Lenz Microphthalmia syndrome
Lenz microphthalmia syndrome can be caused by a mutation to the NAA10 gene (but other genes can also cause this syndrome too). Lenz microphthalmia is a condition characterised by abnormal development of the eyes and several other parts of the body. It occurs almost exclusively in males.
The eye abnormalities associated with Lenz microphthalmia syndrome can affect one or both eyes. Our children with this condition are born with eyeballs that are abnormally small or absent, leading to vision loss or blindness.
Other eye problems can include clouding of the lens (cataract), involuntary eye movements (nystagmus), a gap or split in structures that make up the eye, and a higher risk of an eye disease called glaucoma.
Abnormalities of the ears, teeth, hands, skeleton, and urinary system are also frequently seen in Lenz Microphthalmia syndrome. Less commonly, various heart defects have been reported in affected individuals. The majority of people with this condition have delayed development or intellectual disability which can vary ranging from mild to severe.
We currently have only one family diagnosed in our community so would love to find them support and hear from you if your child has been diagnosed with NAA10 Lenz microphthalmia so please Get in Touch!