some affected infants have no eyes at all. Most affected infants have developmental delay and intellectual disability, ranging from mild to severe. Other findings can include an unusually small head and malformations of the teeth, ears, fingers or toes, skeleton and genitourinary system. The range and severity vary from case to case, and formal diagnostic criteria do not exist. It is named after the German geneticist Widukind Lenz.