Axial T2-W image of the orbits shows an abnormal shape to th | Figure 1

CincyKidsRad

Cincinnati Children's Radiology

Axial T2-W image of the orbits shows an abnormal shape to the posterior left globe (arrow). This deformity is termed a coloboma. A coloboma is a broad term for a developmental anomaly where a portion of the eye is missing. Colobomas can affect structures such as the eyelids, iris, lens, retina, and optic nerve.

On radiologic imaging, radiologists can identify defects in the retina or optic nerve. Colobomas can occur in isolation. However, they are associated with a number of different conditions and syndromes such as CHARGE syndrome, trisomy 13, trisomy 18, Rubinstein-Taybi syndrome, and Wolf-Hirschhorn syndrome.

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Coronal (image 1) and sagittal (image 2) T1-weighted MRI image of the brain shows absence of the septum pellucidum, hypoplasia of the optic nerves (arrowheads, image 1), and hypoplasia of the pituitary (arrow, image 2). Septo-optic dysplasia can be associated with polymicrogyria, schizencephaly, and other midline malformations. Ocular anomalies such as coloboma or microphthalmia may be present.](https://app.figure1.com/case-detail/11d8cdf5-64df-417d-b52d-ee959ad32ef6)



Optic disc coloboma found as an incidental finding at the slit lamp examination (indirect ophthalmoscopy) of a patient with cataract :
This defect is caused by an eye's embryonic fissure incomplete closure, often associated with chromosomal abnormalities, CHARGE syndrome, Goldenhar syndrome, and central nervous system abnormalities.
Some varieties appear to be caused by a PAX6 mutation.
Work-up:
-Check VA, may be decreased
-Check for ocular associations (microphthalmos, microcornea, iris coloboma)
-Investigate systemic associations
-Perimetry may show a superior defect
-Rare complications include: serous retinal detachment, neuroretinal rim thinning and choroidal neovascularization.
(Credits to Kansky's Clinical ophthalmology 8th ed)](https://app.figure1.com/case-detail/162b9771-b95a-4993-af3a-ccc139972f5f)



3D fiesta image in a 2 week old with an abnormal pupil shows a cystic, retrobulbar mass (arrow) near the optic nerve head consistent with a coloboma. The ophthalmologist clinically described the lesion as an iris, choroidoretinal, and optic nerve coloboma with microophthalmia. A coloboma is a defect in ocular structures or tissue and can be sporadic or genetic/syndromic with CHARGE (coloboma, heart, atresia choanae, retardation, genital, and ear abnormalities) being one of the most frequently associated. The MRI in this patient was performed to look for midline brain anomalies. #NeuroWednesday](https://app.figure1.com/case-detail/1739882e-3f10-4f23-9857-a33b9589e627)



Inherited renal disease often also involves the retina because the kidney and retina develop at the same embryonic stage and share developmental pathways. The glomerular filtration barrier and retinochoroidal junction are structurally similar. This patient is on dialysis three times a week and luckily only has some decreased peripheral changes. What are these findings in the retina and what might the kidney also show?](https://app.figure1.com/case-detail/3affa79b-4bbe-48ba-b0c0-73974c62de25)