What is ADOA?
Autosomal dominant optic atrophy is a very rare hereditary disorder. The term autosomal dominant tells us something about how the condition can inherit from parent to child. The term optic indicates there is a problem with the optic nerve. The term atrophy means that this optic nerve is becoming thinner and thinner. It leads to a progressive loss of vision. The condition has interfaces – besides ophthalmology – with neurology and energy metabolism / mitochondria.
ADOA involves progressive damage of the optic nerve with pallor of the papilla (optic nerve head) and change of vision. It means a decrease in sharp vision, blurred vision, reduced contrast and abnormal color vision. Also a certain degree of penile vision and abnormal pupillary reactions may be present.
From the earliest childhood, ADOA patients experience a worsening of central vision. Gradually, the patient’s vision gets increasingly worse. The degree of low vision can vary from moderate to almost complete blindness. The disease affects approximately 1 in every 30,000 people. So far there is no treatment available that stops or cures the disease.
Cause
The cause of ADOA lies in an error in the DNA (our hereditary material). This mutation in the so-called OPA1 gene can be passed on through either the father or the mother. The OPA1 gene takes care of the production of the OPA1 protein. This protein plays an important role in the mitochondria, the energy factories of our body. Due to the genetic error there is too little or not properly functioning OPA1 protein available for the mitochondria. The energy factories break down or cannot provide enough energy. The optic nerve is very sensitive to the development of a shortage of energy. This can cause nerve fibers to break down and die.
ADOA-plus
Autosomal dominant optician-plus syndrome (ADOA-plus) is a variant of autosomal dominant optician atrophy and represents 20% of all ADOA cases. There are also other defects in different parts of the body. Examples are: deafness, muscle weakness, reduced coordination of movements and a reduced sensitivity. The severity and the amount of the physical problems differ per person.
The severity of the problems and the presence of ADOA or ADOA-plus can change both in and between families. Approximately 5% of the people who are predisposed to ADOA do not get any complaints.
Treatment
Currently, there is no treatment for ADOA or ADOA-plus. As the disease affects the optic nerve, visual aids such as glasses or contact lenses will not help improve vision damage caused by ADOA. Eye examinations, such as the measurement of visual acuity, color vision and field of vision are required on a regular basis. This is to gain insight into the course of the disease. Visually impaired aids for persons with severely impaired visual acuity can be useful.
Unfortunately, because ADOA has hardly been researched yet, the core of our mission consists of raising funds to support research on ADOA. So that ADOA patients can one day experience treatment or healing.
Interview Dr. Patrick Yu-Wai-Man Cambridge University
Because there are so many questions about ADOA, we have made a video in May 2018 of the interview with Dr. Patrick Yu-Wai-Man.