Abstract
Congenital grouped pigmentation of the retinal pigment epithelium (CGPRPE) is a rare ocular abnormality that has been described as an isolated finding or in conjunction with a few systemic conditions. We present the case of a patient with CGPRPE who also has microcephaly, intrauterine growth retardation, mild developmental delay, and deletions of 13q33.3-q34 and 11p15.4. We believe this represents a distinct syndrome in which CGPRPE and microcephaly are the predominant features and that the responsible gene possibly resides in one of the deleted chromosomal regions.
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