What is the most likely cause of unilateral decreased visual acuity in a 5-year-old girl with multiple hyperpigmented macules, including bilateral axillary freckle-like macules, and a family history of similar skin findings?

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Differential Diagnosis for Visual Acuity Findings

The patient's presentation of bilateral axillary macules, multiple hyperpigmented macules over the trunk and extremities, and a significant difference in visual acuity between the two eyes suggests a neurocutaneous syndrome. The most likely cause of the visual acuity findings is related to this underlying condition.

  • Single most likely diagnosis

    • E) Optic glioma: This is a type of brain tumor that can occur in children, often associated with neurofibromatosis type 1 (NF1), which is suggested by the skin findings (café-au-lait macules). Optic gliomas can cause asymmetric visual acuity loss, as seen in this patient.
  • Other Likely diagnoses

    • B) Glaucoma: Although less common in children, glaucoma can cause asymmetric visual acuity loss and is associated with NF1.
    • C) Leber optic neuropathy: This is a mitochondrial inherited disorder that primarily affects young adult males but can occasionally present in childhood. However, the presence of skin findings points more towards a condition like NF1.
  • Do Not Miss (ddxs that may not be likely, but would be deadly if missed.)

    • A) Cataract: While cataracts can cause significant visual impairment, they are less likely to be associated with the skin findings described. However, a cataract in one eye could explain the asymmetric visual acuity.
    • OF) Retinal detachment: This is an emergency that can cause sudden vision loss. Although it's less likely in this context, given the chronic nature of the skin findings and the gradual onset of visual symptoms, it's crucial not to miss it.
  • Rare diagnoses

    • D) Myopia: Myopia (nearsightedness) can cause decreased visual acuity but is less likely to cause such a significant asymmetry in visual acuity between the two eyes, especially in the context of the described skin findings.
    • Other rare conditions could include various genetic or congenital disorders affecting the eyes, but these would be less likely given the specific combination of skin and visual findings presented.

Professional Medical Disclaimer

This information is intended for healthcare professionals. Any medical decision-making should rely on clinical judgment and independently verified information. The content provided herein does not replace professional discretion and should be considered supplementary to established clinical guidelines. Healthcare providers should verify all information against primary literature and current practice standards before application in patient care. Dr.Oracle assumes no liability for clinical decisions based on this content.

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