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Updated: Jun 5, 2025

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AN INFILTRATIVE CHOROIDAL LESION.

Yanliang Li¹, Hesham Gabr, William F Mieler

¹Department of Ophthalmology and Visual Sciences, University of Illinois at Chicago, Chicago, Illinois.

Retinal Cases & Brief Reports

|December 12, 2024

Summary

A rare case of primary choroidal lymphoma (PCL) was diagnosed using choroidal biopsy and MYD88 genetic testing. This distinctive finding led to effective treatment and normalization of the choroidal infiltrate.

Keywords:

MYD88 mutation choroidal fine needle aspiration biopsy primary choroidal lymphoma

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Area of Science:

Ophthalmology
Oncology
Genetics

Background:

Primary choroidal lymphoma (PCL) is a rare malignancy.
Diagnosis can be challenging due to non-specific clinical presentations.

Purpose of the Study:

To report a distinctive case of PCL.
Highlight the utility of choroidal biopsy and MYD88 testing in diagnosis.

Main Methods:

A 55-year-old male presented with progressive blurry vision and a posterior pole lesion.
Initial biopsies were inconclusive; a second choroidal fine needle aspiration biopsy (FNAB) with MYD88 testing was performed.

Main Results:

The second FNAB revealed a rare in-frame deletion of MYD88 (p.D288_T294del).
This genetic finding confirmed the diagnosis of PCL.

Conclusions:

Diagnosis of PCL was established through targeted genetic testing.
Treatment with methotrexate and radiotherapy led to normalization of the choroidal infiltrate.