What is the prevalence of Lenz Microphthalmia Syndrome?
How many people does Lenz Microphthalmia Syndrome affect? Does it have the same prevalence in men and women? And in the different countries?
Lenz Microphthalmia Syndrome is a rare genetic disorder characterized by microphthalmia (abnormally small eyes) or anophthalmia (absence of one or both eyes), along with other developmental abnormalities. The prevalence of this syndrome is estimated to be extremely low, with only a few hundred cases reported worldwide. Due to its rarity, it is considered a very uncommon condition. Lenz Microphthalmia Syndrome can have significant impacts on vision and overall development, requiring specialized medical care and support for affected individuals.
Lenz Microphthalmia Syndrome is a rare genetic disorder characterized by microphthalmia (abnormally small eyes) or anophthalmia (absence of one or both eyes), as well as other associated abnormalities. The prevalence of this syndrome is difficult to determine precisely due to its rarity and the lack of comprehensive data. However, it is estimated to affect approximately 1 in 50,000 to 1 in 100,000 individuals worldwide.
The syndrome is believed to be inherited in an autosomal dominant manner, meaning that an affected individual has a 50% chance of passing the condition on to their children. However, sporadic cases can also occur without a family history of the syndrome.
Lenz Microphthalmia Syndrome is typically diagnosed at birth or during infancy based on the physical characteristics of the eyes and other associated abnormalities. Genetic testing can confirm the diagnosis by identifying mutations in the BCOR gene, which is known to be associated with the syndrome.
Due to its rarity, there is limited information available regarding the long-term outlook and management of Lenz Microphthalmia Syndrome. However, early intervention and appropriate medical care can help address the specific needs of affected individuals and improve their quality of life.
