Paediatric Ophthalmology

Case 5


 

Patient Presentation: A baby boy presented on the first day of life to a retinoblastoma clinic after his mother was induced at 36 weeks’ gestation. Since his father (proband) had a history of heritable retinoblastoma, the family was offered prenatal screening of the fetus for the father’s RB1 mutation by amniocentesis. Since the child was confirmed to carry the RB1 pathogenic variant, the family was offered early-term delivery at a high-risk pregnancy unit.

Question 1: Is there a benefit of prenatal screening and planned early-term delivery for familial retinoblastoma?

The infant was examined in clinic shortly after birth, with retinal imaging (RetCam) and screening hand-held OCT (Bioptigen) of the posterior pole. No tumors were identified. Clinic exams with RetCam/OCT imaging were repeated frequently in the first month, then every 2 weeks until 3 months of age, with no evidence of tumors.

A technique for OCT screening of the fovea, optic nerve and posterior pole quadrants was previously described. OCT is performed to assess for “invisible” (subclinical) tumors that are too small to be detected clinically.


 

References:

 

Soliman SE, et al. Optical coherence tomography-guided decisions in retinoblastoma management. Ophthalmology 2017;124:859-872.

Berry JL, et al. Detection and intraretinal localization of an ‘invisible’ retinoblastoma using optical coherence tomography. Ocul Oncol Pathol 2016;2:148-152.

 At 3 months of age, the child was seen for an EUA with RetCam and screening OCT. RetCam photographs (shown below) showed no sign of tumor in the right eye. Left eye examination found a suspicious lesion superonasally.

paed_5_1.png

 In the right eye, the following OCT was acquired in the superonasal quadrant during the 3-month EUA:

paed_5_2.png

 In the left eye, the following OCT scans were acquired during the 3-month EUA over, and adjacent to, the suspicious superonasal lesion.

paed_5_3.png

Question 2: What finding is appreciated on these OCT images?

RetCam imaging and hand-held OCT were repeated immediately following the laser treatment. Post-laser retinal imaging shows whitening of the tumors and surrounding retina and OCT shows tumor swelling and hyper-reflectiveness, confirming adequate treatment.

paed_5_5.png

By 2 years of age, the patient had several focal therapies, but did not require more invasive treatments. He had a total of 6 flat retinal scars in both eyes, inactive clinically and confirmed by OCT imaging. All scars were outside of the macula. The child’s visual prognosis is excellent. The 2-year fundus photos and representative OCTs are shown below:

paed_5_6.png

Question 3: What are some other uses of OCT in retinoblastoma management?

Learning Objectives:

  1. Understand the utility of prenatal screening for familial retinoblastoma, and the role of early-term delivery for children confirmed to carry the familial RB1 mutation.

  2. Understand the characteristics of retinoblastoma on OCT imaging.