FACE AND FACIAL SYMMETRY
Ear Deformities – CHARGE SYNDROME
Choanal Atresia – CHARGE SYNDROME
Microcephaly – MECKEL GRUBER SYNDROME
Facial Defects - MECKEL GRUBER SYNDROME
EXTRAOCULAR MOTILITY
Esotropia if Macula is involved
IRIS AND PUPIL
The defect in the iris is the shape of a keyhole. ‘Typical’ colobomas occur in the inferonasal quadrant, whereas those occurring in any other location are termed ‘atypical.’
LENS
Lens coloboma is seen as the loss of zonular fibers in the area with the resultant flattening of the equatorial lens. They are mostly asymptomatic and appear only on dilation of the pupil.
Cataract may be seen as associated with retino-choroidal colobomas.
POSTERIOR SEGMENT
There may be associated colobomas of the optic nerve, retina, and choroid.
RETINA – Retinal involvement is seen as the replacement of the neurosensory retina to glial tissue with no underlying RPE or choroid. This appears as an area of whitening, often with pigment deposition at the junction of the coloboma normal retina. Breaks in the retina should be carefully screened out as there is an increased chance of their occurrence, also it is quite challenging to identify them because of the lack of underlying contrast.
FELLOW EYE
Usually bilateral condition
SYSTEMIC CONDITIONS
CHARGE SYNDROME
C - Coloboma
H – Heart Defects
A – choanal Atresia
R – Retarded Growth
G – Genital Defects
E – Ear Abnormalities.
MECKEL GRUBER SYNDROME
Microcephaly
Occipital encephalocele
Congenital heart defects
Polydactyly
Facial clefts
Polycystic renal and hepatic diseases.
Sjogren-Larsson Syndrome
Microphthalmos
Mental retardation
תגובות