—We agree with Dr Raizman's comment that microphthalmos is a common finding in children with a deletion of the long arm of chromosome 13, but we believe that a distinction should be made between microphthalmos and microphthalmos with cyst. Although bilateral microphthalmos with cyst is usually associated with other systemic anomalies, to our knowledge it has never been described with the 13q syndrome.Dr Raizman's statement that embryonic ocular defects such as microphthalmos "are a hallmark of the 13q and ring 13 syndromes" is misleading. According to current usage, the term hallmark means a distinguishing feature. Microphthalmos, however, is a manifestion of a variety of unrelated disorders. It may be found in association with congenital infections and in several chromosomal abnormalities besides 13q, as well as being a feature of other ocular anomalies such as persistent hyperplastic primary vitreous. There have been more than 25 different systemic abnormalities
Weiss A, Margo CE. Ocular Abnormalities Accompanying Chromosome 13 Defects-Reply. Arch Ophthalmol. 1987;105(6):744. doi:https://doi.org/10.1001/archopht.1987.01060060022011
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