Optic disc coloboma found as an incidental finding at the sl | Figure 1

Fabrizio Sinisi
Ophthalmology Resident

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 to chromosome 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)

Similar cases

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.

41YO AA F with superior VF defect. BCVA 20/70. Longstanding. What is your diagnosis?

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.

Young male. 20/40 visual acuity in this eye. Other eye normal. No syndromic features. What do you all think?

A 52-year-old man presented with a 20-minute history of chest pain radiating to the left shoulder and neck, associated with dyspnea and diaphoresis. He had a history of hypertension, long-term smoking, and a sedentary lifestyle.

A 28-year-old woman presented with a 3-day history of intense pruritus over the lower back. She reported no recent travel or exposure to new environments.

A 4-month-old male infant presented with skin lesions localized to the chin for the past 3 days. Physical examination revealed multiple small pustules with surrounding inflammatory signs on the chin.

patient in late teens presenting after a collapse, no chest pain, no previous cardiac history, no history of sudden death in family.