Diko : en:no recordable cone function

en:no recordable cone function

Catégories

Nom

Informations lexicales

Langue:anglais

Informations sémantiques

source:wiki

Liens externes

›

umls:C4229716

Associations d'idées

[F]

›

en:no

•

en:central scotoma (rare)

•

en:attenuated vessels, mild to moderate

•

en:decreased vision (in most patients)

•

en:disciform scars in macula (in some patients)

•

en:deposits above the rpe on spectral-domain optical coherence tomography

•

en:atrophy of retinal pigmented epithelium (rpe)

•

en:ergs completely extinguished

•

en:cataract, congenital, severe

•

en:microphthalmia (family a)

•

en:'starry sky' staining of basal laminar drusen on fluorescein angiography

•

en:glare sensitivity or photoaversion

•

en:coloboma of iris, retina, and optic nerve (rare)

•

en:enlarged optic nerve head (in some patients)

•

en:exophoria and/or exotropia

•

en:peripapillary pigmentary changes (in some patients)

•

en:peripapillary chorioretinal changes or atrophy

•

en:goniodysgenesis (in some patients)

•

en:displacement of external limiting membrane on oct

•

en:no purposeful eye movements (patient b)

•

en:marked reduction in thickness of inner nuclear layer on oct

•

en:macular atrophy, progressive

•

en:atrophy of macular retinal pigment epithelium on spectral-domain optical coherence tomography

•

en:relative central scotoma on kinetic field testing, progressive

•

en:pigment granularity of peripheral retina

•

en:decreased peripheral visual

•

en:electronegative scotopic waveform response to bright flashes on erg

•

en:optic pit (rare)

•

en:perivascular pigment accumulation

•

en:waxy disc pallor

•

en:cysts in inner nuclear layer on oct

•

en:reduced average cone density in the macular and paramacular area on adaptive optics scanning light ophthalmoscopy

•

en:reduced or absent foveal reflex

•

en:blue sclerae (patient b)

•

en:absence of hexagonal endothelial cell pattern in zone of specular reflection

•

en:blurring of fundus due to vitreous condensations

•

en:colobomatous macular lesions (in some patients)

•

en:bone spicule-like pigmentation in peripheral retina (in some patients)

•

en:bone spicules in peripheral fundus

•

en:optic nerve hypoplasia (in patient a)

•

en:reduced number of endothelial cells of posterior cornea

•

acanthosis

•

en:abnormal color vision (in some patients)

•

en:absent photoreceptor layer outside the macular region on oct

•

en:thinning of fovea on optical coherence tomography (oct)

•

en:retinitis pigmentosa, progressive

•

en:anterior and posterior corneal backscatter

•

en:macular hemorrhage (in some patients)

•

en:sclerocornea

•

en:bone-spicule pigmentation (in some patients)

•

en:acanthosis

•

en:undetectable responses on electroretinography

•

en:disorganization of photoreceptor layer outside the macular area

•

en:searching nystagmus

•

en:small palpebral fissures (jbts)

•

sclérocornée

•

hyperacanthose

•

en:bone-spicule pattern of pigmentary deposits in retinal midperiphery

•

en:bone-spicule-like pigmentary changes

•

en:angioid streaks (in some patients)

•

en:miosis (1 family)

•

en:bluish sclerae (in some patients)

•

en:thinning of cornea (in some patients)

•

en:congenital cataract, total (in some patients)

•

en:prominent eyes (in some patients)

•

en:reduced cone responses on electroretinography (erg)

•

en:straight eyebrows (20%)

•

en:poorly delineated photoreceptor layer on oct

•

en:irregular pigmentation in macular area

•

en:night vision blindness

•

en:visual field defects (rare)

•

en:chorioretinal atrophy (in some patients)

•

en:white to slightly gray sclerae

•

en:early onset of age-related macular degeneration (rare)

•

en:malformed eye

•

en:severely attenuated vessels

•

en:thickening of non-banded zone of descemet membrane

•

en:leaky dilated capillaries on fluorescein angiography

•

en:salzmann degeneration

•

en:late hyperfluorescence on fluorescein angiography, attributed to choroidal neovascularization

•

en:peripheral scotomata (late onset)

◀

‹

en:angioid streaks (in some patients)

•

en:acanthosis

•

en:bone-spicule pigmentation (in some patients)

•

hyperacanthose

•

en:thinning of cornea (in some patients)

•

en:white to slightly gray sclerae

•

acanthosis

•

en:perivascular pigment accumulation

•

en:visual field defects (rare)

•

en:miosis (1 family)

•

en:bone-spicule pattern of pigmentary deposits in retinal midperiphery

•

en:bone spicule-like pigmentation in peripheral retina (in some patients)

•

en:severely attenuated vessels

•

en:peripapillary pigmentary changes (in some patients)

•

en:coloboma of iris, retina, and optic nerve (rare)

•

sclérocornée

•

en:sclerocornea

•

en:macular hemorrhage (in some patients)

•

en:bluish sclerae (in some patients)

•

en:cataract, congenital, severe

•

en:decreased vision (in most patients)

•

en:no purposeful eye movements (patient b)

•

en:blue sclerae (patient b)

•

en:macular atrophy, progressive

•

en:bone-spicule-like pigmentary changes

•

en:disorganization of photoreceptor layer outside the macular area

•

en:retinitis pigmentosa, progressive

•

en:undetectable responses on electroretinography

•

en:late hyperfluorescence on fluorescein angiography, attributed to choroidal neovascularization

•

en:irregular pigmentation in macular area

•

en:night vision blindness

•

en:reduced number of endothelial cells of posterior cornea

•

en:exophoria and/or exotropia

•

en:blurring of fundus due to vitreous condensations

•

en:waxy disc pallor

•

en:peripheral scotomata (late onset)

•

en:salzmann degeneration

•

en:straight eyebrows (20%)

•

en:congenital cataract, total (in some patients)

•

en:optic nerve hypoplasia (in patient a)

•

en:enlarged optic nerve head (in some patients)

•

en:glare sensitivity or photoaversion

•

en:electronegative scotopic waveform response to bright flashes on erg

•

en:relative central scotoma on kinetic field testing, progressive

•

en:attenuated vessels, mild to moderate

•

en:'starry sky' staining of basal laminar drusen on fluorescein angiography

•

en:displacement of external limiting membrane on oct

•

en:optic pit (rare)

•

en:reduced or absent foveal reflex

•

en:absence of hexagonal endothelial cell pattern in zone of specular reflection

•

en:goniodysgenesis (in some patients)

•

en:malformed eye

•

en:leaky dilated capillaries on fluorescein angiography

•

en:absent photoreceptor layer outside the macular region on oct

•

en:anterior and posterior corneal backscatter

•

en:abnormal color vision (in some patients)

•

en:bone spicules in peripheral fundus

•

en:peripapillary chorioretinal changes or atrophy

•

en:thinning of fovea on optical coherence tomography (oct)

•

en:thickening of non-banded zone of descemet membrane

•

en:poorly delineated photoreceptor layer on oct

•

en:ergs completely extinguished

•

en:disciform scars in macula (in some patients)

•

en:cysts in inner nuclear layer on oct

•

en:atrophy of retinal pigmented epithelium (rpe)

•

en:deposits above the rpe on spectral-domain optical coherence tomography

•

en:prominent eyes (in some patients)

•

en:early onset of age-related macular degeneration (rare)

•

en:small palpebral fissures (jbts)

•

en:microphthalmia (family a)

•

en:chorioretinal atrophy (in some patients)

•

en:reduced cone responses on electroretinography (erg)

•

en:marked reduction in thickness of inner nuclear layer on oct

•

en:colobomatous macular lesions (in some patients)

•

en:central scotoma (rare)

•

en:reduced average cone density in the macular and paramacular area on adaptive optics scanning light ophthalmoscopy

•

en:decreased peripheral visual

•

en:pigment granularity of peripheral retina

•

en:atrophy of macular retinal pigment epithelium on spectral-domain optical coherence tomography

•

en:searching nystagmus

•

acanthose

•

hyodésoxycholique (acide)

•

en:hyperacanthosis

•

absence de couche de photorécepteurs en dehors de la région maculaire sur l'OCT

◀

Génériques

[F] [H]

›

en:no

• Mathieu Lafourcade • LIRMM (données libres en Creative Commons) •

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=9095514 • caches: c1=164 c2=833 c3=373

....

♥

po

la

ti

le

as

ku

co

lo

to

ta

ta

xe

po

li

?!

!?

[Vider le cache]

A propos

Champs masqués