- Night blindness, visual field constriction, and progressive death of photoreceptor cells are symptoms. There is also loss of rod and cone responses on electroretinography and clinical degeneration of the outer retina. - For Stargardt disease, central vision is lost by age 60 and peripheral vision is affected. Patients develop blue blindness. In adolescence, half of the peripheral visual field is lost. Night blindness is the first symptom. - Mutations are natural changes in a DNA sequence that can involve substitution of a single base, deletion of a base, or insertion of an extra base. Mutation leads to different alleles of a gene.

4. -▪ Night blindness
▪ Visual field constriction
▪ Progressive photoreceptor
dysfunction and death
▪ Loss of rod and cone
electroretinography (ERG)
responses
▪ Clinical degeneration of the outer
retina
▪ Intraneural retinal ‘bone-spicule’
pigment

5. - EDAD 60 se pierde toda la vision central
-Se afecta todo un campo de vision periferica
-Desarrollan una ceguera azul
-ADOLECENCIA perdida de la mitad de un
campo de vision periferica
-1ERO ceguera nocturna

13. Sustitucion de
nucleotidos: un par de
bases quedan apareados
incorrectamente
COMOSEDA
Por insercion
cuando se agregan
un par de bases
nuevas en un gen
Por deleccion cuando se
retiran un par de bases
en un gen
Que es ?
cambios en la
secuencia de
bases de un ADN

14. is a natural
process that
changes a
DNA
sequence.
single base
is
substituted
for another
a base is
deleted
extra base
is added
Mutation =
called
alleles

35. AUTOR Idea YES/NO
Renkema,K.Y.,Stokman,M.F.,giles-
Ratnapriya, R. & swaroop
“Next-generation sequencing
(NGS) is a highly versatile and
effective approach to detecting
novel disease-causing genes and
mutations in families with
different diseases, including
retinopathies.”
YES
Benjaminy,S.,Kowal, Macdonald,
Chacarova, Daiger, Sullivan.
“Thus far, at least 280 genes have
been identified as the cause of
one form or another of inherited
retinal diseas”
YES
Roosing, Thress K.S “NGS offers a cost-effective
approach to detecting disease-
causing genes for clinically and
genetically heterogeneous
disorders or drugs resistant
genes,”
YES
Gilissen, C. M.,
Sung,Brunner,Nishiguchi, rivolta
“In addition, the success of using NGS
data may be inconsistent because of
diferente diseas inheritance
modes.specifically, because the
pathogenic mutations for autosomal
recessive disorders.”
NO

42. GRACIAS!