- A
coloboma (from the Gr**** κολόβωμα,
meaning "defect") is a hole in one of the
structures of the eye, such as the iris, retina, choroid, or
optic disc...
-
Joubert syndrome is a rare
autosomal recessive genetic disorder that
affects the cerebellum, an area of the
brain that
controls balance and coordination...
- "CHARGE" came into use for
newborn children with the
congenital features of
coloboma of the eye,
heart defects,
atresia of the
nasal choanae,
restricted growth...
-
genetic disorder marked by
underdevelopment (hypoplasia) of the
kidney and
colobomas of the
optic nerve.
Ocular disc
dysplasia is the most
notable ocular defect...
-
Coloboma of macula-brachydactyly type B syndrome, also
known as
Sorbsy syndrome is a rare
genetic disorder which is
characterized by
bilateral macular...
-
regulatory factors, have been
implicated in microphthalmia, anophthalmia, and
coloboma: ABCB6 ACTB ACTG1 ALDH1A3 ATOH7 BCOR BMP4 BMP7 C12orf57 CC2D2A CHD7 CLDN19...
-
numerous facial dysmorphias not
limited to hypertelorism, iris or
retinal coloboma,
cleft lip, and
congenital heart defects. This
syndrome has been seen in...
- when
heart or
kidney abnormalities are seen.
Unilateral or
bilateral iris
coloboma (absence of
tissue from the
colored part of the eyes)
Preauricular pits/tags...
-
Coloboma of
optic nerve is a rare
defect of the
optic nerve that
causes moderate to
severe visual field defects.
Coloboma of the
optic nerve is a congenital...
-
syndrome Coloboma chorioretinal cerebellar vermis aplasia Coloboma hair
abnormality Coloboma of
choroid and
retina Coloboma of eye lens
Coloboma of iris...
