encephalocele or neurovascular abnormalities, (6) while coloboma
Next, he failed his hearing test and they also noticed colobomas
(holes) on his eyes.
syndrome is inherited autosomal dominantly and PAX2 is the only gene known to be associated with RCS (4).
can occur as an isolated congenital abnormality or as part of a syndromic setting, including CHARGE (Coloboma
, Heart malformations, choanal AtResia, Growth and/or mental retardation, genital anomalies, Ear anomalies and/or deafness), VATER (Vertebrae, Anus, Trachea, Esophagus, and Renal), branchio-oculo facial, Meckel-Gruber, Walker-Warburg, and Goldenhar syndromes; Aicardi, basal cell nevus; and Trisomy 13 and 18.
For example, a coloboma
of the retina may cause deficits in vision.
is a "hole" or defect in one part of the eye that occurs before birth.
Microanophthalmia, Anophthalmia and Coloboma
can affect only one baby in every 100,000, but the effects -being born with no eyes or significantly weaker vision -can be devastating.
MADDIE was born with an eye blemish called a coloboma
- a black split in her iris which runs from pupil to the white
29) based on common features of the syndrome: C-- coloboma
of the eye (missing part of iris and/or retina); H--heart defects; A--atresia of the choanae (bony or membranous blocking of nasal passage); R--retardation of growth and/or development; G--genitourinary anomalies; E--ear anomalies and/or deafness.
of the eye and cranial nerve abnormalities.
Seven-year-old Megan was born with coloboma
- a defect in her eye structure - and has poor sight.
Inherited retinal dystrophy associated with ocular coloboma
causes gaps to form in certain eye structures during their development, often resembling a keyhole shape in the iris.