COMPLEX SYNDROME OF POSTERIOR MICROPHTHALMOS–RETINITIS PIGMENTOSA–FOVEOSCHISIS–OPTIC DISC DRUSEN IN A 13-YEAR-OLD BOY

BANAFSHEH KHARRAZİ GHADİM, MOHAMMAD HOSEİN AHOOR, MOHAMAD REZA NİYOUSHA

Journal of Clinical Practice and Research - 2022;44(6):612-614

Department of General Ophthalmology, Tabriz University of Medical Sciences, Nikookari Eye Hospital, Tabriz, Iran

 

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.