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Qaagi - Book of Why

Causes

Effects

ABCA4 mutationscan causeStargardt disease or cone - rod dystrophy

by mutations in the gene(passive) caused bya canine model of cone - rod dystrophy

by mutations in mutations(passive) caused bycone - rod dystrophy ( CRD ) cases

by mutations in RAB28 , a recently discovered gene associated with CRD(passive) caused bycone - rod dystrophy CRD cases

mutations in several different genes that can be inherited(passive) caused byover 30 types of cone - rod dystrophy

by novel GUCY2D mutations(passive) caused byautosomal dominant cone - rod dystrophy

by a novel mutation ( D100 G ) in the GUCA1A gene(passive) caused byautosomal dominant cone - rod dystrophy

Mutationscauseautosomal dominant cone - rod dystrophy

a mutation in the CACNA1F gene(passive) is caused byX - linked cone - rod dystrophy , CORDX3

Disruption of the basal body protein POC1Bresultsin autosomal - recessive cone - rod dystrophy

Molecular pathology Defects of ABCA4 , which encodes an ABC transporter that is expressed exclusively in retina photoreceptor cellscausecone - rod dystrophy 3

by a mutation in an RP - associated gene(passive) caused bya cone - rod phenotype

a mutation in the CACNA1F(passive) is caused bycone - rod dystrophy , CORDX3

by a mutation in the nphp4 gene(passive) caused byearly onset cone - rod dystrophy

Mutations in the RP1 Gene(passive) Caused byMacular Dystrophy and Cone - Rod Dystrophy

by Mutations(passive) Caused byMacular Dystrophy and Cone - Rod Dystrophy

ABCA4 mutationsalso can leadto cone - rod dystrophy ( CRD

by a novel CRX mutation(passive) caused byan autosomal cone - rod dystrophy

a novel CRX mutation(passive) caused byan autosomal cone - rod dystrophy

Functional Analysis of Missense Mutations in Kv8.2CausingCone Dystrophy with Supernormal Rod Electroretinogram

Functional analysis of missense mutations in Kv8.2causingcone dystrophy with supernormal rod electroretinogram .

Functional analysis of missense mutations in Kv8.2causingcone dystrophy with supernormal rod electroretinogram .

2012) Functional analysis of missense mutations in Kv8.2causingcone dystrophy with supernormal rod electroretinogram

knownto causecone - rod degeneration

mutations in the CRX genecausecone - rod dystrophy

mutations in the RETGC-1 genecan leadto cone - rod dystrophy

the gene mutationcausingrod - cone degeneration

a mutation in the CACNA1F gene(passive) is caused bycone - rod dystrophy , CORDX3

by a mutation in the CACNA1F gene(passive) is caused bycone - rod dystrophy , CORDX3

by mutations in the RP1 gene(passive) caused bycone - rod dystrophy

Mutations in ABCA4also resultin cone - rod dystrophy

by mutations in (passive) caused bycone - rod dystrophy

by mutation in ABCA4(passive) caused bycone - rod dystrophy

by mutation in CRX(passive) caused bycone - rod dystrophy

by mutation in RLBP1(passive) caused bycone - rod dystrophy

by POC1B mutation(passive) caused bycone - rod dystrophy

The R172W mutation in peripherin / rdscausesa cone - rod dystrophy

by splice site mutations in the Stargardt 's disease gene(passive) caused bycone - rod dystrophy

degeneration of photoreceptor cells in the retinaresultingin cone - rod dystrophy

by pathogenic variants in the ALMS1 gene(passive) caused bycone - rod dystrophy

gradual loss of vision due to retinal deteriorationcausegradual loss of vision due to retinal deterioration

vision loss , which becomes more severe over timecausesvision loss , which becomes more severe over time

light - sensing cells in the retina ( the back part of the eyecauseslight - sensing cells in the retina ( the back part of the eye

night blindnesscausesnight blindness

to early impairment of visioncharacteristically leadsto early impairment of vision

day - blindnesscausesday - blindness

to early impairment of visioncharacteristically leadsto early impairment of vision

the progressive visual loss(passive) caused bythe progressive visual loss

to blindnesswould leadto blindness

to blindnessleadsto blindness

to some ganglion cells excitatory to others inhibitorycan contributeto some ganglion cells excitatory to others inhibitory

to early impairment of visioncharacteristically leadsto early impairment of vision

to blindnessleadingto blindness

deterioration of the retinacausesdeterioration of the retina

in complete blindnessresultsin complete blindness

to early impairment of visioncharacteristically leadsto early impairment of vision

in blindnessmay resultin blindness

what changes to an ERGwill causewhat changes to an ERG

to a progressive loss of vision and night blindnessusually leadingto a progressive loss of vision and night blindness

deterioration of the cone and rod photoreceptor cells in the retinacausesdeterioration of the cone and rod photoreceptor cells in the retina

from a primary loss of cone photoreceptors , followed by loss of rodsresultsfrom a primary loss of cone photoreceptors , followed by loss of rods

from a primary loss of cone photoreceptors , followed by a loss of rodsresultsfrom a primary loss of cone photoreceptors , followed by a loss of rods

cone dysfunction / losscausecone dysfunction / loss

in blindnessresultingin blindness

to blindnessleadsto blindness

color perceptionwill influencecolor perception

from a primary loss of rod photoreceptors , followed by loss of conesresultsfrom a primary loss of rod photoreceptors , followed by loss of cones

to blindness or visual impairmentleadsto blindness or visual impairment

from a primary loss of rod photoreceptorsresultsfrom a primary loss of rod photoreceptors

blindness orcausingblindness or

the loss of peripheral visioncausingthe loss of peripheral vision

nystagmus ] ] ... [ [ blindness(passive) caused bynystagmus ] ] ... [ [ blindness

the light - receptive cells in his eyes to diecausesthe light - receptive cells in his eyes to die

1causes1

visual impairment(passive) caused byvisual impairment

Visual impairment(passive) caused byVisual impairment

to eventualleadingto eventual

sight to deteriorate slowly over timecausessight to deteriorate slowly over time

poor visioncausespoor vision

extreme light sensitivitycausesextreme light sensitivity

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