Lenz microphthalmia syndrome

Disease Overview

Lenz microphthalmia syndrome is one of a group of genetic disorders known as syndromic microphthalmia. These conditions involve abnormal development of the eyes and several other parts of the body. Eye symptoms may include underdeveloped (small)or absent eyes, clouding of the lens (cataracts), uncontrolled eye movements (nystagmus),a gap or split in structures that make up the eye (coloboma) and glaucoma.[15154] These symptoms may affect one or both eyes and may cause vision loss or blindness. Other signs and symptoms may include abnormalities of the ears, teeth, hands, skeleton, urinary system, brain and heart.[15154][15155] Around 60% of people with this condition have delayed development or intellectual disability ranging from mild to severe.[15155] There are at least 10 different types of syndromic microphthalmia that are caused by mutations in different genes. Most cases of Lenz microphthalmia are caised by mutations of the BCOR gene and are inherited in an X-linked recessive pattern.[15156] Other forms of syndromic microphthalmia are inherited in different patterns depending on the gene involved. There is no specific treatment for Lenz microphthalmia, and the long term outlook is based on the symptoms.[15154]

Synonyms

• Microphthalmia syndromic 1
• MCOPS1
• Lenz dysplasia
• Syndromic microphthalmia type 1
• MAA (formerly)
• Microphthalmia or anophthalmos with associated anomalies (formerly)
• Microphthalmia Lenz type