Central areolar choroidal dystrophy
ORPHA:75377DiseaseAutosomal dominantAdult
Ассоциированные гены3
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| GUCA1A | guanylate cyclase activator 1A | Disease-causing germline mutation(s) (gain of function) in | gene with protein product | 600364 |
| PRPH2 | peripherin 2 | Disease-causing germline mutation(s) in | gene with protein product | 179605 |
| GUCY2D | guanylate cyclase 2D, retinal | Disease-causing germline mutation(s) in | gene with protein product | 600179 |
Фенотипы (HPO)17
Очень частый (80–99%)2
HP:0030631Hyperautofluorescent macular lesion
HP:0031152Full-thickness macular hole
Частый (30–79%)7
HP:0000505Visual impairment
HP:0000572Visual loss
HP:0007401Macular atrophy
HP:0007663Reduced visual acuity
HP:0007894Hypopigmentation of the fundus
HP:0007924Slow decrease in visual acuity
HP:0030615Foveal photoreceptor outer segment loss on macular OCT
Периодический (5–29%)6
HP:0000533Chorioretinal atrophy
HP:0007814Retinal pigment epithelial mottling
HP:0007980Absent retinal pigment epithelium
HP:0011510Drusen
HP:0030491Choriocapillaris atrophy
HP:0030629Perifoveal ring of hyperautofluorescence
Очень редкий (1–4%)2
HP:0000662Nyctalopia
HP:0007641Dyschromatopsia
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 3.33 | France | Value and class |
| Point prevalence | 1-9 / 100 000 | — | Europe | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)