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Ulrich Kellner, Heidi Stoehr, Simone Kellner, Silke Weinitz, Ghazaleh Farmand, Bernhard HF Weber; Variation of Clinical Findings in Choroideremia Carriers - From normal to severe. Invest. Ophthalmol. Vis. Sci. 2020;61(7):3039.
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To describe the variability of clinical findings in female carriers of CHM gene mutations and to evaluate the usefulness of clinical markers using ophthalmoscopy, optical coherence tomography (OCT), fundusautofluorescence (FAF), near-infrared autofluorescence (NIA).
Twenty female carriers (7-60 years of age at first examination:) of choroideremia (either confirmed by genetic testing or obligate carriers documented by familial examination) underwent clinical examination including ophthalmoscopy, OCT, FAF and NIA.
Clinical findings were highly variable ranging from a phenotype similar to the male phenotype of choroideremia (n=4) with marked fundus changes, constricted visual fields and visual acuity loss, patients with few mid-peripheral atrophic areas and moderate visual field defects (n=6), patients with mild, moderate or marked pigment epithelial abnormalities without notable visual functional defects (n=9) and one patient with a normal fundus appearance on ophthalmoscopy, OCT, FAF and NIA with a documented CHM-gene mutation. In patients with functional defects progression was variable over time.
Clinical findings in choroideremia carriers can be highly variable and even be normal in rare cases. Ophthalmoscopy and non-invasive retinal imaging might not be sufficient to detect all chorioderemia carriers.
This is a 2020 ARVO Annual Meeting abstract.
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