degenerescenta maculara juvenila
TRANSCRIPT
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DEGENERESCENTA
MACULARA
JUVENILA
Dr Dragomir Ana-Maria
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BOLI DEGENERATIVE RETINIENE:
Retinopatia pigmentara- afectare vederenocturna+ vedere periferica
Degenerescentele maculare- afectare vederecentrala
b. Stargardt
b. Best= distrofia viteliforma
drusenul familial
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BOALA STARGARDT
Dr Karl Stargardt a descris prima data boala ereditara in 1!
"ea mai comuna distrofie maculara #uvenila mostenita
- debut in copilarie clinic in viata adulta
transmitere A$%!&'- gena AB"A( cr ) disfunctia pompei moleculare pt vit A=
acumulare de lipofuscina% vit A-dimeri' cu penetrarea si li*a ,$
atrofie maculara
11! !!! %-1!& din distrofiile retiniene'
- b genetica/ mostenita sfat genetic
- e0punere 2 % accelerea*a boala'
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BOALA STARGARDT3riada clinica4
- atrofie maculara
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drusene
- 5coroida
intunecata6
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PREZENTARE DE CAZ
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CAZ CLINIC:
B D ! "# ani Timisoara
M.7. - 8 A2 la A9
- valori tensionale oculare crescute
A:" ; nesemnificative
A,, - disc
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7storic4
,acienta afirma o scadere a A2 inadolescenta% liceu'/ fara sa consulte un medic
specialist. 7n anii de facultate % >?->( de ani' la un
consult de rutina i se stabileste diagnosticul de
Maladie Stargardt/ afirmativ pacienta relatea*a case descurca in limite acceptabile in viata de *i cu *i.
rmea*a o perioada de apro0imativ >! de ani in
care pacienta nu mai consulta niciun medic si A2
scade/ afirmativ/ brusc in ultimii ?-( ani.
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)AM@ 93AM99C7"
2A9= !/1 fc nc
3od= >! mm1 mm1!/ *ona
degenerativa maculara policliclica
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7nvestigatii paraclinice4
"2 Colmann
"2 computeri*at
"urbe tonometrice ; in limite normale % 1-1
mm
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DIAGNOSTIC POZITIV
$ala%ia Stargar%t
undus flavimaculatus
Boala Best = Distrofia viteliforma
$etinosc
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B Stargardt &un%us'la(imaculatus
MaladiaLeventinese
B Best Retinopatiapigmentara
Retinoschisis juvenil
Cea mai'rec(entaTransmiteregenetica RA
)e%ereascotopica estemult timppastrata
)arianta a *oliiStargar%t
Boala cutransmiteregenetica DA
Boala cutransmiteregenetica DA
Boala cutransmiteregenetica DA
+ )e%erea laintuneric estea'ectata, pastrarea(e%erii centralemult timp
Boala cu transmiteregenetica -+lin.ata Inspecial la *aieti
&O+ %rusene%ispuse inmacula siperimacular
&O+ %rusene%ispuse inmacula siraspan%ite si inretina peri'erica
&O+ macula cu%rusene %ispusera%iarPeri'eria 'ara le/iuni
&O+ macula cuaspect %egal*enus %eou
&O+ %ispersie %epigment pe toatasupra'ata retinei
&O+ %ecolare %eretina, 0 1emoragii(itreene
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Boala Stargardt Boala Best Retinoschisisul juvenil
AFG
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Stadiu de cercetare
TRATAMENT
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VA MULTUMESC !