[Retinal lesions in hereditary aplastic anemia]

Area of Science:

• Ophthalmology
• Pediatrics
• Hematology

Background:

• Aplastic Constitutional Hereditary Anaemia, also known as Fanconi Anaemia (FA), is a rare genetic disorder characterized by bone marrow failure.
• FA is associated with a range of congenital anomalies and an increased risk of malignancies.
• Ocular manifestations in FA are uncommon but can be severe.

Observation:

• A 6-year-old female diagnosed with Fanconi Anemia presented with significant ophthalmic findings in her left eye.
• Examination revealed notable macular edema and a large preretinal hemorrhage (4 disc diameters) at the posterior pole.
• These ocular symptoms were directly linked to the underlying systemic condition.

Findings:

• The ophthalmic manifestations, including macular edema and preretinal hemorrhage, were directly observed in the affected child.
• The size and location of the preretinal hemorrhage indicated a significant vascular event within the eye.
• The presence of these symptoms correlated with the diagnosis of Fanconi Anemia.

Implications:

• This case highlights the importance of comprehensive ophthalmic evaluations in children diagnosed with Fanconi Anemia.
• Successful treatment of the systemic condition (Fanconi Anemia) resulted in the involution of ocular manifestations.
• Early diagnosis and management of FA are crucial for preventing or reversing potentially sight-threatening complications.