Coloboma occurs in 1 of every 10,000 people. Interestingly, 80 to 90% of children diagnosed with CHARGE have Coloboma. CHARGE is an acronym for a group of developmental abnormalities:
C- Colobomas and Cranial Nerves
H- Heart problems
A-Atresia of the choanae (blocked or narrow nasal passages)
R- Retardation of Growth
G- Genital and urinary abnormalities
E- Ear and hearing abnormalities
Fortunately, this genetic condition is extremely rare in patients diagnosed with Coloboma. Determining this disorder can be difficult as these symptoms can manifest in other disorders as well, such as Delleman syndrome and Wolf-Hirschhorn syndrome, also rare genetic disorders. A great percentage of children diagnosed with CHARGE have an alteration in the CHD7 gene located on chromosome 8. This gene’s transformation can verify the diagnosis of CHARGE in those cases. However, in less than half the cases, a mutated gene cannot be found. For more information about this disorder, check out: http://www.chargesyndrome.org/