First Author: P.Bompastor Ramos PORTUGAL
Co Author(s): A. Ramalho J. Rosendo A. Pepo A. Candeias 0 0 0 0 0 0 0 0 0
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To report clinical and functional characteristics of a three-generation family with choroideremia (CHM).
Department of Ophthalmology, Hospital Espírito Santo de Évora, Évora, Portugal.
Family members were characterized using clinical examination, fundus photography, visual fields, optical coherence tomography (OCT) and flash electroretinography (ERG).
Affected male (first generation), 74 years old, started to experience nyctalopia in the second decade of life, followed by a progressive loss of peripheral vision, and a best corrected visual acuity (BCVA) of counting fingers. He showed chorioretinal atrophy without preservation of the macula. The OCT revealed shortening of the inner and outer segments, reduced thickness of the outer nuclear layer and retinal pigment epithelium (EPR). Female carrier (second generation), 43 years old, started to experience nyctalopia 2 years ago, and had a BCVA of 20/20. She exhibited mild pigmentary alterations in the periphery of the retina, normal visual fields, OCT and ERG. Young male (third generation), 11 years old, didn’t show nyctalopia. He presented a BCVA of 20/20 and a normal fundus. Genetic testing was refused.
CHM is an X-linked chorioretinal dystrophy, characterized by a unique clinical phenotype, primarily affecting male subjects, with an estimated prevalence of 1 in 50 000. The affected men have a more severe phenotype, with pronounced visual loss, while the phenotype of the carriers is uncertain, which has been ascribed to random X-inactivation. A periodic ophthalmologic monitoring is recommended to provide the patients the best possible quality of life.