Angioid Streaks in a Patient With Hemochromatosis and Secondary Porphyria Cutanea Tarda

Pulido, José S.; Donaldson, Mark J.; Kitzmann, Anna S.; Skorin, Leonid; Buettner, Helmut

doi:10.1097/01.iae.0000231365.48293.a2

Cited by 2 publications

(2 citation statements)

References 5 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Hence, with an estimated carrier frequency in the general population of 1:30–1:200 [ 32 ], we can speculate that at least in some patients, the retinal disease is driven by increased soft tissue calcification due to ABCC6 dysfunction. Furthermore, some patients with hemochromatosis were previously reported with angioid-like streaks [ 33 , 34 ]. For this reason, we cannot exclude the possibility that some of the patients in our series were affected by subclinical hemochromatosis.…”

Section: Discussionmentioning

confidence: 99%

Subclinical Angioid Streaks with Pseudodrusen: A New Phenotype of Age-Related Macular Degeneration

et al. 2023

View full text Add to dashboard Cite

Introduction To describe subclinical angioid streaks (AS) as a frequent, peculiar age-related macular degeneration (AMD) phenotype, comparing features of eyes with subclinical AS with those of eyes with AMD without AS. Methods This was a retrospective, observational study. Among a patient cohort with AMD, we selected patients without known causes for AS whose eyes showed signs of angioid streaks (AS) on structural optical coherence tomography (OCT) but not on fundus examination. Selected OCT features of AS were Bruch’s membrane (BM) breaks and large BM dehiscences. Results Among 543 eyes of 274 patients with AMD (mean ± standard deviation: 82 ± 7 years), 73 eyes of 46 patients (81 ± 7 years; p = 0.432) showed AS features on OCT (OCT AS) that were not visible on fundus examination. Estimated prevalence of subclinical age-related AS was 13.4% (95% confidence interval 10.3–16.3%) in this AMD population. Fifty-three eyes (73%) with AS features were affected by peripapillary atrophy, often with a “petaloid-like” pattern, similar to typical features of AS disease. Almost all cases (97%) presented reticular pseudodrusen (RPD), with (41%) or without (59%) drusen showing a significant difference in RPD prevalence in OCT AS eyes in comparison to AMD eyes without subclinical AS using generalized estimating equations ( P < 0.001). Among the 73 subclinical AS cases, 71 were affected by late AMD (57 with macular neovascularization, 14 with geographic atrophy), showing a more advanced AMD stage in comparison with AMD eyes without subclinical AS ( P < 0.001). The following OCT features were disclosed: BM breaks in 100% of cases and BM dehiscences in 37%. Conclusions Subclinical AS in eyes with AMD is a peculiar phenotype of the disease, with features suggesting a primary involvement of Bruch’s membrane and clinical similarities with mild, late-onset pseudoxanthoma elasticum.

show abstract

Section: Discussionmentioning

confidence: 99%

Subclinical Angioid Streaks with Pseudodrusen: A New Phenotype of Age-Related Macular Degeneration

et al. 2023

View full text Add to dashboard Cite

show abstract

“…As early as 1968, it was suggested that the breakdown of BrM may be a primary pathology in pseudoxanthoma elasticum, whereas in other conditions associated with angioid streaks, BrM breaks may be the result of secondary degeneration. 26,29 Generalized RPE degeneration, calcified BrM, and subretinal macrophage infiltration have been identified in Best disease and in angioid streaks. [30][31][32][33] Thus, within the RPE/BrM complex, RPE degeneration and BrM remodeling are common pathologic processes in both disorders.…”

Section: Discussionmentioning

confidence: 99%

Adult-Onset Best1-Vitelliform Dystrophy Associated With Angioid Streak-Like Changes in Two Siblings

Bracha

Alemán

et al. 2023

RETINAL Cases &Amp; Brief Reports

View full text Add to dashboard Cite

show abstract

Angioid Streaks in a Patient With Hemochromatosis and Secondary Porphyria Cutanea Tarda

Abstract: In patients with angioid-like streaks, there should be consideration of hemochromatosis as a possible cause.

Cited by 2 publications

References 5 publications

Subclinical Angioid Streaks with Pseudodrusen: A New Phenotype of Age-Related Macular Degeneration

Subclinical Angioid Streaks with Pseudodrusen: A New Phenotype of Age-Related Macular Degeneration

Adult-Onset Best1-Vitelliform Dystrophy Associated With Angioid Streak-Like Changes in Two Siblings

Contact Info

Product

Resources

About