Outer Retinal Structure in Best Vitelliform Macular Dystrophy

RPE pseudopods maintain photoreceptor outer segment renewal despite subretinal space expansion in Adam9 knockout mice

“…These observations, consistent with other reports in patients having expansions in the subretinal space (e.g. (5–7)), led us to evaluate the degree to which a close apposition between photoreceptor outer segments and the RPE is essential for supporting photoreceptor cell function.…”

RPE pseudopods maintain photoreceptor outer segment renewal despite subretinal space expansion in Adam9 knockout mice

“…These observations, consistent with other reports in patients having expansions in the subretinal space (e.g. (5–7)), led us to evaluate the degree to which a close apposition between photoreceptor outer segments and the RPE is essential for supporting photoreceptor cell function.…”

Photoreceptor Inner Segment Morphology in Best Vitelliform Macular Dystrophy

“…The results presented here show that within clinically apparent lesions, cone photoreceptor inner segments are enlarged and cone density is reduced. In agreement with previous AOSLO studies, 21 immediately adjacent to the lesions, both density and appearance of cone inner segments return to normal (Figure 4 and see Figure, Supplemental Digital Content 2 , http://links.lww.com/IAE/A497 , which shows split-detector and OCT imaging within and outside vitelliform lesions), lending support to BVMD causing focal photoreceptor lesions. Interestingly, patient KS_0325 has been followed clinically for 5 years with the imaged lesion exhibiting detachment of the retina from the RPE over this span.…”

“…Three extralesional locations were analyzed in 2 subjects, at approximately 1° from the fovea and just nasal to the BVMD lesion, where cone density was previously determined to be normal. 21 In KS_0601, the cone density was found to change −2.4%, −1.7%, and 1.2% over a period of 30 months. In KS_0600, the cone density was found to change 0.0%, 0.5%, and −2.6% over a period of 32 months.…”

Outer Retinal Alterations Associated With Visual Outcomes in Best Vitelliform Macular Dystrophy

“…This phenomenon reflects the direct alteration of photoreceptors through a disruption between their inner and outer segments. These SD-OCT observations were confirmed by adaptive optics scanning laser ophthalmoscopy findings (17,22) , where rarefaction of the cones and morphological changes were directly observed within the vitelliform lesion.…”

RPE pseudopods maintain photoreceptor outer segment renewal despite subretinal space expansion in Adam9 knockout mice

“…These observations, consistent with other reports in patients having expansions in the subretinal space (e.g. (5–7)), led us to evaluate the degree to which a close apposition between photoreceptor outer segments and the RPE is essential for supporting photoreceptor cell function.…”

Photoreceptor Inner Segment Morphology in Best Vitelliform Macular Dystrophy

“…The results presented here show that within clinically apparent lesions, cone photoreceptor inner segments are enlarged and cone density is reduced. In agreement with previous AOSLO studies, 21 immediately adjacent to the lesions, both density and appearance of cone inner segments return to normal (Figure 4 and see Figure, Supplemental Digital Content 2 , http://links.lww.com/IAE/A497 , which shows split-detector and OCT imaging within and outside vitelliform lesions), lending support to BVMD causing focal photoreceptor lesions. Interestingly, patient KS_0325 has been followed clinically for 5 years with the imaged lesion exhibiting detachment of the retina from the RPE over this span.…”

“…Three extralesional locations were analyzed in 2 subjects, at approximately 1° from the fovea and just nasal to the BVMD lesion, where cone density was previously determined to be normal. 21 In KS_0601, the cone density was found to change −2.4%, −1.7%, and 1.2% over a period of 30 months. In KS_0600, the cone density was found to change 0.0%, 0.5%, and −2.6% over a period of 32 months.…”

Outer Retinal Alterations Associated With Visual Outcomes in Best Vitelliform Macular Dystrophy

“…This phenomenon reflects the direct alteration of photoreceptors through a disruption between their inner and outer segments. These SD-OCT observations were confirmed by adaptive optics scanning laser ophthalmoscopy findings (17,22) , where rarefaction of the cones and morphological changes were directly observed within the vitelliform lesion.…”

RPE pseudopods maintain photoreceptor outer segment renewal despite subretinal space expansion in Adam9 knockout mice

“…These observations, consistent with other reports in patients having expansions in the subretinal space (e.g. (5–7)), led us to evaluate the degree to which a close apposition between photoreceptor outer segments and the RPE is essential for supporting photoreceptor cell function.…”

Photoreceptor Inner Segment Morphology in Best Vitelliform Macular Dystrophy

“…The results presented here show that within clinically apparent lesions, cone photoreceptor inner segments are enlarged and cone density is reduced. In agreement with previous AOSLO studies, 21 immediately adjacent to the lesions, both density and appearance of cone inner segments return to normal (Figure 4 and see Figure, Supplemental Digital Content 2 , http://links.lww.com/IAE/A497 , which shows split-detector and OCT imaging within and outside vitelliform lesions), lending support to BVMD causing focal photoreceptor lesions. Interestingly, patient KS_0325 has been followed clinically for 5 years with the imaged lesion exhibiting detachment of the retina from the RPE over this span.…”

“…Three extralesional locations were analyzed in 2 subjects, at approximately 1° from the fovea and just nasal to the BVMD lesion, where cone density was previously determined to be normal. 21 In KS_0601, the cone density was found to change −2.4%, −1.7%, and 1.2% over a period of 30 months. In KS_0600, the cone density was found to change 0.0%, 0.5%, and −2.6% over a period of 32 months.…”

Outer Retinal Alterations Associated With Visual Outcomes in Best Vitelliform Macular Dystrophy

“…This phenomenon reflects the direct alteration of photoreceptors through a disruption between their inner and outer segments. These SD-OCT observations were confirmed by adaptive optics scanning laser ophthalmoscopy findings (17,22) , where rarefaction of the cones and morphological changes were directly observed within the vitelliform lesion.…”