Choroideremia with Secondary Choroidal Neovascularization
A patient with no past medical history presented to the emergency department complaining of floaters in the right eye. Exam was notable for visual acuity of 20/70 in the right eye and 20/30 in the left eye. Intraocular pressures were 14 and 16 in the right and left eyes, respectively. Anterior segment examination was unremarkable in both eyes. There was trace cell and 1+ cell in the anterior vitreous of the right and left eyes, respectively. Posterior segment exam of both eyes demonstrated midperipheral chorioretinal atrophy. There was subretinal hemorrhage with a choroidal neovascular membrane in the right eye. Fundus autofluorescence and fluorescein angiography demonstrated midperipheral atrophy of the retinal pigment epithelium and choriocapillaris of both eyes, sparing the central macula. Fluorescein angiography confirmed the presence of a choroidal neovascular membrane in the right eye. Optical coherence tomography demonstrated parafoveal outer retinal atrophy in both eyes with a fibrovascular pigment epithelial detachment and subretinal fluid in the right eye, consistent with a choroidal neovascular membrane. Humphrey visual field 30-2 demonstrated generalized constriction in both eyes. Genetic testing revealed a hemizygous exon 2 deletion on the CHM gene. The patient received a loading dose of 3 bevacizumab injections every 4 weeks. Two additional doses of bevacizumab were required due to recurrent choroidal neovascular membrane activity. Visual acuity in the right eye at last follow-up was 20/25.
Presentation Date: 03/30/2023
Issue Date: 04/14/2023
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