Retinal abnormalities in β-thalassemia major

Dunaief, Joshua L.

doi:10.1016/j.survophthal.2015.08.005

Cited by 26 publications

(18 citation statements)

References 100 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…These effects can be seen in various parts of the patients' bodies, including the retina. Some of these changes have already been identified by other authors 12, 13. Although the mechanism of the manifestations in these diseases seems different, vascular changes can be seen in both of them.…”

Section: Discussionmentioning

confidence: 58%

“…In the study by Şimşek et al., choroidal thickness in children with B-TM was found to be thinner than in control patients 6 . Retinal abnormalities of this disease were separated by the authors into two groups: pseudoxanthoma elasticum (PXE)-like abnormalities and non-PXE-like abnormalities 13 . PXE is characterized by calcium mineralization of elastin, and similar ocular manifestations have been demonstrated by previous studies in B-TM and PXE 22 .…”

Section: Discussionmentioning

confidence: 67%

“…To the best of our knowledge, there have been no previous studies that evaluated GCC in patients with B-TM. However, it has been previously reported, that chelator-related retinopathy primarily affects the RPE layer 13 . Therefore, the GCC layer of the retina may be affected due to the disease's ischemic potential.…”

Section: Discussionmentioning

confidence: 98%

See 2 more Smart Citations

Spectral domain optical coherence tomography findings in Turkish sickle-cell disease and beta thalassemia major patients

Ulusoy¹,

Türk

Kıvanç

2019

Journal of Current Ophthalmology

View full text Add to dashboard Cite

PurposeTo assess probable structural changes using spectral domain optical coherence tomography (SD-OCT) on sickle-cell disease (SCD) and beta thalassemia major (B-TM) patients, without any retinal abnormalities.MethodsThis cross-sectional study included 32 B-TM, 34 SCD patients, and 44 healthy controls. One of the eyes of all participants was evaluated for SD-OCT and choroidal thickness, retinal nerve fiber layer (RNFL) thickness, central macular thickness (CMT), ganglion cell complex (GCC).ResultsAge, gender, and intraocular pressure (IOP) were not statistically different between the three groups. Hemoglobin (Hgb), hematocrite (Htc), and ferritin levels were not statistically different between the SCD and B-TM groups. Choroidal thickness at the subfoveal region was statistically higher in the control group (353.79 ± 71.93) than in the B-TM (317.41 ± 53.44) and SCD (283.21 ± 63.27) groups. In addition, it was statistically higher in the B-TM group than the SCD group (P = 0.05). CMT did not differ among the three groups, average RNFL was only significantly thinner in SCD than in controls, and GCC thickness was significantly thinner in SCD than in controls and B-TM.ConclusionIn both diseases, we can show early structural changes even if proliferative or non-proliferative retinopathy or other ocular manifestations were not developed yet.

show abstract

Section: Discussionmentioning

confidence: 58%

Section: Discussionmentioning

confidence: 67%

See 1 more Smart Citation

Spectral domain optical coherence tomography findings in Turkish sickle-cell disease and beta thalassemia major patients

Ulusoy¹,

Türk

Kıvanç

2019

Journal of Current Ophthalmology

View full text Add to dashboard Cite

show abstract

“…Fe excess or dysregulation in the eye is toxic to photoreceptors and RPE when introduced to the vitreous by a foreign object (for example, in patients with siderosis), or when it accumulates in the RPE in aceruloplasminemia due to mutations in the Fe exporter ceruloplasmin ( 2 , 3 ). RPE cells are also a target of retinopathy associated with β-thalassemia, an autosomal recessive hemoglobinopathy requiring blood transfusions for survival ( 4 ). Fe accumulates in RPE with age-related macular degeneration (AMD) ( 5 , 6 ).…”

mentioning

confidence: 99%

Iron promotes oxidative cell death caused by bisretinoids of retina

Ueda

Kim

Zhao

et al. 2018

Proc. Natl. Acad. Sci. U.S.A.

Self Cite

View full text Add to dashboard Cite

SignificanceCells are subject to metabolic sources of oxidizing species and to the need to regulate Fe, a redox-active metal. Retinal pigment epithelial (RPE) cells have to contend with an additional, unique source of oxidative stress: photooxidative insult from bisretinoids that accumulate as lipofuscin. Here we report that Fe can interact with bisretinoids in RPE to promote cell damage. These findings inform disease processes in both Fe-related and bisretinoid-associated retinal degeneration. The link between Fe and bisretinoid oxidation also highlights opportunities for repurposed and combination therapies. This could include visual cycle inhibitors as a treatment for maculopathy associated with elevated retinal Fe, and Fe chelation to aid in suppressing the damaging effects of bisretinoids in juvenile and age-related macular degeneration.

show abstract

“…Since these patients have iron overload, chelation therapy and intraocular hemorrhage, it is difficult to separate the effects of each of these on the retina. Nevertheless, several patients with thalassemia exhibited retinopathy in the absence of any iron chelation [62].…”

Section: Retinal Degeneration Resulting From Iron Dysregulationmentioning

confidence: 99%

Potential Treatment of Retinal Diseases with Iron Chelators

Shu

Dunaief

2018

Pharmaceuticals

View full text Add to dashboard Cite

Iron is essential for life, while excess iron can be toxic. Iron generates hydroxyl radical, which is the most reactive free radical, causing oxidative stress. Since iron is absorbed through the diet but not excreted from the body, it accumulates with age in tissues, including the retina, consequently leading to age-related toxicity. This accumulation is further promoted by inflammation. Hereditary diseases such as aceruloplasminemia, Friedreich’s ataxia, pantothenate kinase-associated neurodegeneration, and posterior column ataxia with retinitis pigmentosa involve retinal degeneration associated with iron dysregulation. In addition to hereditary causes, dietary or parenteral iron supplementation has been recently reported to elevate iron levels in the retinal pigment epithelium (RPE) and promote retinal degeneration. Ocular siderosis from intraocular foreign bodies or subretinal hemorrhage can also lead to retinopathy. Evidence from mice and humans suggests that iron toxicity may contribute to age-related macular degeneration pathogenesis. Iron chelators can protect photoreceptors and RPE in various mouse models. The therapeutic potential for iron chelators is under investigation.

show abstract

Retinal abnormalities in β-thalassemia major

Cited by 26 publications

References 100 publications

Spectral domain optical coherence tomography findings in Turkish sickle-cell disease and beta thalassemia major patients

Spectral domain optical coherence tomography findings in Turkish sickle-cell disease and beta thalassemia major patients

Iron promotes oxidative cell death caused by bisretinoids of retina

Potential Treatment of Retinal Diseases with Iron Chelators

Contact Info

Product

Resources

About