What is a classic ocular finding in Fanconi anemia?

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In Fanconi anemia, a classic ocular finding is strabismus. This condition is a genetic disorder that primarily affects the bone marrow, leading to aplastic anemia and increased susceptibility to malignancies. The ocular manifestations, such as strabismus, arise due to the systemic effects of the disease and associated physical anomalies.

Strabismus, which refers to the misalignment of the eyes where they do not properly coordinate and focus on the same point, can occur as a part of several syndromic presentations, including Fanconi anemia. This may be attributed to various developmental issues rather than direct ocular pathology.

Understanding the systemic nature of Fanconi anemia helps clarify why patients may exhibit strabismus, while the other options, such as ptosis, eye color change, and visual field loss, are not primary or classic findings associated with this condition. Ptosis typically relates to neuromuscular issues or cranial nerve involvement, and both eye color change and visual field loss are not characteristic of Fanconi anemia specifically. Thus, strabismus stands out as the more definitive ocular presentation in this syndrome.

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