Achromatopsia

ORPHA:49382DiseaseAutosomal recessiveInfancy, Neonatal

Ассоциированные гены7

Ген	Полное название	Тип связи	Тип гена	OMIM
PDE6C	phosphodiesterase 6C	Disease-causing germline mutation(s) in	gene with protein product	600827
RPGR	retinitis pigmentosa GTPase regulator	Candidate gene tested in	gene with protein product	312610
CNGA3	cyclic nucleotide gated channel subunit alpha 3	Disease-causing germline mutation(s) in	gene with protein product	600053
CNGB3	cyclic nucleotide gated channel subunit beta 3	Disease-causing germline mutation(s) in	gene with protein product	605080
PDE6H	phosphodiesterase 6H	Disease-causing germline mutation(s) in	gene with protein product	601190
GNAT2	G protein subunit alpha transducin 2	Disease-causing germline mutation(s) in	gene with protein product	139340
ATF6	activating transcription factor 6	Disease-causing germline mutation(s) (loss of function) in	gene with protein product	605537

Очень частый (80–99%)8

HP:0000539Abnormality of refraction

HP:0000551Color vision defect

HP:0000613Photophobia

HP:0007803Monochromacy

HP:0012043Pendular nystagmus

HP:0030465Undetectable light-adapted electroretinogram

HP:0030584Color vision test abnormality

HP:0030620Inner retinal layer loss on macular OCT

Частый (30–79%)6

HP:0000540Hypermetropia

HP:0000545Myopia

HP:0000603Central scotoma

HP:0007663Reduced visual acuity

HP:0007750Hypoplasia of the fovea

HP:0030825Absent foveal reflex

Периодический (5–29%)5

HP:0001103Abnormal macular morphology

HP:0007695Abnormal pupillary light reflex

HP:0007814Retinal pigment epithelial mottling

HP:0007843Attenuation of retinal blood vessels

HP:0025549Eccentric visual fixation

Очень редкий (1–4%)1

HP:0007722Retinal pigment epithelial atrophy

Тип оценки	Класс распространённости	Среднее (на 100к)	Регион	Квалификация
Point prevalence	1-9 / 100 000	2.7	Worldwide	Value and class

Источник: Open Targets Platform (в реальном времени)

Источник: ClinicalTrials.gov (в реальном времени)