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ROUTINE FUNDUS SCREENING OF FAMILIES OF CHILDREN WITH RETINOBLASTOMA

A Prospective Study of 131 Consecutive Families

Kaliki, Swathi MD; Gupta Rathi, Shweta MD; Patel, Anamika MD

doi: 10.1097/IAE.0000000000002134
Original Study
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Purpose: To discuss the importance of routine ophthalmic examination of parents and siblings of retinoblastoma (RB) patients.

Methods: Prospective nonrandomized observational/interventional case series of consecutive families of 131 RB patients.

Results: Routine ophthalmic examination of families (parents and siblings) of 131 consecutive newly diagnosed RB patients, including 262 parents and 23 siblings, revealed spontaneously regressed RB in at least 1 parent of 10 (8%) patients and active RB in at least 1 sibling of 3 (2%) patients. Of the 10 parents with spontaneously regressed RB, the lesions were unilateral (n = 7) or bilateral (n = 3). The regression patterns (n = 13) were comparable with postirradiation regression patterns Type 1 (n = 3), Type 2 (n = 2), Type 3 (n = 2), and Type 4 (n = 3), and spontaneous phthisis bulbi (n = 3). Fundus screening of siblings revealed active RB in at least 1 sibling of 3 (2%) patients. Of these 3 siblings, 2 had unilateral and 1 had bilateral disease. The mean age at detection of RB was 15 months (median, 6 months; range, 2–36 months). The disease was unilateral in 2 and bilateral in 1 patient. Based on International Classification of Intraocular Retinoblastoma, the tumors (n = 4) were classified as Group A (n = 2) and Group B (n = 2).

Conclusion: Routine fundus screening of siblings allows for early detection of RB in otherwise asymptomatic children. Detection of spontaneously regressed RB in parents may act as a surrogate marker for germline RB1 mutation and is helpful in genetic counseling.

Routine fundus screening of parents and siblings of 131 consecutive retinoblastoma patients revealed spontaneously regressed retinoblastoma in at least 1 parent of 10 (8%) patients and active retinoblastoma in at least 1 sibling of 3 (2%) patients.

The Ocular Oncology Service, The Operation Eyesight Universal Institute for Eye Cancer, L V Prasad Eye Institute, Hyderabad, India.

Reprint requests: Swathi Kaliki, MD, The Operation Eyesight Universal Institute for Eye Cancer, L V Prasad Eye Institute, Hyderabad-500034, India; e-mail: kalikiswathi@yahoo.com

Support provided by The Operation Eyesight Universal Institute for Eye Cancer (S.K.) and Hyderabad Eye Research Foundation (S.K.), Hyderabad, India.

None of the authors has any financial/conflicting interests to disclose.

© 2019 by Ophthalmic Communications Society, Inc.