Giuliana-Aplasia of the optic nerve-(Argentina)

Name: Giuliana Micol Soler Nunez                      
Sex: female
Country: Argentina
Age: 6
Diagnoses: 1. Aplasia of the optic nerve 2. Hypopituitarism
3. Dyslipidemia

Giuliana has suffered from a vision defect for the past 9 months. After receiving the relevant examinations, she was diagnosed with aplasia of the optic nerve, but at that time she did not receive any medical treatment. The blood test revealed that the growth hormone, thyroid stimulating hormone, cortisol and adrenocorticotropic hormone level was noticeably lower than normal. Giuliana received hormone replacement therapy. She often had hypoglycemia and hypoglycemia induced seizures. This required emergency injections of hydrocortisone. At present she is still receiving hormone replacement therapy, and has the thyroid hormone level and cortisol level monitored. The near-sighted vision distance is only 15cms, but she is able to distinguish between different colors. There was no diplopia or defects of the visual field.

Nervous System Examination:
Giuliana was alert and her speech was clear. She couldn't cooperate with the memory and orientation examinations. The diameter of both pupils was 3.0mms, with sensitivity to stimuli from both direct and indirect light. There was normal perception in both eyes. She was able to distinguish between objects at a short distance (approximately 15-20cms) when facing a source of light. She could touch objects and could make out their shadows from a distance of 1 meter, but she couldn't make out the contours. The chromoptometry of the binoculus in close quarters was normal. Both eyes had normal movement. She had difficulty gazing with both eyeballs and had esotropia. Both eyeballs had difficulty with the abduction movement. There was horizontal nystagmus. The lateral visual field of both eyes was 60 degrees.

Treatment:
We initially gave Giuliana a complete examination. The doctors considered:
1. Aplasia of the optic nerve, 2. Hypopituitarism. She received treatment to improve the blood circulation in order to increase the blood supply and nourish the damaged neurons; nerve cell activation and hormone replacement supportive treatment.

Post-treatment:
Giuliana can now see the outlines of buildings about 5-10 meters distance. She can see static buildings, trees, vehicles and pedestrians clearly from 2 meters distance. She can see up to 40cms distance when facing a light source. She is better able to distinguish between multi-colored objects but has poor ability to distinguish between monochromatic objects.