Retinitis punctata albescens
ORPHA:52427DiseaseAutosomal dominant, Autosomal recessiveChildhood
Ассоциированные гены4
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| PRPH2 | peripherin 2 | Disease-causing germline mutation(s) in | gene with protein product | 179605 |
| RDH5 | retinol dehydrogenase 5 | Candidate gene tested in | gene with protein product | 601617 |
| RHO | rhodopsin | Candidate gene tested in | gene with protein product | 180380 |
| RLBP1 | retinaldehyde binding protein 1 | Disease-causing germline mutation(s) in | gene with protein product | 180090 |
Фенотипы (HPO)19
Очень частый (80–99%)5
HP:0000529Progressive visual loss
HP:0000662Nyctalopia
HP:0008323Abnormal light- and dark-adapted electroretinogram
HP:0030506Yellow/white lesions of the retina
HP:0030825Absent foveal reflex
Частый (30–79%)7
HP:0000603Central scotoma
HP:0000613Photophobia
HP:0007675Progressive night blindness
HP:0007814Retinal pigment epithelial mottling
HP:0007843Attenuation of retinal blood vessels
HP:0007987Progressive visual field defects
HP:0007994Peripheral visual field loss
Периодический (5–29%)6
HP:0001105Retinal atrophy
HP:0001142Lenticonus
HP:0007401Macular atrophy
HP:0008527Congenital sensorineural hearing impairment
HP:0011505Cystoid macular edema
HP:0031605Abnormality of fundus pigmentation
Очень редкий (1–4%)1
HP:0000580Pigmentary retinopathy
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.125 | Worldwide | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.175 | Europe | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)