Tunnused

Geeniga PRPH2 seotud tunnused

peripherin 2

Inimese fenotüübi ontoloogia seostab geeniga PRPH2 116 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.

Abnormality of the eye

Tunnus	Kui sageli seda täheldatakse
Decreased clarity of vision	Alati
Metamorphopsia	Alati
Pattern dystrophy of the retina	Alati
Visual impairment	Alati
Vitelliform macular lesion	Alati
Abnormal choroid morphology	Väga sageli (80–99%)
Abnormal color vision	Väga sageli (80–99%)
Abnormal electroretinogram	Väga sageli (80–99%)
Abnormal foveal morphology	Väga sageli (80–99%)
Abnormal light- and dark-adapted electroretinogram	Väga sageli (80–99%)
Abnormal macular pigmentation	Väga sageli (80–99%)
Abnormal optic disc morphology	Väga sageli (80–99%)
Abnormal retinal pigmentation	Väga sageli (80–99%)
Abnormality of the eye	Väga sageli (80–99%)
Abnormality of vision	Väga sageli (80–99%)
Abnormality of visual evoked potentials	Väga sageli (80–99%)
Absent foveal reflex	Väga sageli (80–99%)
Blind spot located at fixation point	Väga sageli (80–99%)
Blindness	Väga sageli (80–99%)
Difficulties with night vision	Väga sageli (80–99%)
Extreme sensitivity of the eyes to light	Väga sageli (80–99%)
Full-thickness macular hole	Väga sageli (80–99%)
Hyperautofluorescent macular lesion	Väga sageli (80–99%)
Involuntary, rapid, rhythmic eye movements	Väga sageli (80–99%)
Macular degeneration	Väga sageli (80–99%)
Marked vision impairment	Väga sageli (80–99%)
Optic atrophy	Väga sageli (80–99%)
Paroxysmal involuntary eye movements	Väga sageli (80–99%)
Progressive loss of vision	Väga sageli (80–99%)
Progressive night blindness	Väga sageli (80–99%)
Retina degeneration	Väga sageli (80–99%)
Retinal pigment epithelial atrophy	Väga sageli (80–99%)
Retinal pigment epithelial mottling	Väga sageli (80–99%)
Retinal thinning	Väga sageli (80–99%)
Spicular pigmentation of the retina	Väga sageli (80–99%)
Yellow/white retinal lesion	Väga sageli (80–99%)
Abnormal central response of multifocal electroretinogram	Sageli (30–79%)
Abnormal full-field electroretinogram	Sageli (30–79%)
Abnormal macular morphology	Sageli (30–79%)
Abnormal pupillary light reflex	Sageli (30–79%)
Aplasia/Hypoplasia of the macula	Sageli (30–79%)
Bulging cornea	Sageli (30–79%)
Chorioretinal scalloped atrophy	Sageli (30–79%)
Clouding of the lens of the eye	Sageli (30–79%)
Color blindness	Sageli (30–79%)
Cystoid macular edema	Sageli (30–79%)
Dark choroid	Sageli (30–79%)
Eye muscle paralysis	Sageli (30–79%)
Farsightedness	Sageli (30–79%)
Foveal photoreceptor outer segment loss on macular OCT	Sageli (30–79%)
Fundus hypopigmentation	Sageli (30–79%)
Glaucoma	Sageli (30–79%)
Light eye color	Sageli (30–79%)
Loss of peripheral vision	Sageli (30–79%)
Macular atrophy	Sageli (30–79%)
Optic disc drusen	Sageli (30–79%)
Optic disc pallor	Sageli (30–79%)
Partial loss of field of vision	Sageli (30–79%)
Photopsia	Sageli (30–79%)
Photoreceptor outer segment loss on macular OCT	Sageli (30–79%)
Posterior subcapsular cataract	Sageli (30–79%)
Progressive visual field defects	Sageli (30–79%)
Retinal atrophy	Sageli (30–79%)
Slow decrease in sharpness of vision	Sageli (30–79%)
Slow pupillary light response	Sageli (30–79%)
Undetectable electroretinogram	Sageli (30–79%)
Visual loss	Sageli (30–79%)
Yellow/white macular lesion	Sageli (30–79%)
Abnormal corneal endothelium morphology	Mõnikord (5–29%)
Abnormal fundus pigmentation	Mõnikord (5–29%)
Absent retinal pigment epithelium	Mõnikord (5–29%)
Blurred vision	Mõnikord (5–29%)
Choriocapillaris atrophy	Mõnikord (5–29%)
Chorioretinal atrophy	Mõnikord (5–29%)
Close sighted	Mõnikord (5–29%)
Drusen	Mõnikord (5–29%)
Granular macular appearance	Mõnikord (5–29%)
Lenticonus	Mõnikord (5–29%)
Macular pseudocoloboma	Mõnikord (5–29%)
Outward facing eye ball	Mõnikord (5–29%)
Perifoveal ring of hyperautofluorescence	Mõnikord (5–29%)
Posterior synechiae of the anterior chamber	Mõnikord (5–29%)
Retinal detachment	Mõnikord (5–29%)
Retinal nonattachment	Mõnikord (5–29%)
Choroidal neovascularization	Harva (1–4%)
Pigmentary retinopathy	Harva (1–4%)
Rhegmatogenous retinal detachment	Harva (1–4%)
Adult-onset night blindness	Pole registreeritud
Fundus albipunctatus	Pole registreeritud
Limited peripheral vision	Pole registreeritud
Macular dystrophy	Pole registreeritud
Reticular retinal dystrophy	Pole registreeritud
Retinal flecks	Pole registreeritud
Rod-cone dystrophy	Pole registreeritud

Abnormality of the nervous system

Tunnus	Kui sageli seda täheldatakse
Abnormality of neuronal migration	Sageli (30–79%)
Aplasia/Hypoplasia of the cerebellar vermis	Sageli (30–79%)
Epilepsy	Sageli (30–79%)
Eye poking	Sageli (30–79%)
Paralysis or weakness of one side of body	Sageli (30–79%)
Autism spectrum disorder	Mõnikord (5–29%)
Balance impairment	Mõnikord (5–29%)
Delayed social development	Mõnikord (5–29%)
Global developmental delay	Mõnikord (5–29%)
Intellectual disability	Mõnikord (5–29%)
Mild global developmental delay	Mõnikord (5–29%)
Motor delay	Mõnikord (5–29%)
Unsteady walk	Mõnikord (5–29%)

Abnormality of the ear

Tunnus	Kui sageli seda täheldatakse
Conductive deafness	Väga sageli (80–99%)
Sensorineural hearing impairment	Väga sageli (80–99%)
Congenital sensorineural hearing impairment	Mõnikord (5–29%)
Hearing impairment	Mõnikord (5–29%)

Abnormality of the cardiovascular system

Tunnus	Kui sageli seda täheldatakse
Abnormality of retina blood vessels	Väga sageli (80–99%)
Narrowing of blood vessels in back of eye	Sageli (30–79%)

Abnormality of head or neck

Tunnus	Kui sageli seda täheldatakse
Encephalocele	Sageli (30–79%)

Abnormality of the musculoskeletal system

Tunnus	Kui sageli seda täheldatakse
Low muscle tone	Sageli (30–79%)

Laboratory abnormality

Tunnus	Kui sageli seda täheldatakse
Hyperinsulinemia	Sageli (30–79%)

Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.

Allikas

Inimese fenotüübi ontoloogia, versioon 2026-09-01: geeniga PRPH2 seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.

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