Complex Syndrome of Posterior Microphthalmos–Retinitis Pigmentosa–Foveoschisis–Optic Disc Drusen in a 13-year-old Boy
1Department of General Ophthalmology, Tabriz University of Medical Sciences, Nikookari Eye Hospital, Tabriz, Iran
J Clin Pract Res 2022; 44(6): 612-614 DOI: 10.14744/etd.2021.64614
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Abstract

Background: Microphthalmos is an embryonic developmental anomaly that may rarely accompany other congenital ocular disorders.
Case Report: A rare, complex syndrome was observed in a 13-year-old boy with a chief complaint of progressive blurred vision without any known trigger and no familial history of relevant ocular disease. The prominent ophthalmic finding was progressive hyperopia, steep corneas, and a short axial length. Slit-lamp examination revealed optic disc drusen, which were confirmed with echography. The ocular images also indicated the presence of foveoschisis and a macular fold.
Conclusion: Given the multiple structural anomalies and non-consanguineous parents, this appeared to be a very rare ocular syndrome.