Autosomal recessive chorioretinopathy-microcephaly syndrome (ARCM) is a rare genetic disorder characterized by a combination of eye abnormalities, including chorioretinopathy (damage to the retina) and microcephaly (abnormally small head size). Affected individuals may also have intellectual disability, seizures, and/or other neurological problems. ARCM is caused by mutations in the CEP290 gene and is inherited in an autosomal recessive manner. Treatment is symptomatic and supportive.

The symptoms of Autosomal recessive chorioretinopathy-microcephaly syndrome include:

-Severely reduced vision or blindness
-Microcephaly (abnormally Small head size)
-Developmental delay
-Intellectual disability
-Seizures
-Hearing loss
-Feeding difficulties
-Growth retardation
-Abnormal facial features
-Abnormalities of the hands and feet
-Abnormalities of the heart, kidneys, and other organs

Autosomal recessive chorioretinopathy-microcephaly syndrome is caused by mutations in the CEP290 gene. This gene provides instructions for making a protein that is involved in the formation of cilia, which are tiny, finger-like projections that protrude from the surface of cells. Cilia are important for the normal development and functioning of many organs and tissues, including the eyes and brain. Mutations in the CEP290 gene lead to the production of an abnormally short or nonfunctional version of the CEP290 protein, which disrupts the formation of cilia and causes the signs and symptoms of Autosomal recessive chorioretinopathy-microcephaly syndrome.

Currently, there is no known cure for Autosomal recessive chorioretinopathy-microcephaly syndrome. Treatment focuses on managing the symptoms and complications associated with the condition. This may include:

• Regular eye exams to monitor vision

• Surgery to correct any vision problems

• Physical therapy to help with motor development

• Speech therapy to help with communication

• Occupational therapy to help with daily activities

• Special education services to help with learning

• Genetic counseling to help families understand the condition and its inheritance pattern

• Supportive care to help with emotional and social issues

1. Consanguinity: Autosomal recessive chorioretinopathy-microcephaly syndrome is more likely to occur in families with a history of consanguineous marriage.

2. Genetic mutation: Autosomal recessive chorioretinopathy-microcephaly syndrome is caused by a mutation in the CEP290 gene.

3. Ethnicity: Autosomal recessive chorioretinopathy-microcephaly syndrome is more common in certain ethnic groups, such as Middle Eastern and North African populations.

At this time, there is no known cure or medications for Autosomal recessive chorioretinopathy-microcephaly syndrome. Treatment is focused on managing the symptoms and complications associated with the condition. This may include vision aids, physical therapy, occupational therapy, speech therapy, and other supportive care.