54 results
Article
Coloboma
Coloboma is a collective term encompassing any focal discontinuity in the structure of the eye and should not be confused with staphylomas which are due to choroidal thinning.
Terminology
While coloboma is the collective term for any focal discontinuity in the eye's structure, many people use...
Article
Renal coloboma syndrome
Renal coloboma syndrome (also known as papillorenal syndrome) is a rare condition that primarily affects kidney and eye development.
Affected individuals typically have hypoplastic kidneys, which can lead to end-stage renal disease. Approximately 10% of children with hypodysplastic kidneys have...
Case
Coloboma
Published
28 Nov 2021
95% complete
MRI
Case
Ocular chorioretinal coloboma
Published
11 Apr 2022
95% complete
CT
Case
Glaucoma and chorioretinal coloboma
Published
01 Jun 2022
95% complete
CT
Case
Coloboma
Published
01 Jun 2011
62% complete
CT
Case
Coloboma of the optic nerve head
Published
05 Sep 2022
94% complete
Ultrasound
Case
Chorioretinal coloboma in left eye and staphyloma in right eye
Published
31 Mar 2022
98% complete
CT
Case
Coloboma with vitreous hemorrhage
Published
15 Nov 2020
76% complete
MRI
Case
Coloboma of optic nerve head
Published
15 May 2017
83% complete
CT
Playlist
Coloboma
1 case
No description provided
Playlist
Coloboma
7 cases
No description provided
Case
Bilateral coloboma with probable CHARGE Syndrome
Published
21 Feb 2018
71% complete
MRI
Question
Question 3038
Which of the following statements regarding colobomas is TRUE?
Article
CHARGE syndrome
CHARGE syndrome is a phenotype associated with CHD7 gene mutation originally defined by a constellation of congenital anomalies:
C: coloboma
H: heart defects
A: atresia choanae
R: retarded growth and development
G: genital hypoplasia
E: ear abnormalities and/or deafness
According to updat...
Article
COACH syndrome
The acronym COACH describes a syndrome associated with:
C: cerebellar vermis defect (Joubert syndrome)
O: oligophrenia
A: ataxia
C: coloboma
H: hepatic fibrosis
Epidemiology
COACH syndrome is considered extremely rare.
Associations
The association with infantile polycystic kidney diseas...
Article
Morning glory syndrome (eye)
Morning glory disc anomaly (MGDA), also known as morning glory syndrome, is a rare congenital malformation of the optic nerve which is frequently associated with midline abnormalities of the brain and skull 1.
Epidemiology
Morning glory disc anomaly is rare and is more commonly found in female...
Article
Staphyloma
Staphyloma refers to acquired thinning and weakening of the uveo-scleral layer of the eye with focal uveal protrusion. This outpouching has a smaller radius than the surrounding globe. Staphylomas most commonly occur posteriorly, temporal to the optic disc, in the context of myopia.
Clinical pr...
Article
Persistent hypophyseal canal
Persistent hypophyseal canal, also known as the craniopharyngeal canal when larger than 1.5 mm in diameter, is a rare congenital defect characterized by communication through the central skull base between the nasopharynx and the pituitary fossa.
Terminology
There are a number of terms that r...
Article
CHEDDA syndrome
CHEDDA syndrome stands for congenital hypotonia, epilepsy, developmental delay and digital anomalies. Is a newly discovered neurodevelopmental syndrome associated with mutations in a conserved histidine-rich motif within Atrophin-1 (ATN-1).1
Epidemiology
CHEDDA syndrome is very rare, with only...
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