With great interest we read the photo essay by Schocket et al1 with a useful summary of the general and ophthalmological findings in the 13q deletion syndrome.
We have treated a patient with a large interstitial deletion of 13q13-q32 who also had familiar malformations associated with the 13q deletion syndrome. The key ophthalmological finding in our particular patient, however, was a unilateral uveal coloboma combined with retinoblastoma. The other eye remained normal after 4 years of follow-up.
Lansink PJ, Moll AC, Imhof SM, Schouten-van Meeteren AYN, Goverts ST. Variable Expression of Ophthalmological Findings in the 13q Deletion Syndrome. Arch Ophthalmol. 2005;123(1):127–128. doi:10.1001/archopht.123.1.127-c
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