Familial drusen
ORPHA:75376DiseaseAutosomal dominantAdult
Ассоциированные гены3
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| CFI | complement factor I | Disease-causing germline mutation(s) in | gene with protein product | 217030 |
| CFH | complement factor H | Disease-causing germline mutation(s) in | gene with protein product | 134370 |
| EFEMP1 | EGF-like fibulin extracellular matrix protein 1 | Disease-causing germline mutation(s) in | gene with protein product | 601548 |
Фенотипы (HPO)20
Облигатный (100%)2
HP:0030499Macular drusen
HP:0030500Yellow/white lesions of the macula
Очень частый (80–99%)3
HP:0000572Visual loss
HP:0007754Macular dystrophy
HP:0007937Reticular pigmentary degeneration
Частый (30–79%)6
HP:0007703Abnormality of retinal pigmentation
HP:0011509Macular hyperpigmentation
HP:0012508Metamorphopsia
HP:0030629Perifoveal ring of hyperautofluorescence
HP:0030631Hyperautofluorescent macular lesion
HP:0030632Hypoautofluorescent macular lesion
Периодический (5–29%)9
HP:0000613Photophobia
HP:0007401Macular atrophy
HP:0007793Granular macular appearance
HP:0007950Peripapillary chorioretinal atrophy
HP:0011506Choroidal neovascularization
HP:0012231Exudative retinal detachment
HP:0025574Macular hemorrhage
HP:0030528Paracentral scotoma
HP:0031526Subretinal fluid
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)