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K. T. Golde, C. B. Westerfeld, S. Mukai; Ocular Findings in Patients with Retinoblastoma and the 13q Deletion Syndrome. Invest. Ophthalmol. Vis. Sci. 2009;50(13):4107.
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The 13q deletion syndrome (13q del) is associated with characteristic facies and mental retardation as well as neurological, cardiovascular, gastrointestinal, genitourinary, musculoskeletal, and ophthalmic abnormalities. The ophthalmic findings include retinoblastoma (RB), microphthalmia, coloboma, hypertelorism, epicanthal folds, ptosis, and down-slanting palpebral fissures. In addition, isolated cases of posterior embryotoxon, corectopia, optic nerve atrophy, iris transillumination defects (TID), sectoral iris heterochromia, and retinal pigment changes have been reported. We reviewed the ocular findings in our patients with 13q del and RB.
We performed a retrospective chart review of 100 consecutive patients with RB seen in the Retina Service at Massachusetts Eye and Ear Infirmary to identify those with 13q del. All cases had a deletion of 13q detected by chromosomal studies. All patients had been examined under anesthesia, and their charts were reviewed with attention to the ocular findings.
Three patients (2 boys and 1 girl) with RB and 13q del were identified. All patients had bilateral RB. Two boys were caucasian and showed iris abnormalities, one with unilateral sectoral heterochromia, one with peripheral anterior synechiae in both eyes, and both with bilateral multiple peripheral punctuate TID. Both had bilateral peripapillary RPE changes away from the tumors. The third patient, a girl with darkly pigmented eyes, did not have these changes.
13q del accounted for 3% of RB patients presenting to a major pediatric retina referral center. We have identified iris and peripapillary changes involving pigmentation in 2 of 3 patients independent of the tumors or treatment. Although the child with posterior synechiae and TID had 6 cycles of three-drug systemic chemotherapy prior to our examination, we have not seen similar iris changes in the numerous cases of RB that we have treated with same or similar chemotherapy.
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