H46.2

Clinical Causes: Deficiencies of essential nutrients, particularly vitamin B12, folate, and other B-complex vitamins. Inadequate dietary intake, often seen in malnutrition, eating disorders like anorexia nervosa, or strict vegetarian/vegan diets without proper supplementation. Malabsorption syndromes such as celiac disease, Crohn's disease, or pernicious anemia that hinder nutrient absorption. Chronic alcohol abuse, which can impair nutrient absorption and utilization. Certain medications that interfere with vitamin absorption or metabolism. Medical conditions like liver disease or renal failure that affect vitamin processing.

Key Symptoms: Gradual loss of central vision, leading to difficulty reading and recognizing faces. Blurred vision or a decrease in visual sharpness. Color vision deficits, particularly loss of vibrancy or color discrimination. Visual field defects, such as blind spots or areas of reduced vision. Possible contrast sensitivity issues. In some cases, additional neurological symptoms may be present if the deficiency is severe or longstanding.

Diagnosis Path: Diagnosis involves a comprehensive eye examination, including assessment of visual acuity and color vision. Visual field testing can reveal characteristic patterns of vision loss. Blood tests are crucial to identify deficiencies of vitamin B12, folate, and other nutrients. Further tests might include tests for malabsorption syndromes, such as celiac disease panels or intrinsic factor antibodies. In some cases, neurological assessments are performed to evaluate the extent of nerve damage.

Treatment Protocols: Treatment focuses on correcting the underlying nutritional deficiencies. This often involves supplementation of deficient vitamins, particularly vitamin B12 and folate, either through dietary modifications or injections. Addressing the root cause of malabsorption or dietary inadequacy is also essential. Early intervention can lead to significant improvement or recovery of vision, but chronic or severe deficiency may result in permanent damage. Visual improvements may take weeks to months after starting treatment, emphasizing the importance of timely diagnosis.