Naravane, Ameay V.

Purpose: To describe the syndromic, clinical, and retinal findings of a patient with an extremely-rare genetic condition known as Hardikar syndrome (HS) with presentation of optical coherence tomography, fundus autofluorescence, fluorescein angiographic, and indocyanine green angiographic findings. Methods: Clinical course was detailed and followed over time with examinations and multimodal imaging. Patient and Results: A 17-year-old patient with HS was referred for possible retinitis pigmentosa. Dilated fundoscopic examination revealed large, multifocal cauliform patches of chorioretinal retinal pigment epithelium changes with retinal pigment epithelium drop-out involving the macula and periphery in both eyes. Additionally, an inactive choroidal neovascular membrane was present in the left eye. Multimodal imaging with optical coherence tomography, fundus autofluorescence, fluorescein angiography, and indocyanine green angiography correlated with the clinical findings of focal patches of chorioretinal degeneration in both eyes. Additionally, an anomalous finding of the superior retinal arterial vessels filling in tandem with the choroidal was present in the left eye. The patient's clinical findings were consistent with HS, and genetic testing with whole-exome sequencing revealed a pathogenic mutation in the MED12 gene, confirming diagnosis. Discussion and Conclusions: Hardikar syndrome is associated with retinal pigment epithelium degeneration, creating focal patches of pigmentary chorioretinal atrophic lesions. Vision loss can occur because of the development of choroidal neovascular membranes. The authors recommend close evaluation and follow-up for HS patients with multimodal retinal imaging.