Severe early-childhood-onset retinal dystrophy
ORPHA:364055DiseaseAutosomal recessiveChildhood, Infancy
Ассоциированные гены4
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| RPE65 | retinoid isomerohydrolase RPE65 | Disease-causing germline mutation(s) in | gene with protein product | 180069 |
| LCA5 | lebercilin LCA5 | Disease-causing germline mutation(s) in | gene with protein product | 611408 |
| LRAT | lecithin retinol acyltransferase | Disease-causing germline mutation(s) in | gene with protein product | 604863 |
| SPATA7 | spermatogenesis associated 7 | Disease-causing germline mutation(s) in | gene with protein product | 609868 |
Фенотипы (HPO)33
Частый (30–79%)16
HP:0000505Visual impairment
HP:0000546Retinal degeneration
HP:0000662Nyctalopia
HP:0000550Undetectable electroretinogram
HP:0000639Nystagmus
HP:0007695Abnormal pupillary light reflex
HP:0007994Peripheral visual field loss
HP:0000543Optic disc pallor
HP:0012426Optic disc drusen
HP:0007843Attenuation of retinal blood vessels
HP:0007703Abnormality of retinal pigmentation
HP:0001103Abnormal macular morphology
HP:0007814Retinal pigment epithelial mottling
HP:0007737Bone spicule pigmentation of the retina
HP:0000551Color vision defect
HP:0007663Reduced visual acuity
Периодический (5–29%)16
HP:0007722Retinal pigment epithelial atrophy
HP:0000622Blurred vision
HP:0011488Abnormal corneal endothelium morphology
HP:0011484Posterior synechiae of the anterior chamber
HP:0007787Posterior subcapsular cataract
HP:0001116Macular coloboma
HP:0000541Retinal detachment
HP:0012434Delayed social development
HP:0002172Postural instability
HP:0000613Photophobia
HP:0000577Exotropia
HP:0000545Myopia
HP:0000533Chorioretinal atrophy
HP:0002317Unsteady gait
HP:0011342Mild global developmental delay
HP:0007793Granular macular appearance
Очень редкий (1–4%)1
HP:0012230Rhegmatogenous retinal detachment
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)