Combined hamartoma of the retina and retinal pigment epithelium in branchio-otic syndrome.
A 15-month-old boy with established branchio-otic syndrome was evaluated for decreased red reflex in the left eye. Fundus examination of left eye revealed a gray epiretinal membrane with retinal traction and ill-defined macular thickening, found on ultrasonography as a dense flat region 1.7 mm in thickness. Enhanced depth imaging optical coherence tomography revealed an epiretinal membrane with macular thickening, retinal folding, and full-thickness retinal disorganization, consistent with combined hamartoma of the retina and retinal pigment epithelium. Over 5 years of follow-up, the branchio-otic syndrome was unchanged and the combined hamartoma remained stable.
Ocular Oncology Service, Wills Eye Hospital, Thomas Jefferson University, Philadelphia, Pennsylvania.
Priyanka
P
Kadaba
Ocular Oncology Service, Wills Eye Hospital, Thomas Jefferson University, Philadelphia, Pennsylvania.
Sruthi
S
Arepalli
Ocular Oncology Service, Wills Eye Hospital, Thomas Jefferson University, Philadelphia, Pennsylvania.
Jerry A
JA
Shields
Ocular Oncology Service, Wills Eye Hospital, Thomas Jefferson University, Philadelphia, Pennsylvania. Electronic address: carol.shields@shieldsoncology.com.
Carol L
CL
Shields
D019280:Branchio-Oto-Renal Syndrome / Q000150:complications* / Q000175:diagnosis; D019773:Epiretinal Membrane / Q000175:diagnosis; D005451:Fluorescein Angiography; D006222:Hamartoma / Q000175:diagnosis / Q000209:etiology*; D034381:Hearing Loss / Q000175:diagnosis; D006801:Humans; D007223:Infant; D008297:Male; D012164:Retinal Diseases / Q000175:diagnosis / Q000209:etiology*; D055213:Retinal Pigment Epithelium / Q000473:pathology*; D041623:Tomography, Optical Coherence; D014792:Visual Acuity / Q000502:physiology