Electron Microscopy of a Retinal Abiotrophy

An unusual retinal vascular morphology in connection with a novel AIPL1 mutation in Leber's congenital amaurosis

“…14 Late in the course of the disease, full thickness retinal and choroidal atrophy are present and the morphology is similar to that seen in retinitis pigmentosa. 15 The retinal vessels show hyalinisation, 15 16 which was only observed in the anterior, atrophic retinal areas of our case. Focal hyalinisation of the choriocapillaris has also been observed, 16 but was absent in the present case.…”

An unusual retinal vascular morphology in connection with a novel AIPL1 mutation in Leber's congenital amaurosis

“…14 Late in the course of the disease, full thickness retinal and choroidal atrophy are present and the morphology is similar to that seen in retinitis pigmentosa. 15 The retinal vessels show hyalinisation, 15 16 which was only observed in the anterior, atrophic retinal areas of our case. Focal hyalinisation of the choriocapillaris has also been observed, 16 but was absent in the present case.…”

Leber congenital amaurosis due to RPE65 mutations and its treatment with gene therapy

“…Descriptions of donor retinas from patients diagnosed with LCA in the premolecular era show considerable diversity of observation with severe outer retinal degeneration found in some retinas whereas minimal outer retinal abnormalities found in others (Horsten & Winkleman, 1960; Kroll and Kuwabara, 1964; Mizuno et al, 1977; Noble and Carr, 1978). In retrospect, these findings are not inconsistent with what is now known to be a diversity of molecular causes for LCA (den Hollander et al, 2008).…”

Ultrastructural, Histochemical, Cytological Study of Retina of Aborted Fetus of Various Weeks of Gestation – an Anatomical Perspective with Implications on Patients with Retinitis Pigmentosa

“…Whorls are probably either the product of incomplete phagocytosis by RPE cells or damaged outer segments of photoreceptor cells. However, melanolysosomes, which are present in RPE cells in the fovea and perifoveal region, can be a future predictor of autosomal dominant RP (13) or leber congenital amaurosis (14). Autophagic vacuoles in cone cells are meant for autodigestion and reflect the degradation process within the cone cells, but they can be found in normal photoreceptor cells (15) as well as following ischaemic events (16).…”

An unusual retinal vascular morphology in connection with a novel AIPL1 mutation in Leber's congenital amaurosis

“…14 Late in the course of the disease, full thickness retinal and choroidal atrophy are present and the morphology is similar to that seen in retinitis pigmentosa. 15 The retinal vessels show hyalinisation, 15 16 which was only observed in the anterior, atrophic retinal areas of our case. Focal hyalinisation of the choriocapillaris has also been observed, 16 but was absent in the present case.…”

Leber congenital amaurosis due to RPE65 mutations and its treatment with gene therapy

“…Descriptions of donor retinas from patients diagnosed with LCA in the premolecular era show considerable diversity of observation with severe outer retinal degeneration found in some retinas whereas minimal outer retinal abnormalities found in others (Horsten & Winkleman, 1960; Kroll and Kuwabara, 1964; Mizuno et al, 1977; Noble and Carr, 1978). In retrospect, these findings are not inconsistent with what is now known to be a diversity of molecular causes for LCA (den Hollander et al, 2008).…”

Ultrastructural, Histochemical, Cytological Study of Retina of Aborted Fetus of Various Weeks of Gestation – an Anatomical Perspective with Implications on Patients with Retinitis Pigmentosa

“…Whorls are probably either the product of incomplete phagocytosis by RPE cells or damaged outer segments of photoreceptor cells. However, melanolysosomes, which are present in RPE cells in the fovea and perifoveal region, can be a future predictor of autosomal dominant RP (13) or leber congenital amaurosis (14). Autophagic vacuoles in cone cells are meant for autodigestion and reflect the degradation process within the cone cells, but they can be found in normal photoreceptor cells (15) as well as following ischaemic events (16).…”

An unusual retinal vascular morphology in connection with a novel AIPL1 mutation in Leber's congenital amaurosis

“…14 Late in the course of the disease, full thickness retinal and choroidal atrophy are present and the morphology is similar to that seen in retinitis pigmentosa. 15 The retinal vessels show hyalinisation, 15 16 which was only observed in the anterior, atrophic retinal areas of our case. Focal hyalinisation of the choriocapillaris has also been observed, 16 but was absent in the present case.…”

Leber congenital amaurosis due to RPE65 mutations and its treatment with gene therapy

“…Descriptions of donor retinas from patients diagnosed with LCA in the premolecular era show considerable diversity of observation with severe outer retinal degeneration found in some retinas whereas minimal outer retinal abnormalities found in others (Horsten & Winkleman, 1960; Kroll and Kuwabara, 1964; Mizuno et al, 1977; Noble and Carr, 1978). In retrospect, these findings are not inconsistent with what is now known to be a diversity of molecular causes for LCA (den Hollander et al, 2008).…”

Ultrastructural, Histochemical, Cytological Study of Retina of Aborted Fetus of Various Weeks of Gestation – an Anatomical Perspective with Implications on Patients with Retinitis Pigmentosa

“…Whorls are probably either the product of incomplete phagocytosis by RPE cells or damaged outer segments of photoreceptor cells. However, melanolysosomes, which are present in RPE cells in the fovea and perifoveal region, can be a future predictor of autosomal dominant RP (13) or leber congenital amaurosis (14). Autophagic vacuoles in cone cells are meant for autodigestion and reflect the degradation process within the cone cells, but they can be found in normal photoreceptor cells (15) as well as following ischaemic events (16).…”