Bull's eye maculopathy associated with hereditary hemochromatosis

Bellsmith, Kellyn N.; Dunaief, Joshua L.; Yang, Paul; Pennesi, Mark E.; Davis, E. A.; Hofkamp, Holly; Lujan, Brandon J.

doi:10.1016/j.ajoc.2020.100674

Cited by 7 publications

(10 citation statements)

References 22 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Iron is known to play a critical role in the metabolic activities of the retina particularly the RPE and photoreceptors, but also the inner retina. Studies of ocular manifestations of systemic iron loading remain confined to case reports (Hudson, 1953;Davies et al, 1972;Roth and Foos, 1972;Zerbib et al, 2015;Bellsmith et al, 2020), with only one study on cohort of hemochromatosis patients (Menghini et al, 2018). Few studies have systematically assessed retinal function aside from visual acuity.…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Effects of Excess Iron on the Retina: Insights From Clinical Cases and Animal Models of Iron Disorders

et al. 2022

View full text Add to dashboard Cite

Iron plays an important role in a wide range of metabolic pathways that are important for neuronal health. Excessive levels of iron, however, can promote toxicity and cell death. An example of an iron overload disorder is hemochromatosis (HH) which is a genetic disorder of iron metabolism in which the body’s ability to regulate iron absorption is altered, resulting in iron build-up and injury in several organs. The retina was traditionally assumed to be protected from high levels of systemic iron overload by the blood-retina barrier. However, recent data shows that expression of genes that are associated with HH can disrupt retinal iron metabolism. Thus, the effects of iron overload on the retina have become an area of research interest, as excessively high levels of iron are implicated in several retinal disorders, most notably age–related macular degeneration. This review is an effort to highlight risk factors for excessive levels of systemic iron build-up in the retina and its potential impact on the eye health. Information is integrated across clinical and preclinical animal studies to provide insights into the effects of systemic iron loading on the retina.

show abstract

Section: Discussionmentioning

confidence: 99%

“…Electroretinograms demonstrated generalized rod and cone dysfunction with some central preservation of waveforms. There appeared to be no retinopathy progression at 6 month follow-up, after the patient had undergone treatment to normalize his iron levels (Bellsmith et al, 2020).…”

Section: Retinal Changes In Hemochromatosismentioning

confidence: 91%

Effects of Excess Iron on the Retina: Insights From Clinical Cases and Animal Models of Iron Disorders

et al. 2022

View full text Add to dashboard Cite

show abstract

“…[10][11][12][13] Normalization of serum ferritin levels via serial phlebotomy has been shown to halt progression of retinopathy and reduce ocular pigmentation. [14][15][16] However, this is a complicated proposition in patients with anemia such as ours.…”

mentioning

confidence: 86%

“…There is increasing evidence that oxidative damage contributes to four major diseases of the optic nerve: optic neuritis, ischemic optic neuropathy, traumatic optic neuropathy, and glaucoma 10–13 . Normalization of serum ferritin levels via serial phlebotomy has been shown to halt progression of retinopathy and reduce ocular pigmentation 14–16 . However, this is a complicated proposition in patients with anemia such as ours.…”

Section: Figurementioning

confidence: 99%

Optic neuropathy in iron overload and iron chelation therapy

2022

View full text Add to dashboard Cite

show abstract

“…[4]. An important point to emphasize is that morphological changes in the retina are not only related to the toxic effect of deferoxamine mesylate but can also be a result of iron deposition in secondary hemochromatosis and pathophysiological processes in hereditary hemochromatosis that has not been treated with chelating agents [5]. The importance of the HFE gene in regulating the homeostasis of retinal iron was described earlier, and the knockout mouse model has been used to show how iron accumulation may have destructive effects on the retinal pigment epithelium (RPE), causing oxidative stress and damage [6,7].…”

Section: Introductionmentioning

confidence: 99%

Pseudovitelliform Maculopathy Associated with Hereditary Hemochromatosis: Two Case Reports

Vukojević¹,

Vukojević²,

Jukić³

et al. 2023

Preprint

View full text Add to dashboard Cite

Hereditary hemochromatosis (HH) is an inherited iron metabolism disorder. It is caused by an autosomal recessive disorder resulting from a C28Y8 HFE gene mutation. Mutations in the HFE gene may result in iron accumulation and oxidative stress in the retina, resulting in macular degeneration. This article describes two patients with HH who developed vision difficulties. Both patients were subjected to a retinal exam, multimodal imaging, and electrodiagnostic techniques, which revealed structural and functional degeneration of the central macula. Fundus photography, fluorescein angiography (FA), and fundus autofluorescence (FAF) revealed changes at the level of the retinal pigment epithelium (RPE) in the center of the macula, while optical coherence tomography (OCT) revealed subfoveal accumulation of hyperreflective material at and below the RPE. The multifocal electroretinogram (mfERG) confirmed a decreased cone response, whereas the full-field electroretinogram (ERG) revealed no pathological findings. In addition, patients underwent genetic testing, which ruled out the possibility of hereditary macular dystrophy. Considering macula findings and the nature of the patients' primary illness, we believe that the higher concentration and accumulation of iron and photoreceptor metabolic products have led to dysfunction in the RPE, which has led to morphological and functional changes in the macula.

show abstract

Bull's eye maculopathy associated with hereditary hemochromatosis

Cited by 7 publications

References 22 publications

Effects of Excess Iron on the Retina: Insights From Clinical Cases and Animal Models of Iron Disorders

Effects of Excess Iron on the Retina: Insights From Clinical Cases and Animal Models of Iron Disorders

Optic neuropathy in iron overload and iron chelation therapy

Pseudovitelliform Maculopathy Associated with Hereditary Hemochromatosis: Two Case Reports

Contact Info

Product

Resources

About