Differential Diagnosis for 16 y/o with Bilateral Painless Vision Loss
- Single Most Likely Diagnosis
- Leber's Hereditary Optic Neuropathy (LHON): A mitochondrial inherited disorder that typically affects young males, leading to bilateral, painless vision loss. The age and sex of the patient, along with the nature of the vision loss, make this a strong consideration.
- Other Likely Diagnoses
- Nutritional Deficiencies (e.g., Vitamin B12 deficiency): Certain nutritional deficiencies can lead to optic neuropathy, which may present as bilateral painless vision loss. This is particularly relevant in adolescents with restrictive diets or malabsorption conditions.
- Toxic Optic Neuropathy: Exposure to certain toxins (e.g., methanol, ethambutol) can cause bilateral optic neuropathy. The patient's history of exposure to such substances would support this diagnosis.
- Compressive Optic Neuropathy: Although less common in adolescents, conditions like thyroid ophthalmopathy or orbital tumors can compress the optic nerves, leading to vision loss. Painless vision loss could be an early sign if the compression is gradual.
- Do Not Miss Diagnoses
- Multiple Sclerosis (MS): Although MS is less common in adolescents, optic neuritis (inflammation of the optic nerve) is a frequent presenting symptom and can cause painless vision loss. Missing this diagnosis could lead to delayed treatment and worse outcomes.
- Pituitary Tumors: Tumors in the pituitary gland can compress the optic chiasm, leading to bilateral vision loss. Early detection is crucial for effective management and preservation of vision.
- Diabetic Papillopathy: In the context of diabetes, this condition can cause bilateral optic disc swelling and vision loss. Given the potential for long-term complications, identifying and managing diabetes is critical.
- Rare Diagnoses
- Kearns-Sayre Syndrome (KSS): A rare mitochondrial myopathy that can include chronic progressive external ophthalmoplegia and pigmentary retinopathy, potentially leading to vision loss. The combination of systemic and ocular symptoms would suggest this diagnosis.
- Bassen-Kornzweig Syndrome (Abetalipoproteinemia): A very rare condition characterized by malabsorption of fat and fat-soluble vitamins, leading to retinitis pigmentosa and potential vision loss. The presence of systemic symptoms like diarrhea and failure to thrive, along with vision problems, would point towards this diagnosis.
- Neuromyelitis Optica Spectrum Disorder (NMOSD): An autoimmune condition that predominantly affects the optic nerve and spinal cord, leading to vision loss and other neurological symptoms. A history of recurrent episodes of optic neuritis or transverse myelitis would support this diagnosis.