Severe Vision Loss in an Autistic Child Linked to Nutritional Deficiencies

Table of Contents

• Background: Why This Case Matters
• Case Presentation: The Patient's Story
• Medical History and Lifestyle Factors
• Physical Examination Findings
• Laboratory and Imaging Results
• Differential Diagnosis: What Could Cause This Vision Loss?
• Final Diagnosis and Confirming Tests
• Discussion: Vision Loss in Children
• Clinical Implications for Patients and Families
• Limitations of This Case Study
• Recommendations for Families
• Source Information

Background: Why This Case Matters

This case from Massachusetts General Hospital illustrates how severe nutritional deficiencies can cause devastating vision loss, particularly in children with autism who often have highly selective eating habits. While rare in developed countries, nutritional optic neuropathy represents a preventable cause of blindness that requires awareness among families and healthcare providers. The case demonstrates how multiple nutrient deficiencies can occur simultaneously and cause significant neurological damage.

Case Presentation: The Patient's Story

A 12-year-old boy with autism spectrum disorder was admitted to the hospital with severely decreased vision in both eyes. His vision problems began 6 weeks before admission and followed a distinctive pattern: worse in the morning, improving throughout the day, and worsening again at night.

Three weeks before admission, he told his parents about his vision changes. They took him to an optometry clinic, but glasses weren't prescribed. Over the next three weeks, his vision continued to deteriorate significantly.

Four days before admission, his parents noticed he was leaning heavily on them while walking. Two days before admission, he began walking into doors and walls. On the day of admission, he woke up screaming and panicked because he couldn't see at all, prompting his parents to bring him to the emergency department.

By the time of evaluation, his vision had improved slightly but remained severely impaired. He described "darkening" of his vision that was worse in his left eye. He could see shapes and colors but had difficulty identifying movement and object details.

Medical History and Lifestyle Factors

The patient had a complex medical history including premature birth at 7 months gestation, perinatal hypoxia (oxygen deprivation around birth), autism spectrum disorder, and attention deficit-hyperactivity disorder (ADHD). He had developmental delays in speech, language, cognition, and fine motor skills.

His medication included risperidone, and he had no known drug allergies. He had received all routine childhood vaccinations. The family had moved from an urban to a rural area in New England 10 months before admission.

Crucially, the patient was described as a "picky eater" with an extremely limited diet consisting almost exclusively of:

• Hamburgers
• French fries
• Ranch dressing
• Glazed doughnuts
• Juice boxes

He avoided trying new foods and did not take vitamin supplements because he disliked their taste or texture. This highly restricted dietary pattern continued for an extended period before his symptoms developed.

Physical Examination Findings

On examination, the patient's vital signs were normal: temperature 36.2°C, blood pressure 104/71 mm Hg, heart rate 94 beats per minute, and oxygen saturation 98%. His height was 156 cm (70th percentile), weight 40.3 kg (38th percentile), and body mass index (BMI) 16.6.

Key examination findings included:

• Visual acuity limited to hand motion in both eyes (extremely poor vision)
• Mild periorbital swelling (puffiness around eyes)
• Keratinization of the conjunctiva in both eyes (abnormal drying and thickening of eye surface tissue)
• Pallor of the optic disk in both eyes (suggesting optic nerve damage)
• Toe walking and request for assistance when walking
• Horizontal ridges on toenails (called Beau's lines, often associated with nutritional deficiencies)
• Scattered bruises on arms and legs
• Pale appearance

Laboratory and Imaging Results

Laboratory testing revealed several abnormalities as shown in Table 1. Notable findings included hemoglobin of 12.3 g/dl (low normal), elevated alkaline phosphatase of 422 U/liter, low albumin of 3.6 g/dl, low total protein of 5.9 g/dl, and elevated prothrombin time of 17.1 seconds with INR of 1.4 (indicating possible clotting abnormalities).

Magnetic resonance imaging (MRI) of the head and orbits showed subtle hyperintensity (brightness) of the mid-intraorbital segments of both optic nerves on fluid-sensitive sequences, suggesting inflammation or damage. The imaging also revealed diffuse heterogeneous thickening of the calvarium (skull bone).

No enhancement was seen after contrast administration, ruling out many inflammatory or infectious processes. No compressive lesions or tumors were identified.

Differential Diagnosis: What Could Cause This Vision Loss?

The medical team considered multiple possible causes for the patient's vision loss, systematically evaluating each category:

Autoimmune or Inflammatory Diseases

Conditions like multiple sclerosis, neuromyelitis optica spectrum disorder, and myelin oligodendrocyte glycoprotein antibody disease were considered but deemed unlikely because these typically cause more rapid vision loss with eye pain and optic disk swelling, which were absent in this case.

Genetic Diseases

Genetic conditions like autosomal dominant optic atrophy or Leber's hereditary optic neuropathy were possible but less likely given the rapid progression and severity of vision loss that's uncharacteristic of these disorders.

Toxins

Toxic optic neuropathy from medications or environmental exposures was considered but unlikely given no history of exposure to known optic nerve toxins like ethambutol, methanol, or heavy metals.

Nutritional Deficiencies

This emerged as the most likely category given the patient's extremely restricted diet. Specific nutrient deficiencies considered included:

• Vitamin A deficiency: Could explain night vision problems, conjunctival changes, and optic nerve damage
• Copper deficiency: Could cause optic neuropathy and neurological symptoms
• Zinc deficiency: Could contribute to vision problems and explain the nail changes
• Vitamin B12 deficiency: Less likely given normal neurological exam and absence of anemia

The medical team noted that nutritional deficiencies often occur together in patients with selective eating patterns, particularly those with autism spectrum disorder.

Final Diagnosis and Confirming Tests

The final diagnosis was nutritional optic neuropathy due to multiple nutritional deficiencies, specifically vitamin A, copper, and zinc deficiencies.

Diagnostic testing confirmed severely deficient levels of:

• Vitamin A: Less than 5.0 μg/dl (reference range: 12.8-81.2 μg/dl)
• Copper: 46 μg/dl (reference range: 75-145 μg/dl)
• Zinc: 61 μg/dl (reference range: 66-110 μg/dl)

The patient also had severe deficiencies in 25-hydroxyvitamin D and vitamin C, confirming multiple nutritional deficits resulting from his extremely limited diet.

Discussion: Vision Loss in Children

Vision impairment in children is relatively uncommon, affecting approximately 8% of cases in large studies. When severe vision loss does occur, it's most commonly attributed to inherited eye diseases or optic atrophy from various causes.

In studies of optic atrophy in children, the most common causes are:

• Tumors (29% of cases in one study)
• Prematurity and related complications (16% in recent studies)
• Hydrocephalus and other neurological conditions

Nutritional causes of optic neuropathy are exceptionally rare in developed countries, representing less than 1% of cases in most studies. This makes the current case particularly noteworthy as it demonstrates how selective eating patterns in children with autism can lead to severe nutritional deficiencies with serious neurological consequences.

Clinical Implications for Patients and Families

This case has several important implications for families, particularly those with children who have selective eating habits:

First, extremely restricted diets can cause serious medical complications, including permanent vision loss. The nutrients involved in this case—vitamin A, copper, and zinc—are essential for proper neurological function and vision.

Second, children with autism spectrum disorder are at particular risk for nutritional deficiencies due to their frequent food aversions and sensory sensitivities around food textures and tastes.

Third, the pattern of vision changes (worse in morning, improving through day) can be characteristic of certain types of optic neuropathies and should prompt urgent medical evaluation.

Finally, nutritional deficiencies are treatable if identified early, but delayed diagnosis can lead to permanent damage as occurred in this case.

Limitations of This Case Study

As a single case report, this study has several limitations. The findings represent one individual's experience and may not generalize to all patients with similar symptoms.

The patient's autism and communication challenges limited some aspects of the examination and testing. Cooperation difficulties prevented complete retinal examination and more detailed vision testing that might have provided additional diagnostic information.

The case also doesn't establish how common such severe nutritional deficiencies are among children with selective eating patterns, nor does it determine the exact duration of deficiency needed to cause such severe symptoms.

Recommendations for Families

Based on this case, families with children who have restrictive eating patterns should consider the following:

1. Regular nutritional monitoring: Children with extremely limited diets should have periodic blood tests to check for vitamin and mineral deficiencies
2. Professional nutritional support: Work with dietitians or nutritionists who specialize in feeding difficulties to expand dietary variety safely
3. Vitamin supplementation: Consider appropriate vitamin supplements under medical guidance, even if children resist them due to texture or taste issues
4. Vision monitoring: Be alert to changes in visual behavior, particularly complaints of darkening vision, night vision difficulties, or changes in visual acuity
5. Early medical evaluation: Seek prompt medical attention for any sudden or progressive vision changes, as early intervention may prevent permanent damage

For children with autism spectrum disorder, working with feeding specialists who understand sensory issues can help gradually expand food acceptance while ensuring nutritional needs are met.

Source Information

Original Article Title: Case 25-2024: A 12-Year-Old Boy with Autism and Decreased Vision

Authors: Eric D. Gaier, M.D., Ph.D., Camilo Jaimes, M.D., Ryan A. Gise, M.D., Amy E. Armstrong-Javors, M.D., and Sarah M. Kadzielski, M.D.

Publication: The New England Journal of Medicine, August 15, 2024; 391:641-50

DOI: 10.1056/NEJMcpc2309726

This patient-friendly article is based on peer-reviewed research from Massachusetts General Hospital case records. It maintains all significant medical findings, laboratory values, and clinical details from the original publication while making the information accessible to patients and families.