Symmetric Bilateral Macular Atrophy in Mucolipidosis type 3: A Rare Manifestation.

Purpose: Describe a case of symmetric bilateral macular atrophy as an ophthalmological manifestation of Mucolipidosis type 3.

Methods: Multimodal retinal imaging evaluation was performed, with color fundus photograph, fundus autofluorescence, fluorescein angiography and optical coherence tomography. Genetic testing confirmed the systemic diagnosis.

Results: Genetic testing confirmed the diagnosis of Mucolipidosis type 3 and macular bilateral atrophy was considered a rare manifestation of the systemic disease.

Discussion: Ophthalmological manifestations in mucolipidosis are rare, with corneal opacities being most reported. Our patient presented bilateral macular atrophy, which had not been previously described in association with the disease, and is important to consider different diagnosis.

Conclusion: It is important to consider different diagnosis, such as retinal dystrophies and conditions causing macular atrophy, and this case highlights the importance of considering rare ophthalmological manifestations in syndromic diseases.