case_images: PMC5611614_01
case_images: Findings at presentation. External color photograph demonstrating an inferonasal iris coloboma in the right eye (a) and a normal iris configuration in the left eye (b). Color fundus photograph demonstrating an inferonasal chorioretinal coloboma of the right eye (c) and a normal appearing fundus in the left eye (d). Optic disc photograph of the right eye shows an anomalous appearing disc with mild tilting and peripapillary atrophy (e). The optic disc photograph of the left eye showed subtle temporal optic disc pallor (f). Humphrey visual fields 30-2 of the right eye (h) and left eye (g) showed central depression. SD-OCT of the macula and nerve of the right eye (i) and left eye (J) were unremarkable. SD-OCT RNFL showed artifact inferiorly in the right eye consistent with the coloboma and showed normal thickness and contour in the left eye (k). The SD-OCT GCL analysis showed thickening in the inferonasal macula secondary to artifact in the right eye and mild thinning in the nasal macula in the left eye (l)
case_images: 40942_2017_89_Fig1_HTML.jpg
case_images: PMC5611614_01_40942_2017_89_Fig1_HTML.jpg
case_images: Fig1
case_images: Anterior segment examination of the right eye revealed a previously identified inferonasal colobomatous defect of the iris (Fig. 1a). The left eye was unremarkable (Fig. 1b). Ophthalmoscopy revealed a previously identified inferonasal chorioretinal coloboma in the right eye (Fig. 1c) and was unremarkable in the left eye (Fig. 1d). Examination of the optic nerve showed an anomalous appearing optic nerve with tilting and mild peripapillary atrophy in the right eye (Fig. 1e) and trace segmental pallor of the temporal optic nerve head in the left eye (Fig. 1f). Baseline Humphrey visual fields 30-2 showed mild central depression in the left (Fig. 1g) and the right (Fig. 1h) eyes. The SD-OCT (Cirrus; Carl Zeiss Meditec) of the macula in the right eye (Fig. 1i) and the left eye (Fig. 1j) eye were unremarkable. The SD-OCT retinal nerve fiber layer (RNFL) showed an abnormal contour with artifact inferiorly from the coloboma in the right eye and no thickening or thinning in the left eye (Fig. 1k). The SD-OCT ganglion cell layer (GCL) analysis showed thickening in the inferonasal macula secondary to artifact from the coloboma in the right eye and mild thinning in the nasal macula in the left eye (Fig. 1l).
case_images: Findings 8 months post-intoxication. SD-OCT of the macula revealed ovoid shaped areas of hyporeflectivity in the nasal aspect of the macula in the right eye (a) and left eye (b). With greater magnification, these cysts appeared highly uniform and localized to the inner nuclear layer, consistent with INL microcysts in the right eye (c, arrow) and left eye (d, arrow). SD-OCT RNFL was unchanged from presentation in the right and left eyes (e). However, SD-OCT GCL analysis showed a wedge-shaped area of ganglion cell layer thinning in the nasal macula of both eyes, corresponding to the papillomacular bundle (f)
case_images: 40942_2017_89_Fig2_HTML.jpg
case_images: PMC5611614_01_40942_2017_89_Fig2_HTML.jpg
case_images: Fig2
case_images: SD-OCT of the macula showed a new finding of multiple retinal microcysts nasally in the right eye (Fig. 2a) and left eye (Fig. 2b). The cysts appeared highly uniform and localized to the inner nuclear (Fig. 2c, d). Although repeat SD-OCT of the RNFL was unchanged (Fig. 2e), the SD-OCT GCL now revealed bilateral wedge-shaped segmental defects of the papillomacular bundles (Fig. 2f).