Tuesday, September 25, 2018

LHON - A Rare Disease of Blindness that Affects Young Persons

Bianca Catherine Knight has been a community organizer for persons who are disabled. Earning a JD from Belmont University in Tennessee, Bianca Catherine Knight was stricken with Leber's Hereditary Optic Neuropathy (LHON).

LHON causes vision loss in persons around 20 or 30 (more often males), usually leaving them legally blind. In LHON, the optic nerve atrophies. (The disease is named after its discoverer, German ophthalmologist Theodore Leber.)

The first sign is generally blurriness and cloudiness in the center of the visual field. The sharpness of vision and color perception significantly degrades over time, along with abilities such as reading, driving, and recognizing faces. An enlarging blind spot also appears.

Although the exact mechanism of action needs further research, LHON originates genetically in the DNA of the mitochondria. Mitochondria convert food energy into a form that feeds cells’ functions. 

LHON is inherited. It strikes both genders, but only females pass it on, even if they lack any symptoms. In a family where the gene problem is present, it is hard to tell which members will develop symptoms. Rarely, additional symptoms may develop, such as heart arrhythmias, tremors, movement disorders, and symptoms similar to muscular sclerosis. 

Diagnosis is challenging because many doctors lack familiarity with LHON. Good places to look for qualified specialists include advocacy groups, medical journal articles, and clinical trials. Other sources are university hospitals and other facilities that treat complex illnesses.