Optic atrophy is not the name of a disease, but rather a morphological change that refers to the thinning of the entire optic nerve due to pathological damage to the retinal ganglion cells and their axons caused by any disease. It is a general term in pathology, typically occurring when the axons of ganglion cells degenerate between the retina and the lateral geniculate body.

bubble_chart Etiology

It can be caused by various reasons, including ischemia, inflammation, compression, trauma, and demyelinating diseases, as follows:

1. Secondary optic atrophy due to intracranial hypertension

2. Intracranial inflammation, commonly seen in tuberculous meningitis or chiasmatic arachnoiditis

3. Retinal diseases

⑴ Vascular, such as central retinal artery or vein occlusion, arteriosclerosis of the optic nerve itself, disruption of normal nutrient vessels, hemorrhage (gastrointestinal tract, uterus, etc.)

⑵ Inflammation

⑶ Post-glaucoma

⑷ Retinitis pigmentosa

⑸ Refsum disease

⑹ Amaurotic familial idiocy

4. Optic neuritis and optic neuropathy

⑴ Vascular, such as ischemic optic neuropathy

⑵ Demyelinating diseases

⑶ Vitamin deficiency

⑷ Poisoning due to lead or other metals

⑸ Herpes zoster

⑹ Syphilitic

5. Compression-related causes

Tumors, including meningioma, craniopharyngioma, pituitary adenoma, aneurysm (anterior communicating artery aneurysm)

Bone diseases, including Paget's disease, osteitis deformans, craniostenosis, etc.

Orbital tumors

6. Trauma

7. Metabolic diseases, such as diabetes, gangliosidosis, etc.

8. Hereditary diseases

Leber's disease, cerebellar ataxia, peripheral neuropathy such as Charcot-Marie-Tooth disease

10. Miscellaneous

In children, the causes are more complex, as follows:

1. Chromosomal abnormalities

Cri-du-chat syndrome, deletion of the long arm of chromosome 18

2. Lipid storage diseases

Tay-Sachs disease, Sandhoff's disease, lactosyl ceramidosis, Niemann-Pick disease, abetalipoproteinemia (Bassen-Kornzweig syndrome)

3. Mucopolysaccharidoses

Hurler's mucopolysaccharidosis, homocystinuria

4. Mineral metabolism defects and related disorders

Menkes disease, juvenile diabetes, cystic fibrosis of the pancreas, generalized gangliosidosis, Zellweger syndrome, Albers-Schönberg disease

5. Hereditary retinitis pigmentosa

Usher syndrome, Kearns-Sayre syndrome, Alström syndrome

6. Gray matter diseases

Batten disease, infantile neuroaxonal dystrophy, Hallervorden-Spatz disease

7. Cerebellar ataxia

Behr's optic atrophy, Marie's ataxia, hereditary motor or sensory polyneuropathy, Charcot-Marie-Tooth disease, olivopontocerebellar degeneration

8. Primary white matter diseases

Dysmyelinating leukodystrophy, Krabbe's disease, spongiform leukodystrophy (Canavan), sudanophilic leukodystrophy, Pelizaeus-Merzbacher disease, Cockayne syndrome

9. Demyelinating diseases

Adrenoleukodystrophy, multiple sclerosis

10. Familial optic atrophy

Leber's disease, infantile optic atrophy (recessive, dominant)

11. Increased intracranial pressure

Pseudotumor cerebri, intracranial hemorrhage, craniostenosis, aqueductal stenosis hydrocephalus

bubble_chart Clinical Manifestations

The main manifestations are decreased vision and a grayish-white or pale optic disc. The normal color of the optic disc is determined by various factors. Normally, the temporal side of the optic disc is generally lighter in color than the nasal side, and the degree of temporal pallor is also related to the size of the physiological cup. The optic disc in infants is often pale, which may be due to ischemia caused by pressure on the eyeball during examination. Therefore, the diagnosis of optic atrophy cannot be based solely on the structure and color of the optic disc. It is necessary to observe changes in the retinal blood vessels and the peripapillary nerve fiber layer, especially through visual field and color vision tests, to comprehensively analyze and determine the degree of pallor in the optic disc. When the peripapillary nerve fiber layer is damaged, slit-like or wedge-shaped defects may appear. The former appears darker due to exposure of the retinal pigment layer, while the latter appears redder due to exposure of the choroid. If the damage occurs in the upper or lower margin of the optic disc, it is easier to identify because the nerve fiber layer in these areas is particularly thickened. If the damage is far from the optic disc area, it is harder to detect due to the thinning of the nerve fiber layer in these regions. Focal atrophy around the optic disc often indicates lesions in the nerve fiber layer, caused by thinning in that area. Although this can often be detected with a fundus examination, it is easier to observe with red-free ophthalmoscopy and fundus photography. The small blood vessels on the optic disc usually number 9 to 10. If optic atrophy occurs, the number of these small vessels will decrease. Additionally, thinning, narrowing, or occlusion of retinal arteries may be observed, though this is not present in all cases of optic atrophy. Generally, retrobulbar optic atrophy does not affect these vessels. If optic atrophy is accompanied by changes in retinal blood vessels, it must directly impact these vessels to cause such changes. Optic atrophy is commonly classified into primary and secondary types: in the former, the optic disc margins are clear, and the physiological cup and lamina cribrosa are visible; in the latter, the margins are blurred, and the physiological cup and lamina cribrosa are not visible. Visual field testing should use small red targets, which may reveal central scotomas, nasal defects, temporal island-like fields, concentric narrowing to tubular fields, or bitemporal hemianopia. Color vision impairment is often acquired, with red-green defects being most common. Color arrangement tests are superior to general color vision tests. Early-stage fundus fluorescein angiography is of little significance, but in the advanced stage, reduced fluorescence of the optic disc and late-stage (third stage) hyperfluorescence may be observed. Visual electrophysiological tests, including electroretinography (ERG), electrooculography (EOG), and visual evoked potentials (VEP), can provide auxiliary information for diagnosis and prognosis assessment.

Diagnosis cannot be made solely based on the pallor or graying of the optic disc; it must be combined with visual function tests. Since this condition can result from various causes, it is essential to identify the disease cause whenever possible. First, the possibility of intracranial space-occupying lesions or sexually transmitted diseases should be ruled out, supplemented by skull X-rays and other examinations, which can generally be included as routine procedures. Other tests such as cranial CT and MRI may also be selectively employed.

bubble_chart Treatment Measures

The primary focus should be on disease cause treatment, followed by a combination of Chinese and Western medicine. Once optic nerve atrophy occurs, complete recovery is nearly impossible, but it is entirely possible to restore or maintain the function of the remaining nerve fibers. Therefore, patients should be encouraged to remain confident and persistent in their treatment. Since the application of various drugs has not undergone strict double-blind trials (and sometimes is not permitted), it is difficult to determine which drugs or methods are definitively effective. Commonly used medications include neurotrophic drugs such as vitamin B₁, B₁₂, ATP, and coenzyme A, as well as vasodilators and blood-activating stasis-resolving drugs like niacin, dibazol, vitamin E, venoruton, and compound formula Salvia. In recent years, certain results have been achieved through hyperbaric oxygen therapy, external counterpulsation, and acupoint injections of 654-2. Chinese medicinals such as Middle-Tonifying Qi-Replenishing Decoction and acupuncture therapy have long been proven effective and should continue to be explored and refined. It is also worth mentioning that quitting smoking and avoiding strong alcohol, strengthening the body's constitution, and practicing health exercises or qigong can have certain effects in some cases.