Stargardt disease
ORPHA:827DiseaseAutosomal dominant, Autosomal recessiveAdolescent, Adult, Childhood, Elderly
Ассоциированные гены5
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| CNGB3 | cyclic nucleotide gated channel subunit beta 3 | Candidate gene tested in | gene with protein product | 605080 |
| PRPH2 | peripherin 2 | Candidate gene tested in | gene with protein product | 179605 |
| ABCA4 | ATP binding cassette subfamily A member 4 | Disease-causing germline mutation(s) in | gene with protein product | 601691 |
| ELOVL4 | ELOVL fatty acid elongase 4 | Disease-causing germline mutation(s) in | gene with protein product | 605512 |
| PROM1 | prominin 1 | Disease-causing germline mutation(s) in | gene with protein product | 604365 |
Фенотипы (HPO)16
Облигатный (100%)1
HP:0007663Reduced visual acuity
Очень частый (80–99%)12
HP:0000493Abnormal foveal morphology
HP:0000551Color vision defect
HP:0000603Central scotoma
HP:0000608Macular degeneration
HP:0000610Abnormal choroid morphology
HP:0000649Abnormality of visual evoked potentials
HP:0000662Nyctalopia
HP:0007704Paroxysmal involuntary eye movements
HP:0007722Retinal pigment epithelial atrophy
HP:0007814Retinal pigment epithelial mottling
HP:0008002Abnormality of macular pigmentation
HP:0030329Retinal thinning
Частый (30–79%)3
HP:0008059Aplasia/Hypoplasia of the macula
HP:0030500Yellow/white lesions of the macula
HP:0030786Photopsia
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-5 / 10 000 | 13 | Europe | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)