Diagnosis of choroideremia

Choroideremia is an X-linked hereditary chorioretinal degeneration caused by mutations in the CHM gene. The disease is characterized by a slow progressive course and manifests symptomatically in the first decade of life with the development of nyctalopia followed by deterioration of visual functions up to complete blindness. Objective. To present a clinical case of a patient with choroideremia, re-examined after a long period of time (35 years). Material and methods. Patient A. has been observed with complaints of progressive deterioration of vision, loss in the visual field for 35 years. On examination, the best corrected visual acuity (BCVA) OD was 0.1 n/c; BCVA on OS =0.05. Intraocular pressure: OU – 16 mm Hg. A comprehensive diagnostic examination was performed, including standard and special diagnostic methods. Results. According to optical coherence tomography with an enhanced depth imaging module (EDI-OCT), loss of the outer retinal layers, absence of the retinal pigment epithelium layer, atrophy and sclerosis of the choroid were observed in the macular zone. Fluorescein angiography images of the eye showed a central residual island of preserved pigment epithelium with serrated (scalloped) edges, according to laser speckle flowgraphy there was almost complete absence of relative blood flow velocity. As a result of using a multimodal approach to diagnostics, taking into account the patient’s complaints and anamnesis, the following diagnosis was made: OU Choroideremia. Dynamic observation is recommended. Conservative treatment courses. Conclusions. Using a multimodal approach, morpho-functional signs of the clinical picture of the disease were comprehensively described, confirming the unfavorable nature of the course of choroideremia and the need for regular examination of patients. Key words: choroideremia, hereditary diseases of the choroid, optical coherence tomography, laser speckle flowgraphy