Autofluorescence in female carriers with choroideremia: A familial case with a novel mutation in the CHM gene

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ABSTRACT Background Choroideremia is an X-linked chorioretinal dystrophy caused by mutations in the CHM gene. The main differential diagnosis is X-linked retinitis pigmentosa. Clinically, male patients that are affected by these two diseases have similar symptoms. This work aims to report a familial case of choroideremia initially diagnosed as X-linked retinitis pigmentosa with a novel mutation in the CHM gene, and the relevance of fundus autofluorescence (FAF) in female carriers. Materials and Methods A complete ophthalmological evaluation was done in a 37-year-old woman and her 53-year-old maternal uncle; the uncle had been diagnosed previously with X-linked retinitis pigmentosa. A visual field test, FAF imaging, full-field electroretinography, and a genetic test were performed. Results In the proband, the fundoscopy revealed diffuse changes in the retinal pigment epithelium in both eyes, and the FAF showed a speckled pattern of low- and high-density. The maternal uncle’s ophthalmological evaluation showed choroidal and retinal atrophy consistent with choroideremia. The molecular analysis revealed a pathogenic variant in the CHM gene, c.190–1 G > T. Conclusions In female carriers of choroideremia and X-linked retinitis pigmentosa, differential diagnosis may be challenging. A speckled pattern of low- and high-density in autofluorescence is commonly found in female carriers of choroideremia. FAF is a powerful tool for making a correct clinical diagnosis because the pattern in FAF is much more apparent than the visible retinal changes obtained by fundoscopy. Although it is crucial to perform molecular analysis to confirm the diagnosis, FAF is useful when genetic testing may not be readily available.