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Carlos - Leber hereditary optic neuroretinopathy (Peru) Posted on November 17, 2014

Author Tracy Views Posted at 2014/11/17

Name: Kong Garcia Carlos Miguel 
Sex: Male
Age: 21
Diagnosis:Leber hereditary optic neuroretinopathy
Admission Date: 2014-10-15
Treatment time:21 days

Before treatment: Carlos sudden showed visual deterioration without inducement in January, 2014. The decline of vision aggravated gradually. At the onset of his condition, 5 months ago, Carlos went to a specialized hospital to take an examination of his gene and it showed gene mutation of Mitochondrial DNA 11778G-A. Then he was diagnosed Leber Hereditary Optic Neuroretinopathy. Right eye could distinguish fingers from 30cm. Left eye had difficulty to distinguish fingers from a distance of 5cm. The color vision of both eyes was declined gradually.

Since the onset of the disease, the patient's mentality has been good,normal weight, diet, sleep, defecation and urination.

Admission PE: Bp: 128/78mmHg; Hr: 68/min, Br: 18/min. Carlos Kong's development and nutrition were normal. The body type was normal. Height: 175cm, weight: 82Kg. The skin and mucous was normal. The thorax was symmetrical. The respiratory sounds of both lungs were clear, with moist rales. The heart sounds were strong, the rhythm was regular, and there was no obvious murmur in the valve area. The abdomen was flat and soft, with no obvious masses. Through palpation, the liver and spleen were not enlarged. There was no edema of both lower limbs.

Nervous System Examination: Carlos Kong was alert and his speech was clear. His memory, orientation and calculation ability were almost normal. Both pupils were equal in size and round, the diameter was 2.5mms. Right eye was sensitive to direct light reflex and consensual reflex. Left eye was slow to light reflex. The color vision of both eyes declined. He had difficulty to distinguish similar color or light color. Both eyes had poor eyesight. Right eye could distinguish fingers from 30cm. Left eye had difficulty to distinguish fingers from a distance of 5cm. Both eyeballs could move freely to each side. There was no nystagmus in both eyes. Under ophthalmoscope: both fundus was presented with dark red, with no sediment. The border of optic nerve head was unclear. The macula lutea was unclear. The arteriovenous ratio was 2:3. The forehead wrinkle pattern was symmetrical, the nasolabial sulcus was equal in depth, the teeth were symmetrical and the tongue was centered in the oral cavity. There was flexible movement in the neck. The muscle tone and muscle strength of all four limbs was normal; His tendon reflexes of limbs were normal. The pathological reflex was negative. The deep sensation and superficial sensation were normal. The coordinated movements were normal. There was no meningeal irritation.

Treatment:We initially gave Carlos a complete examination and he was diagnosed as Leber Hereditary Optic Neuroretinopathy. He received treatment to activate and launch his neuro recovery and nerve regeneration, activate his own stem cells, improve his blood circulation, trophic nerve and neural restoration with medications, accompanied by daily physical rehabilitation training for eyes.

Post treatment: Both vision and the ability distinguish color have improved:Right eye can distinguish fingers from 1 meter. Left eye can distinguish finger from 30cm. He has better ability to distinguish similar color; the color of both fundus has changed. The dark red color of both fundus has been lighten. There is no sediment in both fundus. The border of optic nerve head is clearer than before. The macular region can be seen in left eye. But the border of macular region in right eye is still unclear. The arteriovenous ratio is 2:3.



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