← Назад

Birdshot chorioretinopathy

ORPHA:179DiseaseUnknownAdult, Elderly

Ассоциированные гены (1)

HLA-A
major histocompatibility complex, class I, A
Major susceptibility factor in
OMIM: 142800

Фенотипы (23)

Очень частый (80–99%)8
HP:0000532Chorioretinal abnormality
HP:0000572Visual loss
HP:0000610Abnormal choroid morphology
HP:0007906Ocular hypertension
HP:0008046Abnormal retinal vascular morphology
HP:0011505Cystoid macular edema
HP:0011531Vitritis
HP:0030609Photoreceptor layer loss on macular OCT
Частый (30–79%)12
HP:0007843Attenuation of retinal blood vessels
HP:0011508Macular hole
HP:0030329Retinal thinning
HP:0030644Blind-spot enlargment
HP:0100014Epiretinal membrane
HP:0100533Inflammatory abnormality of the eye
HP:0100832Vitreous floaters
HP:0200056Macular scar
HP:0000518Cataract
HP:0000543Optic disc pallor
HP:0000613Photophobia
HP:0000622Blurred vision
Периодический (5–29%)3
HP:0000541Retinal detachment
HP:0011506Choroidal neovascularization
HP:0030530Arcuate scotoma

Эпидемиология (2)

Point prevalence
1-9 / 1 000 000
Worldwide
Point prevalence
1-9 / 1 000 000
United States

Лекарства и терапия

Источник: Open Targets Platform (в реальном времени)

Клинические исследования

Источник: ClinicalTrials.gov (в реальном времени)

Внешние ресурсы