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Key Points

  • Most common intraocular tumor of childhood, with only a few cases diagnosed antenatally.

  • Retinoblastoma develops in cells that have mutations in both copies of the gene RBI, which is located on chromosome 13q14.

  • Retinoblastoma may be nonheritableor heritable. When familial, a single RB1 mutation is inherited as an autosomal dominant condition. Tumor formation then requires a second mutation. Heritable forms are predisposed to second malignancies, such as sarcoma.

  • Prenatal sonography is an extremely insensitive screening technique for families at risk for recurrence. DNA diagnosis is definitive if the RB1 mutation is known.

  • In fetuses with a suspected retinoblastoma and negative family history, work-up should include chromosome analysis with FISH probes for 13q14 deletion, level II sonography, and delivery in a tertiary setting.

  • Many postnatal treatment options exist, including radiation, enucleation, and chemotherapy.


Retinoblastoma is the most common intraocular tumor of childhood (Donaldson et al., 1993). It is a malignant tumor that arises from the embryonic neural retina. This tumor is thought to be congenital, although it may not be recognized at birth. Although it usually presents during early childhood, there hasbeen at least one report of retinoblastoma diagnosed in utero (Maat-Kievit et al., 1993). Retinoblastoma occurs in both sporadic and inherited forms, with the hereditary type predisposing to other malignant tumors (Abramson et al., 1984; Murphree and Benedict, 1984; Roarty et al., 1988; Wilson et al., 1996). Retinoblastoma is usually characterized by rapid growth, enlarging over a period of only weeks to destroy increasing amounts of the retina. The tumor can fill the eye, either by direct enlargement or by growth of tumor seeds. Once the globe is filled by the tumor, orbital and intracranial extension may occur. Retinoblastoma has been said to have a spontaneous regression rate of 1%, but this figure is sometimes confused with two separate processes (Gallie and Phillips, 1982). In the first process there is true regression after an enlarged intraocular tumor becomes totally necrotic. The tumor subsequently atrophies, resulting in a small, disorganized blind eye. The second process occurs in a functional eye as a benign variant of retinoblastoma, which has been termed “retinocytoma” or “retinoma” (Gallie and Phillips, 1982; Marga et al., 1983; Zimmerman, 1985). These tumors are usually composed of viable, benign-appearing tumor cells with a high degree of photoreceptor differentiation. On ophthalmoscopic examination, retinomas have an appearance similar to retinoblastomas that have undergone regression following radiotherapy. Despite the presence of the retinoma, vision is usually normal, but the genetic implications are the same as for retinoblastoma.

The majority of cases of retinoblastoma are diagnosed while the tumor remains confined to the eye. In contrast, in prenatal diagnosis, because of the insensitivity of sonographic evaluation of the eye, to be detected there must be gross extension to the orbit (Maat-Kievit et al., ...

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