Acquired retinoschisis and vitreous hemorrhage as unusual findings in choroideremia: Case report

Author:

Mucciolo Dario Pasquale1ORCID,Murro Vittoria1,Giorgio Dario1,Sodi Andrea1,Passerini Ilaria2,Virgili Gianni1,Giansanti Fabrizio1

Affiliation:

1. Department of Neuroscience, Psychology, Drug Research and Child Health, University of Florence, Florence, Italy

2. Department of Genetic Diagnosis, Careggi Teaching Hospital, Florence, Italy

Abstract

Purpose: To report a case of choroideremia characterized by peripheral retinoschisis with vascular abnormalities and vitreous hemorrhage. Observations: A 58-year-old man affected by advanced-stage choroideremia was diagnosed with peripheral retinoschisis in both eyes. Vitreous hemorrhage was present in the right eye with a peculiar clot-like lesion at the periphery. At the 1-year follow-up, the vitreous hemorrhage had reabsorbed and the vascular clot-like lesion in the periphery had almost completely disappeared. Conclusion and importance: We have reported fundoscopic and OCT features of peripheral-acquired retinoschisis with vascular abnormalities in a patient with choroideremia. OCT examination is extremely useful in clinical evaluation of the peripheral retinal alterations in these cases, where the absence of the retinal pigment epithelium and the choriocapillaris pose many diagnostic difficulties.

Publisher

SAGE Publications

Subject

Ophthalmology,General Medicine

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