Evolution of the retinal black sunburst in sickling haemoglobinopathies.

Asdourian, George K.; Nagpal, Krishan C.; Goldbaum, Michael H.; Patrianakos, Dimitrios; Rabb, Maurice F.

doi:10.1136/bjo.59.12.710

Cited by 40 publications

(2 citation statements)

References 5 publications

(1 reference statement)

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“…18,38,44 Finally, SS mice differ from humans with sickle cell disease in showing early rapid retinal degeneration with nearly complete loss of the outer retinal layers, rather than the retinopathy typical of humans with sickle cell disease. [45][46][47][48][49] This was a striking incidental finding, which also has been reported in the FVB mouse strain (one of the parental strains of the Berkeley SS mouse) and is most likely caused by the homozygous mutation we identified in a retinal phosphodiesterase gene (rd1 genotype, PDEGF; 180072; 4p16.3). 8,9,10 In unpublished studies by one of us (G.A.L., August 2005), approximately 25% of SS mice and 50% of hemizygous mice derived from another subcolony of Berkeley mice did not demonstrate retinal degeneration; these mice were heterozygous for the rd1 mutation.…”

Section: Discussionsupporting

confidence: 54%

Pathology of Berkeley sickle cell mice: similarities and differences with human sickle cell disease

Manci

Hillery

Bodian

et al. 2006

Blood

123

155

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Because Berkeley sickle cell mice are used as an animal model for human sickle cell disease, we investigated the progression of the histopathology in these animals over 6 months and compared these findings to those published in humans with sickle cell disease. The murine study groups were composed of wild-type mixed C57Bl/6-SV129 (control) mice and sickle cell (SS) mice (␣ ؊/؊ , ␤ ؊/؊ , transgene ؉) of both sexes and between 1 and 6 months of age. SS mice were similar to humans with sickle cell disease in having erythrocytic sickling, vascular ectasia, intravascular hemolysis, exuberant hematopoiesis, cardiomegaly, glomerulosclerosis, visceral congestion, hemorrhages, multiorgan infarcts, pyknotic neurons, and progressive siderosis. Cerebral perfusion studies demonstrated increased blood-brain barrier permeability in SS mice. SS mice differed from humans with sickle cell disease in having splenomegaly, splenic hematopoiesis, more severe hepatic infarcts, less severe pulmonary manifestations, no significant vascular intimal hyperplasia, and only a trend toward vascular medial hypertrophy. Early retinal degeneration caused by a homozygous mutation (rd1) independent from that causing sickle hemoglobin was an incidental finding in some Berkeley mice. While our study reinforces the fundamental strength of this model, the notable differences warrant careful consideration when drawing parallels to human sickle cell disease. (Blood. 2006;107: 1651-1658)

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Section: Discussionsupporting

confidence: 54%

Pathology of Berkeley sickle cell mice: similarities and differences with human sickle cell disease

Manci

Hillery

Bodian

et al. 2006

Blood

123

155

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“…These lesions are thought to be the result of an acute vas cular occlusion of the retina, leading to deep retinal hemorrhage near the RPE. Hypertro phy of the RPE would come about due to its irritation by blood in resorption and the peripheral hypochromic zone would be the result of the retinal ischemia and rarefaction of the adjacent RPE [21]. One proof that these lesions were caused by a vascular obstruction is the presence of anomalous ves sels in their proximity ( fig.…”

Section: Discussionmentioning

confidence: 99%

Funduscopic Alterations in SS and SC Hemoglobinopathies

Bonanomi

Cunha²,

Araújo³

1988

Ophthalmologica

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Fundus changes in sickle cell disease are well studied and documented according to their clinical and angiographic aspects. Sickle cell retinopathy was studied in a Brazilian population of 63 patients (41 with SS hemoglobinopathy, and 22 with SC hemoglobinopathy). All ophthalmoscopic changes observed in our patients were more frequent in the SC group with the exception of atrophic retinal tears, found only in the SS group. Proliferative retinopathy including its complications was seen in 54.54% of the eyes of the SC group, and in only 14.64% of the eyes of the SS group. Decreased vision is consequently greater in the SC group. Despite the great frequency of funduscopic changes in both groups, only 1 patient suffered irreversible visual loss due to retinal detachment operated on without success.

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