Ген	Полное название	Тип связи	Тип гена	OMIM
MFRP	membrane frizzled-related protein	Disease-causing germline mutation(s) in	gene with protein product	606227
TMEM98	transmembrane protein 98	Disease-causing germline mutation(s) in	gene with protein product	615949
OTX2	orthodenticle homeobox 2	Disease-causing germline mutation(s) in	gene with protein product	600037
SIX6	SIX homeobox 6	Candidate gene tested in	gene with protein product	606326
RAX	retina and anterior neural fold homeobox	Disease-causing germline mutation(s) in	gene with protein product	601881
ALDH1A3	aldehyde dehydrogenase 1 family member A3	Disease-causing germline mutation(s) in	gene with protein product	600463
PRSS56	serine protease 56	Disease-causing germline mutation(s) in	gene with protein product	613858
SOX2	SRY-box transcription factor 2	Disease-causing germline mutation(s) in	gene with protein product	184429
BEST1	bestrophin 1	Disease-causing germline mutation(s) in	gene with protein product	607854
CRB1	crumbs cell polarity complex component 1	Disease-causing germline mutation(s) in	gene with protein product	604210

Фенотипы (HPO)6

Очень частый (80–99%)5

HP:0000486Strabismus

HP:0000501Glaucoma

HP:0000568Microphthalmia

HP:0000610Abnormal choroid morphology

HP:0008499High hypermetropia

Периодический (5–29%)1

HP:0007703Abnormality of retinal pigmentation

Эпидемиология1

Тип оценки	Класс распространённости	Среднее (на 100к)	Регион	Квалификация
Point prevalence	Unknown	—	Worldwide	Class only

Источник: Open Targets Platform (в реальном времени)

Источник: ClinicalTrials.gov (в реальном времени)