Hereditary Retinal Diseases Introduction and update - - PowerPoint PPT Presentation

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Hereditary Retinal Diseases Introduction and update - - PowerPoint PPT Presentation

Oct 06, 2022 226 likes •954 views

Hereditary Retinal Diseases Introduction and update !"#"$%&'()*+(),-./&01& 2)3,%&'4)+"%#"565&.7&8"+("9%,&

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SLIDE 1

Hereditary Retinal Diseases Introduction and update

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SLIDE 2

Objectives

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SLIDE 3

Inherited retinal diseases

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slide-4
SLIDE 4

Cone Dysfunction Syndromes

  • Achromatopsia
  • Oligocone Trichromacy
  • Blue cone monochromacy
  • Enhanced S-cone syndrome

Rod Dysfunction Syndromes

  • Congenital Stationary Night Blindness

X-Linked Complete CSNB Incomplete CSNB Autosomal Dominant RHO,GNAT1, PDE6B Autosomal Recessive GRM6, TRPM1, LRIT1

  • Fundus albipunctatus (RDH5)
  • Oguchi Disease (ARR, GRK1)

X-linked Retinoschisis Fleck Dystrophies

  • Benign Familial Fleck
  • Retinitis Punctata Albescens
  • Alport

Retinal Degenerations/Dystrophies

Retinitis Pigmentosa

Nonsyndromic RP

  • Rod-cone dystrophies
  • Cone-rod dystrophies
  • Cone dystrophies

Leber’s Congential Amaurosis SECORD/Juvenile RP X-Linked RP AR RP AD RP

Syndromic RP

Ciliopathies

  • Usher's syndrome
  • Bardet – Beidl Syndrome
  • Joubert Syndrome
  • Senior Loken Syndrome
  • Alstrom Syndrome

Mitochondrial (Kearns-Sayre) Peroxisomal (Zellweger, Refsum)

Choroidal Degenerations

Choroderemia Gyrate Atrophy Bietti Crystalline Dystrophy Late Onset Retinal Dystrophy

Macular Degenerations/ Dystrophies

North Carolina Macular Dystrophy Isolated Foveal Hypoplasia Albinism

  • Oculocutaneous

Albinism

  • Ocular Albinism

ABCA4 Spectrum Stargardt/Fundus Flavimaculatus

  • Macular Dysfunction
  • Peripheral Cone
  • Peripheral Rod/Cone

BEST1 Spectrum

  • AD Best Macular Dystrophy
  • Multifocal Vitelliform
  • AOFPED
  • AR Best Macular Dystrophy
  • ADVIRC

PRPH2 Spectrum

  • Pattern Dystrophy
  • Central Areolar Choroidal

Dys. EFEMP1 Spectrum Dominant Drusen Doyne’s Honeycomb Dystrophy Malattia Levintenese Sorsby Macular Dystrophy Occult Macular Dystrophy

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SLIDE 5

The Spectrum of Retinal Degenerations RP

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SLIDE 6

How do we evaluate hereditary retinal diseases?

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SLIDE 7

Electroretinogram

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SLIDE 8
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SLIDE 9
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SLIDE 10
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SLIDE 11

ERG equipment

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SLIDE 12
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SLIDE 13

Multifocal ERG

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SLIDE 14

Visual field

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SLIDE 15

Fundus photography and autofluorescence

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SLIDE 16
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SLIDE 17

OCT

slide-18
SLIDE 18

FA

slide-19
SLIDE 19

Color testing

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SLIDE 20

Family history taking

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SLIDE 21

Macular degenerations and dystrophies: pitfalls and close calls

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SLIDE 22

Differentiating AMD from Macular dystrophies

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SLIDE 23
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SLIDE 24

A word about Drusen and Drusen-like lesions

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slide-25
SLIDE 25

Patient # 1

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slide-26
SLIDE 26

Exam

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SLIDE 27
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SLIDE 28
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SLIDE 29
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SLIDE 30
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SLIDE 31
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SLIDE 32
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SLIDE 33

Pattern dystrophy-PRPH2

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slide-34
SLIDE 34

Pattern vs AMD

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slide-35
SLIDE 35

Patient # 2

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slide-36
SLIDE 36

Exam

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SLIDE 37
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SLIDE 38
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SLIDE 39
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SLIDE 40
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SLIDE 41
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SLIDE 42
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SLIDE 43
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SLIDE 44
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SLIDE 45

Stargardt disease—ABCA4

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slide-46
SLIDE 46

AMD vs Stargardt

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slide-47
SLIDE 47

Patient # 3

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  • _.3+)5&@)+#",)&",&RA&10&
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slide-48
SLIDE 48

Exam

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SLIDE 49
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SLIDE 50
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SLIDE 51
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SLIDE 52
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SLIDE 53
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SLIDE 54

AOFPED

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slide-55
SLIDE 55

AOFPED vs AMD

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slide-56
SLIDE 56

Take home points:

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SLIDE 57

Take home points:

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slide-58
SLIDE 58

Fundus autofluorescence

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SLIDE 59

Optical Coherence Tomography

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SLIDE 60

Psychophysical and electrophysiological testing

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SLIDE 61

Genetic testing

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SLIDE 62

Genetic Testing

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SLIDE 63
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SLIDE 64
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SLIDE 65

Gene Therapy - Delivery

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LN&n!&

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SLIDE 66

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SLIDE 67

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SLIDE 68

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SLIDE 69

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slide-70
SLIDE 70
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SLIDE 71

Bibliography

  • _.;?%#&2)3,%#&A,%6.?$&%,@&S%5"+&B%6(.#.9"+&A44)%;%,+)5E&

(f4d^^+#","+%#9%6)E+.?^,.;?%#F;)3,%#F%,%6.?$F%,@FD%5"+F 4%6(.#.9"+F%44)%;%,+)5^&Nc^NL^ONJL&

  • '%-5),5&_EWE8E/&)6&%#E&8%+>#%;&@$56;.4(")5&?"?"+-",9&%9)F;)#%6)@&

?%+>#%;&@)9),);%3.,5E&B;.9;)55&",&2)3,%&%,@&M$)&2)5)%;+(E&ONNJPw& gcd&OgFLuE&

  • W5>"&eE/&)6&%#E&ONNuE&A&B;%+3+%#&A44;.%+(&6.&2)3,%#&0$56;.4(")5E&

2)3,%#&B($5"+"%,E&A4;"#&ONNu&

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8)?D;%,)&B;.6)",/&A;)&A55.+"%6)@&C"6(&_.,5$,@;.?"+&A>6.5.?%#& 2)+)55"*)&8%+>#%;&0$56;.4($E&14(6(%#?.#.9$&ONJLwJOOdJuNFJuc&