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Прогресуюча колбочкова дистрофія

ORPHA:1871· ICD-10 H35.5· Progressive cone dystrophy

Визначення(English summary)

A rare retinal dystrophy characterized by photophobia, progressive loss of visual acuity, nystagmus, visual field abnormalities, abnormal color vision, and psychophysical and electrophysiological evidence of abnormal cone function. Progressive cone dystrophy usually presents in childhood or early adult life, and patients tend to develop rod photoreceptor dysfunction in later life.

Поширеність
Unknown
Успадкування
Autosomal dominant, Autosomal recessive
Вік початку
Adult