MRVI1
MRVI1: A Rare Genetic Disorder Impacting Vision
Description
MRVI1, also known as microcephaly, retinopathy, ventricular septal defect, and intellectual disability syndrome 1, is an extremely rare genetic condition that primarily affects multiple systems in the body, including the brain, eyes, heart, and other organs. It is caused by mutations in the MRVI1 gene, which plays a crucial role in regulating cell division and growth.
Associated Diseases
MRVI1 is associated with a spectrum of clinical features that can vary widely between individuals. Some of the most common associated diseases include:
- Microcephaly: A condition characterized by an abnormally small head circumference, often indicative of impaired brain growth.
- Retinopathy: Damage to the retina, the light-sensitive tissue at the back of the eye, resulting in varying degrees of vision impairment or blindness.
- Ventricular Septal Defect (VSD): A hole in the wall that separates the two lower chambers of the heart, leading to abnormal blood flow.
- Intellectual Disability: Cognitive impairments affecting general intellectual functioning, language skills, and social abilities.
Did you Know ?
The occurrence of MRVI1 syndrome is exceedingly rare, with an estimated prevalence of less than 1 in 1 million live births. This rarity poses challenges in conducting large-scale research studies and obtaining detailed clinical information.
