Cerebral visual impairment
ORPHA:447788Clinical syndromeNot applicableInfancy, Neonatal
Фенотипы (HPO)41
Частый (30–79%)6
HP:0002500Abnormal cerebral white matter morphology
HP:0100021Cerebral palsy
HP:0010794Impaired visuospatial constructive cognition
HP:0001249Intellectual disability
HP:0001622Premature birth
HP:0410263Brain imaging abnormality
Периодический (5–29%)35
HP:0002060Abnormal cerebral morphology
HP:0000238Hydrocephalus
HP:0011450Unusual CNS infection
HP:0001250Seizure
HP:0025315Exacerbated by head trauma
HP:0002180Neurodegeneration
HP:0000252Microcephaly
HP:0007009Central nervous system degeneration
HP:0000486Strabismus
HP:0000539Abnormality of refraction
HP:0000639Nystagmus
HP:0012796Increased cup-to-disc ratio
HP:0000543Optic disc pallor
HP:0001141Severely reduced visual acuity
HP:0025405Visual fixation instability
HP:0007772Impaired smooth pursuit
HP:0001123Visual field defect
HP:0000736Short attention span
HP:0007018Attention deficit hyperactivity disorder
HP:0000729Autistic behavior
HP:0002312Clumsiness
HP:0000496Abnormality of eye movement
HP:0002140Ischemic stroke
HP:0001998Neonatal hypoglycemia
HP:0002170Intracranial hemorrhage
HP:0032046Focal cortical dysplasia
HP:0001287Meningitis
HP:0002383Infectious encephalitis
HP:0012443Abnormality of brain morphology
HP:0030800Abnormal visual accommodation
HP:0500049Retinopathy of prematurity
HP:0000609Optic nerve hypoplasia
HP:0000648Optic atrophy
HP:0000641Dysmetric saccades
HP:0000657Oculomotor apraxia
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)