Adams, Olufemi E.

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.

Purpose: To highlight spontaneous resolution or improvement of myopic retinoschisis (MR) in actively surveilled patients. Methods: Case series of five patients diagnosed with MR who did not undergo pars plana vitrectomy and were carefully monitored by a single retina specialist. Ocular and medical history were reviewed, and clinical characteristics including visual acuity and the status of the MR were monitored with spectral domain optical coherence tomography (SD-OCT) at each clinic visit. Results: Five patients were identified to have MR without vitreomacular traction, or macular hole formation. Two patients exhibited spontaneous and complete resolution of MR without surgical intervention over an average observation time of 52.5 months. In these cases, a clinical posterior vitreous detachment was documented preceding the resolution of MR over an average time of 26.5 months. Snellen best-corrected visual acuity in these patients improved (Case 1 from 20/50 to 20/40, Case 2 from 20/30 to 20/25). The remaining three patients were monitored for an average of 52 months and showed improvement of MR via OCT imaging. Snellen best-corrected visual acuity either remained stable or improved from baseline (Case 3 stable at 20/30, Case 4 improved from 20/40 to 20/30, and Case 5 stable at 20/20). Conclusion: These findings suggest that conservative management of MR with observation can be considered especially in patients with challenging comorbidities (such as monocular status), and with a clinically identified posterior vitreous detachment without vitreomacular traction.