Choroideremia presenting as vision loss secondary to choroidal neovascularization

ABSTRACT

Background

Choroidal neovascularization (CNV) is a rare complication of choroideremia that occurs secondary to relative atrophy of the retinal pigment epithelium and eventual rupture of Bruch’s membrane. The ideal management of CNV in choroideremia is unclear.

Materials and Methods

Case report.

Observations

A 14-year-old male with no known ocular history presented to the eye emergency department complaining of a central scotoma in the right eye for 4 days. He had no past medical history and family history was unremarkable for known ocular disease. Visual acuity was 20/70 in the right eye and 20/30 in the left eye. Posterior segment exam revealed chorioretinal atrophy extending from the outer macula to the midperiphery in both eyes. There was CNV with associated subretinal hemorrhage in the right eye. Optical coherence tomography demonstrated the presence of CNV with subretinal fluid in the right eye and parafoveal outer retinal atrophy in both eyes. Genetic testing revealed a hemizygous exon 2 deletion on the CHM gene, pathogenic for choroideremia. The patient received a total of 3 injections 4 weeks apart followed by 1 injection 6 weeks later with resolution of the subretinal hemorrhage and reduction in CNV size with improvement in visual acuity to 20/20 at last follow-up exam.

Conclusions and Importance

Choroidal neovascularization is a rare cause of central vision loss in patients with choroideremia. In this report, we demonstrate a good functional and anatomic response to intravitreal bevacizumab in a 14-year-old patient with undiagnosed choroideremia who presented with CNV-induced central vision loss.

KEYWORDS:

• Choroideremia
• choroidal neovascularization
• intravitreal anti-vascular endothelial growth factor

Declaration of interest

The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.

Disclosure statement

No potential conflict of interest was reported by the author(s).

Additional information

Funding

The funding organizations did not play any role in the design or conduct of this prospective study. Audina Berrocal is a consultant for Alcon, DORC, Zeiss, and Oculus. Byron Lam reports grant funding from Biogen, AGTC, Allergan, Nanoscope, Ocugen, Endogena, and Spark Therapeutics; he has served as a consultant for ProQR Therapeutics, Biogen, Editas, Janssenm and Allergan. Thomas Lazzarini is a consultant for Genentech and Regenxbio. Bascom Palmer Eye Institute receives grant funding from the National Institutes of Health [Core Grant P30EY014801].