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

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  1. Hereditary Retinal Diseases Introduction and update !"#"$%&'()*+(),-./&01& 2)3,%&'4)+"%#"565&.7&8"+("9%,& 8"+("9%,&'6%6)&:,"*);5"6$&<.##)9)&.7&=>?%,&8)@"+",)&& A55"56%,6&B;.7)55.;&",&6()&'>;9);$&0)4%;6?),6& &

  2. Objectives • 2)*")C&56>@$&6..#5&7.;&();)@"6%;$&;)3,%#&@"5)%5)5& • 2)*")C&"?"6%6.;5&.7&A280& • 2)*")C&4.6),3%#&6;)%6?),6&7.;&();)@"6%;$&;)3,%#&@"5)%5)5&

  3. Inherited retinal diseases • <.?4;"5)&%&C"@)&;%,9)&.7&9),)3+%##$&%,@&4(),.6$4"+%##$& ()6);.9),).>5&@"5)%5)5&6(%6&5(%;)&",&+.??.,&4;.9;)55"*)&#.55&.7& 4(.6.;)+)46.;&7>,+3.,&%++.?4%,")@&D$&*"5>%#&#.55E& • 8%$&.++>;&",&"5.#%3.,&.;&%5&4%;6&.7&%&?>#3F5$56)?"+&+.,@"3.,&

  4. Retinal Degenerations/Dystrophies Macular Degenerations/ Dystrophies ABCA4 Spectrum Retinitis Pigmentosa North Carolina Cone Dysfunction Syndromes Stargardt/Fundus Macular • Achromatopsia Flavimaculatus Nonsyndromic RP Dystrophy • Oligocone Trichromacy - Macular Dysfunction • Rod-cone dystrophies • Blue cone monochromacy - Peripheral Cone • Cone-rod dystrophies • Enhanced S-cone syndrome - Peripheral Rod/Cone Isolated Foveal • Cone dystrophies Hypoplasia BEST1 Spectrum Leber’s Congential Amaurosis Rod Dysfunction Syndromes • AD Best Macular Dystrophy SECORD/Juvenile RP • Congenital Stationary Night Blindness • Multifocal Vitelliform Albinism X-Linked RP X-Linked • AOFPED • Oculocutaneous AR RP Complete CSNB • AR Best Macular Dystrophy AD RP Albinism Incomplete CSNB • ADVIRC • Ocular Albinism Autosomal Dominant Syndromic RP PRPH2 Spectrum RHO,GNAT1 , PDE6B Ciliopathies • Pattern Dystrophy Autosomal Recessive • Usher's syndrome • Central Areolar Choroidal GRM6, TRPM1, LRIT1 • Bardet – Beidl Syndrome Dys. • Joubert Syndrome • Fundus albipunctatus ( RDH5 ) • Senior Loken Syndrome • Oguchi Disease ( ARR , GRK1 ) EFEMP1 Spectrum • Alstrom Syndrome Dominant Drusen Mitochondrial (Kearns-Sayre ) Doyne’s Honeycomb X-linked Retinoschisis Peroxisomal (Zellweger, Refsum) Dystrophy Choroidal Degenerations Malattia Levintenese Fleck Dystrophies Choroderemia • Benign Familial Fleck Sorsby Macular Dystrophy Gyrate Atrophy • Retinitis Punctata Albescens Bietti Crystalline Dystrophy Occult Macular Dystrophy • Alport Late Onset Retinal Dystrophy A@%46)@&%,@&?.@"G)@&C"6(&4);?"55".,&.7&8%;-&B),,)5"/&80/&B(0&

  5. The Spectrum of Retinal Degenerations RP !"#$%&'(")$*+ • + A0/&A2/&H!/&8"6.+(.,@;"%#& /$"$0*+ • & !"#$%& 1-$+.2+3"0$'*+ • & '()*%& • &I&J&$)%;&K&!<A& • & +#,& • &JFL&$)%;5&K&'M<120& • & '+'#$& • &LFJN&$)%;5&K&H!2B& • & +'-+& • &ONFPN&$)%;5&K&A2&.;&A0&2B& • &+')*.& • &Q&LL&$)%;5&F&A>6."??>,)& :5";%.<&)*+ 4(5$%*+ • &:5();&'$,@;.?)& • &R"6;).;)3,%#& • &S%;@)6FS)"@#& • &2)3,%#& • &T.>D);6&'$,@;.?)& • &2BM& • &'),".;F!.-),& • &<(.;".;)3,%#& • &2)75>?& • &<(.;."@& • &A#56;.?& ,$-&."*+ • &8%+>#%& • &B);"+),6;%#& 3%-("$99$0*+ • &B.56);".;&B.#)& • &!$5.5.?)5& • &8"@F4);"4();$& • &B);.U"5.?)5& • &<.,+),6;"+& • &8"6.+(.,@;"%& • &B%,&2)3,%& 67")8."(9+4.00*+ • &<"#">?& • &<),6;".#)&&&&&&& • &2.@F<.,)&@$56;.4($& • &<.,)F2.@&0$56;.4($& • &<.,)&0$56;.4($& 2)4;.@>+)@&C"6(&4);?"55".,&.7&8%;-&B),,)5"/&80/&B(0& &

  6. How do we evaluate hereditary retinal diseases? • M2V& • 1<W& • R"5>%#&G)#@& • A>6.X>.;)5+),+)& • Y#>.;)5+)",&%,9".9;%?& • <.#.;&4(.6.5& • Y%?"#$&("56.;$&

  7. Electroretinogram • M#)+6;"+%#&4.6),3%#&9),);%6)@&D$&6()&;)3,%&",&;)54.,5)&6.&%&+(%,9)&",& "##>?",%3.,E& • 2)54.,5)&6.&X%5(&"5&%&5>??)@&%+3*"6$&.7&%##&;)3,%#&+)##5&%,@&+.,5"565& .7&.*);#%44",9&4.5"3*)&%,@&,)9%3*)&+.?4.,),6&4.6),3%#5&6(%6& .;"9",%6)&7;.?&@"Z);),6&56%9)5&.7&;)3,%#&4;.+)55",9&

  8. ERG equipment

  9. Multifocal ERG

  10. Visual field

  11. Fundus photography and autofluorescence

  12. OCT

  13. FA

  14. Color testing

  15. Family history taking • 0"@&%,$.,)&",&$.>;&7%?"#$&[D#..@&;)#%3*)5\&(%*)&*"5".,&4;.D#)?5&%6& $.>,9&%9)]& • 16();&6(%,&+%6%;%+65&%,@^.;&&,))@",9&9#%55)5]&

  16. Macular degenerations and dystrophies: pitfalls and close calls

  17. Differentiating AMD from Macular dystrophies • _.&4%6(.9,.?.,"+&+#","+%#&+(%;%+6);"53+5&7.;&A80& • S;.%@&4(),.6$4"+&54)+6;>?&.7&A80&%++.>,65&7.;&.*);#%4&C"6(& @$56;.4(")5& • Y#)+-5`0;>5),& • <(.;".;)3,%#&%6;.4($`V).9;%4("+&%6;.4($& • <_R& • 0"Z);),3%3.,&"5&"?4.;6%,6&D)+%>5)&.7&"?4#"+%3.,5&7.;&6()&4;.9,.5"5/& 9),)3+&+.>,5)##",9&%,@&4;)*),6%3*)&6();%4$&

  18. A word about Drusen and Drusen-like lesions =%70$"+ 69$)>0+ ?&'$99&2.%<+9$0&."0+ • Y.+%#&@)4.5"65&.7&)U6;%+)##>#%;& • e,&6()&@))4);&;)3,%#&#%$);5&",& • 2.>,@/&$)##.C"5(&#)5".,&6(%6& @)D;"5& 4.56);".;&4.#)& #..-5&#"-)&%,&)99&$.#-& • S)6C)),&D%5%#&#%?",%&.7&2BM& • R%;"%D#)&",&5"b)/&5(%4)&%,@& • e,6),5)&($4);%>6.YA& %,@&S;>+(a5&?)?D;%,)& @"56;"D>3.,& • =$4.X>.;)5+),+)&.,&YA& • <%;D.($@;%6)5/&b",+&%,@&%6&#)%56& • <%,&D)&",6);+.,,)+6)@&",&?"@F • A++>?>#%3.,&.7&($4);;)X)+3*)& JOc&4;.6)",5& 4);"4();$&6.&7.;?&;)3+>#%;& ?%6);"%#&D)6C)),&&6()& • Y>,@.5+.4$d&$)##.C"5(&,.@>#%;& 4%f);,& ,)>;.;)3,%&%,@&2BM& #)5".,&#.+%6)@&%6&6()&4.56);".;& 4.#)& • <>3+>#%;& • 2)3+>#%;& • <.##."@&

  19. Patient # 1 • gP&$E.E&?%#)&4;)5),65&7.;&)*%#>%3.,&.7&'6%;9%;@6&8%+>#%;&0$56;.4($&& • _.&*"5>%#&+.?4#%",65&& • B8=d&:#+);%3*)&+.#"35&5^4&+.#)+6.?$/&()%@%+()5/&%,)?"%/&,#&@")6& • Y1=Ud&A@.46)@& • 21'd&_)9%3*)&

  20. Exam ,&-#'+$5$++ 4$@+$5$+ ?&07(9+()7&'5++ ON^ON& ON^ON& !3A+ JP& JO& B,,+ h^h& h^h& 1"'$%&.%+0$-<$"'++ _.;?%#& _.;?%#& 1"'$%&.%+C&'%$.70+ _.&+)##& _.&+)##&

  21. Pattern dystrophy-PRPH2 • A0& • B;)5),6&",&?"@#"7)&C"6(&?"#@&+),6;%#&*"5".,& @"56>;D%,+)5& • S>f);X$& • 2)3+>#%;& • Y>,@>5&4>#*);>#),6>5& • B5)>@.F'6%;9%;@6& • Y#)+-5&",&6()&4.56);".;&4.#)&%,@&%;.>,@&*%5+>#%;& %;+%@)5& • B;)+)@)@&D$&?%+>#%;&4%f);,&@$56;.4($&.;& ,.,54)+"G+&7.*)%#&+(%,9)5& • YAY&5(.C5&("9(#$&",+;)%5)@&%>6.YA/&C("+(&)*.#*)& 6.C%;@&+.,X>),6&%6;.4("+&%;)%5&%,@&5(.C5&#%;9);& b.,)&.7&@)+;)%5)@&YAY&5"9,%#&

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