History/Chief Complaint

• A 10-year-old Hispanic female presented for follow-up for a retinal lesion in her esotropic left eye, which was previously diagnosed as a coloboma. Patient reports no change in her vision over the last year. Interestingly, her older sister has similar retinal lesions in her left eye as well.

Clinical Findings

• BCVA: 20/20 OD 20/150 OS
• Refractive Error: +0.25 -0.25 x 100 OD    -0.50 -1.75 x 180 OS
• Goldmann lOP 14 OU
• Fundus Exam: An oval retinal lesion superior temporal to the macula within the arcades was noted in the left eye. The lesion appeared as a second optic nerve head or “pseudo optic disc”. Several retinal vessels also appeared to
radiate from the lesion. The fundus of the right eye is within normal limits.

Zeiss Fundus Autofluorescence

• Autofluorescent images revealed a large zone of hypoautofluorescence within the area of the lesion surrounded by a ring of hyperautofluorescence.

Cirrus™ HD-OCT

• OCT sections through the lesion revealed several absent layers of the retina down to Bruch’s membrane.
• The RPE did not appear hyper-reflective which is typical of CHRPE.

Differential Diagnosis

• Chorloretlnal lacunae OS typical of Aicardi Syndrome vs. atypical lesions of Gardner’s Syndrome. (However, Gardner’s Syndrome is typically in four quadrants of both eyes and associated with a family history of colorectal cancer. In this instance, both parents are alive and well and deny a history of colorectal cancer in either family.)
• Esotropla in the left eye is the most likely explanation of the reduced VA.


• MRIs to be obtained in both sisters to support or deny the diagnosis of Aicardi Syndrome.