Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft · 1996
[Phenocopies of hereditary retinal degenerations].
Клинический случайАннотация на английскомСтатьяПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод в очереди
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
Kellner U, Helbig H, Foerster M H
Аннотация
BACKGROUND: Phenocopies of retinal degenerations mimic the clinical signs of inherited retinal dystrophies. The purpose of this study is to discuss the difficulties of differential diagnosis.
METHODS: Four patients were examined ophthalmologically and by standard electroretinography (ERG).
RESULTS: (a) A 19-year-old woman presented with progressive visual loss, bone spicules, concentric narrowing of visual fields and extinguished ERG responses. At 3 years of age, she had developed a retinopathy induced by an infection with measles. (b) A 27-year-old man had bilateral visual loss, night blindness, pigmentary retinal changes, marked attenuation of visual fields and a reduced ERG. All signs of syphilitic retinopathy were regressive under antibiotic therapy. (c) A 59-year-old man showed a visual loss in the left eye, bilateral photophobia, color vision disturbances and a ring scotoma. Cone responses were nonrecordable in the ERG. A birdshot chorioretinopathy was suggested by ophthalmoscopic appearance and HLA typing. (d) A 40-year-old woman presented with paravenous pigmented retinochoroidal atrophy associated with Behcet disease.
CONCLUSION: Systemic viral or bacterial inflammation as well as autoimmune disorders may present as phenocopies of hereditary retinal degenerations. A faulty diagnosis may have serious consequences, because necessary therapy may be withheld. Moreover, the misdiagnosis of a hereditary retinal degeneration may have severe effects on the psychic and social status of the patient.
METHODS: Four patients were examined ophthalmologically and by standard electroretinography (ERG).
RESULTS: (a) A 19-year-old woman presented with progressive visual loss, bone spicules, concentric narrowing of visual fields and extinguished ERG responses. At 3 years of age, she had developed a retinopathy induced by an infection with measles. (b) A 27-year-old man had bilateral visual loss, night blindness, pigmentary retinal changes, marked attenuation of visual fields and a reduced ERG. All signs of syphilitic retinopathy were regressive under antibiotic therapy. (c) A 59-year-old man showed a visual loss in the left eye, bilateral photophobia, color vision disturbances and a ring scotoma. Cone responses were nonrecordable in the ERG. A birdshot chorioretinopathy was suggested by ophthalmoscopic appearance and HLA typing. (d) A 40-year-old woman presented with paravenous pigmented retinochoroidal atrophy associated with Behcet disease.
CONCLUSION: Systemic viral or bacterial inflammation as well as autoimmune disorders may present as phenocopies of hereditary retinal degenerations. A faulty diagnosis may have serious consequences, because necessary therapy may be withheld. Moreover, the misdiagnosis of a hereditary retinal degeneration may have severe effects on the psychic and social status of the patient.