Pathologic Changes of Cone Photoreceptors in Eyes With Occult Macular Dystrophy

Abstract

A sparse array of cone photoreceptors with significantly reduced density of the macula is one of the morphologic features of OMD.

Restoration of Cone Interdigitation Zone Associated With Improvement of Focal Macular ERG After Fovea-Off Rhegmatogenous Retinal Reattachment

“…Even though the fundus of OMD patients appears normal, recent studies reported the presence of EZ but the absence of CIZ in the SD-OCT images in most of the cases. [37][38][39][40] This condition might indicate that the CIZ is essential for generating the electrical potentials from the photoreceptors in the macular area. Our results showed that the amplitudes of the b-waves at both 1 and 6 months were not significantly correlated with the length of the EZ and CIZ and outer photoreceptor area as shown in Supplementary Figure S3.…”

Phenotype Variations Caused by Mutations in theRP1L1Gene in a Large Mainly German Cohort

“…[6][7][8][9][10] With the development and refinement of optical coherence tomography (OCT), eyes diagnosed with OCMD by electrophysiology were found to have structural abnormalities in spite of the normal appearance of the macula on ophthalmoscopy. 7,[11][12][13][14] Spectral-domain OCT (SD-OCT) imaging has shown subtle morphologic changes including blurring or disruptions in the ellipsoid zone (EZ) of the photoreceptor layer, the absence of the normal ''bowing effect'' and the loss of cone outer segment tips. [11][12][13][14] In 2010, Akahori et al 1 successfully linked the disorder to chromosome 8 and the RP1L1 gene.…”

“…7,[11][12][13][14] Spectral-domain OCT (SD-OCT) imaging has shown subtle morphologic changes including blurring or disruptions in the ellipsoid zone (EZ) of the photoreceptor layer, the absence of the normal ''bowing effect'' and the loss of cone outer segment tips. [11][12][13][14] In 2010, Akahori et al 1 successfully linked the disorder to chromosome 8 and the RP1L1 gene. So far, a limited number of dominant mutations and variants of uncertain significance have been identified: most important is p.R45W, 1,3,4,15,16 which is recurrently found in all populations irrespective of ethnic descent, and indicative for a mutation hotspot, but also other missense variants have been discussed.…”

Relationship Between Cone Loss and Microvasculature Change in Retinitis Pigmentosa

“…We did not assess the CD within 400 lm of the foveal center due to the limit of resolution of the rtx1 systems. [29][30][31][32] The regional sampling method was previously described. 33 The area within an annulus of 0.4-to 2.4-mm diameter was defined as the total annular zone (TAZ) in a 3 3 3mm area ( Fig.…”