folkshÖgskolan sÖdertÄlje 25.10€¦ · optic neuritis (ms), tobacco-alcohol amblyopia,...
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FOLKSHÖGSKOLAN SÖDERTÄLJE
25.10.2013
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LEBER’S HEREDITARY OPTIC NEUROPATHY (LHON)
THOMAS ROSENBERG NATIONAL EYE CLINIC FOR THE VISUALLY IMPAIRED
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THEODOR KARL GUSTAV VON LEBER (1840-1917) GÖTTINGEN Über hereditäre und congenital angelegte Sehnervenleiden (1871)
JOURNAL 1874
NAVNET
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SYNSNERVEN ANGRIBES
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AKUT FASE 03.1993
KRONISK FASE 01.1994
HVAD SKER DER MED SYNET?
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ANDRE SYMPTOMER
NERVESYSTEM CENTRALT PERIFERT HJERTE
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ARVEFORHOLD TRE GÅDER
GÅDE NR. 1 SKÆV KØNSFORDELING
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GÅDE NR. 2 KVINDER FØRER ARVEANLÆGGET VIDERE TIL ALLE DERES BØRN, MÆND KAN IKKE VIDEREGIVE LHON
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GÅDE NR. 3
LHON RAMMER KUN NOGLE ARVEBÆRERE NEDSAT PENETRANS
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SLÆGTSFORSKER PÅ HÅRDT ARBEJDE
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ÅRSAG: MITOKONDRIEL ARV 1988: MITOKONDRIE MUTATION OG LØSNING PÅ GÅDE NR 3
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TRE HYPPIGE MTDNA MUTATIONER MEDFØRER NEDSAT PRODUKTION AF ENERGI (ATP)
ND1 ND4 (WALLACE) ND6
COMPLEX 1 NADH:UBIQUINON OXIDOREDUCTASE
CoQ10 IDEBENONE
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ATP PRODUKTION 75 KG/DØGN
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HVORDAN OPSTÅR LHON? OG HVORFOR UDVIKLER SYGDOMMEN SIG FORSKELLIGT FRA PERSON TIL PERSON?
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Diagnosis Clinical features Familial occurrence in maternally related lines Mutation analysis Differential diagnoses optic neuritis (MS), tobacco-alcohol amblyopia, neuroretinitis, intracranial pathology, dominant infantile optic atrophy, other hereditary optical neuropathies (Behr syndrome, X-linked spastic paraplegia, hereditary ataxia, Wolfram syndrome)
HETEROPLASMI
32% mutant DNA
75%
NYOPSTÅET MUTATION ?
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Diagnosis Clinical features Familial occurrence in maternally related lines Mutation analysis Differential diagnoses optic neuritis (MS), tobacco-alcohol amblyopia, neuroretinitis, intracranial pathology, dominant infantile optic atrophy, other hereditary optical neuropathies (Behr syndrome, X-linked spastic paraplegia, hereditary ataxia, Wolfram syndrome)
HAPLOTYPER - MTDNA VARIATIONER
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SYGDOMS MEKANISME
• ØGET ENERGIBEHOV VED SYGDOM OG ULYKKER • NEDSAT ATP PRODUKTION VED MILJØBELASTNING TOBAKSRYGNING!
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Diagnosis Clinical features Familial occurrence in maternally related lines Mutation analysis Differential diagnoses optic neuritis (MS), tobacco-alcohol amblyopia, neuroretinitis, intracranial pathology, dominant infantile optic atrophy, other hereditary optical neuropathies (Behr syndrome, X-linked spastic paraplegia, hereditary ataxia, Wolfram syndrome)
GENETISK RÅDGIVNING LIVSTIDS RISIKO MÆND 50% KVINDER 10%
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Diagnosis Clinical features Familial occurrence in maternally related lines Mutation analysis Differential diagnoses optic neuritis (MS), tobacco-alcohol amblyopia, neuroretinitis, intracranial pathology, dominant infantile optic atrophy, other hereditary optical neuropathies (Behr syndrome, X-linked spastic paraplegia, hereditary ataxia, Wolfram syndrome)
FOREKOMST (PRÆVALENS) DANMARK 2002: 113 PERSONER/34 FAMILIER
~ 2.1/100.000 ~ 1:47.500
2013 : 109 PERSONER/44 FAMILIER ~ 1,9/100.000 ~ 1:51.000
FINLAND ~ 1:50.000 NØ ENGLAND ~ 1:25.000
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Diagnosis Clinical features Familial occurrence in maternally related lines Mutation analysis Differential diagnoses optic neuritis (MS), tobacco-alcohol amblyopia, neuroretinitis, intracranial pathology, dominant infantile optic atrophy, other hereditary optical neuropathies (Behr syndrome, X-linked spastic paraplegia, hereditary ataxia, Wolfram syndrome)
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10
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0-4 5-9 10-14 15-19 20-24 25-29 30-34 35-39 40-44 45-49 50-54 55-59 60-64 65-69 70-74
%
Age at onset
Females
Males
DEBUTALDER
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Diagnosis Clinical features Familial occurrence in maternally related lines Mutation analysis Differential diagnoses optic neuritis (MS), tobacco-alcohol amblyopia, neuroretinitis, intracranial pathology, dominant infantile optic atrophy, other hereditary optical neuropathies (Behr syndrome, X-linked spastic paraplegia, hereditary ataxia, Wolfram syndrome)
MUTATIONS FORDELING PÅ FAMILIER 27 ND4/11778 (68%) 6 ND1/3460 (15%) 7 ND6/14484 (18%)
MUTATIONS FORDELING PÅ KØN 78 ND4 (63 M/15K) 16 ND1 (12M/ 4K) 10 ND6 ( 7M/ 3K)
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Diagnosis Clinical features Familial occurrence in maternally related lines Mutation analysis Differential diagnoses optic neuritis (MS), tobacco-alcohol amblyopia, neuroretinitis, intracranial pathology, dominant infantile optic atrophy, other hereditary optical neuropathies (Behr syndrome, X-linked spastic paraplegia, hereditary ataxia, Wolfram syndrome)
TAK FOR JERES INTERESSE
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