Diko : en:colobomatous macular lesions (in some patients)

en:colobomatous macular lesions (in some patients)

Catégories

Nom

Informations lexicales

Langue:anglais

Liens externes

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umls:C4231530

Associations d'idées

[F]

›

50+

en:unilateral (right eye) involvement

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en:no cherry red spots

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en:retinal dystrophy (rods and cones affected), early onset

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en:chorioretinal atrophic lacunae

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en:digitoocular sign of franceschetti

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en:exotropia (in some patients)

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en:frontalis overaction, pronounced

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en:mesodermal iris dysgenesis (in some patients)

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en:mildly reduced visual acuity

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en:downslanting palpebral fissures (patient a)

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en:poorly developed crypts

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en:avascular conjunctival cystic elevations (filtering blebs)

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

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en:eyelid myoclonus

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en:lens dislocation

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en:myopia (in brother)

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en:pigment dispersion with ocular hypertension or glaucoma

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en:pupillary reflex sluggish

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en:absent retinal pigment

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en:reduced upgaze

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en:vitreous degeneration (rare)

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en:visual loss, progressive (in most patients)

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en:uncontrolled eye movements

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en:stellate cataract

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en:corneal rupture

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en:pigmentary changes, retinal and/or subretinal (in some patients)

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en:oculomotor apraxia (56% of patients)

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en:epicanthic folds (in some patients)

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en:dystrophy does not recur after penetrating keratoplasty

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en:congenital eye disorder

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en:age related macular degeneration

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en:abnormality of the optic disc

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en:congenital cataract (1 patient)

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en:bilateral ptosis

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en:miosis (1 family)

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en:tesselated appearance of fundus (in some patients)

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en:cataract, zonular central nuclear

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en:oculogyric crises (patient b)

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en:o/e - lens normal

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en:normal or reduced responses on electroretinography

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en:small orbits

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en:large eyebrows

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en:epiretinal membrane

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en:decreased night vision (1 family)

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en:corneal dystrophy (onset early in childhood)

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en:cataracts, crenated

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en:ergs completely extinguished

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en:iris color blue to brown

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en:perimacular hyperautofluorescence

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en:oculopalpebral synechia

▶

‹

50+

en:acanthosis

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acanthosis

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en:electronegative scotopic waveform response to bright flashes on erg

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en:malformed eye

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

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en:displacement of external limiting membrane on oct

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en:peripapillary pigmentary changes (in some patients)

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en:severely attenuated vessels

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sclérocornée

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

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en:retinitis pigmentosa, progressive

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en:sclerocornea

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en:cysts in inner nuclear layer on oct

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en:thickening of non-banded zone of descemet membrane

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en:anterior and posterior corneal backscatter

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en:peripapillary chorioretinal changes or atrophy

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en:peripheral scotomata (late onset)

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en:glare sensitivity or photoaversion

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

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en:exophoria and/or exotropia

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

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en:reduced number of endothelial cells of posterior cornea

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en:irregular pigmentation in macular area

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en:undetectable responses on electroretinography

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en:absent photoreceptor layer outside the macular region on oct

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en:bone-spicule pigmentation (in some patients)

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en:goniodysgenesis (in some patients)

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en:miosis (1 family)

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en:chorioretinal atrophy (in some patients)

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en:thinning of cornea (in some patients)

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en:no purposeful eye movements (patient b)

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en:ergs completely extinguished

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en:bone spicules in peripheral fundus

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en:pigment granularity of peripheral retina

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en:relative central scotoma on kinetic field testing, progressive

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en:attenuated vessels, mild to moderate

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en:disciform scars in macula (in some patients)

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en:enlarged optic nerve head (in some patients)

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en:straight eyebrows (20%)

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en:salzmann degeneration

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en:angioid streaks (in some patients)

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hyperacanthose

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en:visual field defects (rare)

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acanthose

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en:searching nystagmus

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en:macular hemorrhage (in some patients)

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

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en:reduced cone responses on electroretinography (erg)

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en:congenital cataract, total (in some patients)

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en:decreased vision (in most patients)

▶

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

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=9094876 • caches: c1=12 c2=196 c3=3643

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