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Correspondence |

Bilateral Sporadic Retinoblastoma in a Child Born After In Vitro Fertilization

Johannes R. M. Cruysberg, MD, PhD; Annette C. Moll, MD, PhD; Saskia M. Imhof, MD, PhD
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Copyright 2002 American Medical Association. All Rights Reserved. Applicable FARS/DFARS Restrictions Apply to Government Use.

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Arch Ophthalmol. 2002;120(12):1773-1773. doi:
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In the October 2001 issue of the ARCHIVES, Anteby et al1 described the ocular abnormalities found in children born after in vitro fertilization (IVF), including 1 case of unilateral retinoblastoma.

In January 2001, we saw a case of sporadic bilateral retinoblastoma in a child born after IVF. A 3-year-old girl was referred because of strabismus of the left eye. There was no family history of ocular disorders. On ocular examination, visual acuity was 20/20 OD and less than 20/1000 OS. External examination showed exotropia of the left eye with a small angle of squint. Anterior segments were normal. On ophthalmoscopic examination, a small retinoblastoma was found at the nasal periphery of the right eye, and a very large retinoblastoma was found at the posterior pole of the left eye. Intratumoral calcification was established with ultrasonography. Histopathologic analysis of the enucleated left eye confirmed the diagnosis of retinoblastoma. The tumor in the right eye was treated with a radioactive ruthenium plaque. The tumor scar was flat, and no new tumors developed in the follow-up period of 10 months. An RB1 gene germline mutation was seen during DNA analysis.

Anteby et al1 suggest that the development of retinoblastoma is caused by a de novo deletion occurring as a "second hit" during early embryogenesis, as it occurs in the population of children at large, or, alternatively, that the 2-hit deletions occur in the retinal cells because of a higher tendency for chromosomal breakage and deletions in IVF-born children.2 3

Our observation supports the idea that children born after IVF pregnancy may have an increased risk of retinoblastoma.

REFERENCES

Anteby  I, Cohen  E, Anteby  E, BenEzra  D. Ocular manifestations in children born after in vitro fertilization. Arch Ophthalmol. 2001;1191525- 1529
Peschka  B, Leygraaf  J, Van der Ven  K.  et al.  Type and frequency of chromosome aberrations in 781 couples undergoing intracytoplasmic sperm injection. Hum Reprod. 1999;142257- 2263
Edirisinghe  WR, Murch  A, Junk  S, Yovich  JL. Cytogenetic abnormalities of unfertilized oocytes generated from in vitro fertilization and intracytoplasmic sperm injection: a double-blind study. Hum Reprod. 1997;122784- 2791

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Use interactive graphics and maps to view and sort country-specific infant and early dhildhood mortality and growth failure data and their association with maternal

Anteby  I, Cohen  E, Anteby  E, BenEzra  D. Ocular manifestations in children born after in vitro fertilization. Arch Ophthalmol. 2001;1191525- 1529
Peschka  B, Leygraaf  J, Van der Ven  K.  et al.  Type and frequency of chromosome aberrations in 781 couples undergoing intracytoplasmic sperm injection. Hum Reprod. 1999;142257- 2263
Edirisinghe  WR, Murch  A, Junk  S, Yovich  JL. Cytogenetic abnormalities of unfertilized oocytes generated from in vitro fertilization and intracytoplasmic sperm injection: a double-blind study. Hum Reprod. 1997;122784- 2791

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