Outer retinal tubulation and inner retinal pseudocysts in a patient with maternally inherited diabetes and deafness evaluated with optical coherence tomography angiogram

A 47-year-old lady (index case) with diabetes and deafness showed multiple oval circumferential areas of perifoveal atrophy in both eyes. Autofluorescence revealed areas of hypoautofluorescence. Optical coherence tomography (OCT) showed depression of inner retinal surface, inner retinal hyporeflective spaces (pseudocysts), disorganization/thinning of outer retina, outer retinal tubulation, loss of external limiting membrane, ellipsoid and interdigitation zone, and thinning of the retinal pigment epithelium and choriocapillaris. The patient was evaluated using OCT angiogram. Retinal lesions of her mother (68-year-old) were very obvious on autofluorescence imaging. The result of A3243G mutation in MTTL1 gene was positive in the index case confirming the diagnosis of maternally inherited diabetes and deafness (MIDD).

Three Cases of Outer Retinal Tubulation in Bietti's Crystalline Dystrophy

PURPOSE: To report the prevalence and the characteristics of outer retinal tubulation (ORT) in Bietti's crystalline dystrophy in 6 eyes of 3 patients. CASE SUMMARY: Three patients with Bietti's crystalline dystrophy were examined using color fundus photography, fundus autofluorescence picture, spectral domain optical coherence tomography (SD-OCT), fluorescein angiography, electroretinogram and electrooculogram. ORT was detected in 3 of 3 (100%) Bietti's crystalline dystrophy patients. SD-OCT B-scan revealed hyperreflective material inside the hyporeflective internal space with hyperreflective border. ORT was observed under the fovea or outside the fovea and on the outer nuclear layer in the retina. ORTs were no greater than 70 x 140 microm in size when measured using SD-OCT B-scan image. CONCLUSIONS: ORT was observed frequently in patients with Bietti's crystalline dystrophy. These findings can potentially predict the extensive photoreceptor abnormalities in retinal pigment epithelial atrophy.

Outer Retinal Tubulation in Chronic Central Serous Chorioretinopathy

PURPOSE: To evaluate outer retinal tubulation (ORT) found in chronic central serous chorioretinopathy (CSC) using color fundus photography and spectral domain optical coherence tomography (SD-OCT). METHODS: ORT identified in patients with chronic CSC was examined using color fundus photography, fundus autofluorescence image, fluorescein angiography, indocyanin green angiography, and SD-OCT. The images were analyzed for morphological features, location, and size of ORT in the retinal layers. RESULTS: ORT was detected in 3 of 342 (0.88%) chronic CSC patients. Color fundus photography revealed circular or ovoid shape with hollow lumen and deep yellowish border mainly appearing at the affected retinal pigment epithelium layer in the macular area. SD-OCT B-scan revealed hyperreflective material observed inside the hyporeflective internal space with hyperreflective border. ORT had circular or ovoid shape on the SD-OCT C-scan. ORT was primarily located on the outer nuclear layer in the retina, emanating to the inner nuclear layer and was not greater than 170 x 170 microm in size when measured with SD-OCT B-scan image. CONCLUSIONS: ORT was identified in patients with chronic CSC which was observed using color fundus photography and circular or ovoid structure was observed using a SD-OCT C-scan.