OPTIC DISK PIT ASSOCIATED WITH AN UNUSUAL OUTER RETINAL HOLE AND NASAL PERIPHERAL RETINOSCHISIS.

PURPOSE: To document a peculiar case of optic disk pit-associated maculopathy with extensive nasal retinoschisis with lamellar outer retinal hole. METHODS: A 41-year-old woman presented to the eye clinic complaining of new photopsias and enlargement of the blind spot in the left eye. Uncorrected visual acuity was 20/20 in both eyes. Fundus examination of the left eye revealed an anomalous appearing optic nerve with a gray oval depression at the temporal margin of the disk consistent with an optic disk pit. RESULTS: Optical coherence tomography confirmed the presence of the pit and demonstrated outer plexiform layer schisis superonasal to the fovea and extensive inner and outer retinal schisis nasal to the nerve extending to the equator. A large lamellar outer retinal hole was noted nasal to the disk without associated retinal detachment. The vitreous appeared to be attached over the nasal retina. CONCLUSION: Multimodal imaging revealed an unusual optic disk pit-associated retinopathy with dramatically more extensive retinoschisis and a lamellar outer retinal hole nasal to the nerve despite the temporal location of the pit. Although the precise pathophysiologic mechanisms are not fully understood, forces associated with the vitreo-retinal adhesion may have contributed to the distribution of the schisis in this case.

MULTIMODAL IMAGING OF CRB1 RETINITIS PIGMENTOSA WITH A PERIPHERAL RETINAL TUMOR.

PURPOSE: To report the multimodal imaging findings of a patient with gene- crumbs 1 -associated retinitis pigmentosa (RP) characterized by preservation of para-arteriolar retinal pigment epithelium and a peripheral retinal tumor. METHODS: A 27-year-old woman was referred to our center because of progressive decreased vision in both eyes with a diagnosis of gene- crumbs 1 -associated RP. Fundus examination was remarkable for attenuated retinal vessels and bone spicule migration that was bilateral and symmetric. In addition, an elevated yellow-white mass with dilated retinal vessels was noted in the superotemporal midperiphery of the retina in the left eye without any associated exudation. RESULTS: Diffuse retinal pigment epithelium mottling was present but spared the area along the retinal arterioles. Swept-source optical coherence tomography showed diffuse outer retinal atrophy. Optical coherence tomography angiography of the peripheral lesion illustrated extensive vascularity and a possible retinal feeder vessel communicating with the tumor at its inferior margin. The phenotype of the lesion showed overlap with a vasoproliferative tumor or an astrocytic hamartoma. Over a period of 5 years of follow-up, the peripheral tumor was unchanged. No significant progression of the peripheral retinal degeneration was evidenced by autofluorescent imaging over this time period although the central acuity continued to decrease. CONCLUSION: Gene- crumbs 1 -associated RP may be characterized by preservation of the para-arteriolar retinal pigment epithelium and slow progression and may also feature a benign peripheral retinal tumor.