The Extent of Angioid Streaks Correlates With Macular Degeneration in Pseudoxanthoma Elasticum

Risseeuw, Sara; Norel, Jeannette Ossewaarde – van; Buchem, Colette van; Spiering, Wilko; Imhof, Saskia M.; Leeuwen, Redmer van

doi:10.1016/j.ajo.2020.07.022

Cited by 20 publications

(14 citation statements)

References 31 publications

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“…Angioid streaks (AS) ( Figure 4 A and Figure 5 A) were present in 92.5% of patients but were not detected in younger PXE patients, as reported in other studies [ 11 ]; however, they were also present in two patients (24 and 31 years old) who presented only peau d’orange or peau d’orange and comet lesions, respectively ( Table S3 ). Moreover, in 15 out of 53 patients, AS involved the fovea.…”

Section: Resultssupporting

confidence: 74%

“…In particular, coquille d’oeuf represents a risk of atrophy over time; comet lesions, with or without a comet tail, are considered the only pathognomonic manifestation of PXE [ 79 ], and they have a significant diagnostic value, especially in younger PXE subjects where angioid streaks are not always already developed and detectable [ 65 ]. Moreover, as recently suggested [ 11 ], patients over 50 may require a different approach to better visualize the severity of the disease and atrophy, and pattern dystrophy-like changes should be taken into consideration to better evaluate disease progression and to improve PXE patients’ counselling in order to enable better decision making in clinical practice.…”

Section: Discussionmentioning

confidence: 99%

“…In PXE, calcification of the Bruch’s membrane leads to the typical ocular alterations, usually described as peau d’orange , that generally precede angioid streaks [ 8 , 9 ]. Over the course of the disease, almost all PXE patients develop angioid streaks and choroidal neovascularization (CNV), which are responsible for progressive decreased central visual acuity and can lead to legal blindness [ 10 , 11 ].…”

Section: Introductionmentioning

confidence: 99%

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Phenotypic Features and Genetic Findings in a Cohort of Italian Pseudoxanthoma Elasticum Patients and Update of the Ophthalmologic Evaluation Score

Boraldi

Murro

Lofaro

et al. 2021

JCM

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Background: Pseudoxanthoma elasticum (PXE) is a rare ectopic calcification genetic disease mainly caused by ABCC6 rare sequence variants. The clinical phenotype is characterized by typical dermatological, ophthalmological and cardiovascular manifestations, whose frequency and severity are differently reported in the literature. Methods: A retrospective study was performed on 377 PXE patients of Italian origin, clinically evaluated according to the Phenodex Index, who underwent ABCC6 biomolecular analyses. Moreover, 53 PXE patients were further characterized by in-depth ophthalmological examinations. Results: A total of 117 different ABCC6 rare sequence variants were detected as being spread through the whole gene. The severity of the clinical phenotype was dependent on age, but it was not influenced by gender or by the type of sequence variants. In-depth ophthalmological examinations focused on the incidences of coquille d’oeuf, comet lesions, pattern dystrophy-like lesions, optic disk drusen and posterior-pole atrophy. Conclusion: Given the large number of patients analyzed, we were able to better evaluate the occurrence of less frequent alterations (e.g., stroke, myocardial infarction, nephrolithiasis). A more detailed description of ophthalmological abnormalities allowed us to stratify patients and better evaluate disease progression, thus suggesting a further update of the PXE score system.

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Section: Resultssupporting

confidence: 74%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Phenotypic Features and Genetic Findings in a Cohort of Italian Pseudoxanthoma Elasticum Patients and Update of the Ophthalmologic Evaluation Score

Boraldi

Murro

Lofaro

et al. 2021

JCM

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“…additional models excluding patients with a VUS were built. The length of angioid streaks mainly varies in patients younger than 50 years and appears static in patients older than 50 years [23]. Therefore, we performed a subgroup analysis in patients younger than 50 years for the length of angioid streaks.…”

Section: Discussionmentioning

confidence: 99%

Genotype-phenotype correlation in pseudoxanthoma elasticum

et al. 2021

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Background and aims: Pseudoxanthoma elasticum (PXE) is caused by variants in the ABCC6 gene. It results in calcification in the skin, peripheral arteries and the eyes, but has considerable phenotypic variability. We investigated the association between the ABCC6 genotype and calcification and clinical phenotypes in these different organs. Methods: ABCC6 sequencing was performed in 289 PXE patients. Genotypes were grouped as two truncating, mixed, or two non-truncating variants. Arterial calcification mass was quantified on whole body, low dose CT scans; and peripheral arterial disease was measured with the ankle brachial index after treadmill test. The presence of pseudoxanthoma in the skin was systematically scored. Ophthalmological phenotypes were the length of angioid streaks as a measure of Bruchs membrane calcification, the presence of choroidal neovascularizations, severity of macular atrophy and visual acuity. Regression models were built to test the age and sex adjusted genotype-phenotype association. Results: 158 patients (median age 51 years) had two truncating variants, 96 (median age 54 years) a mixed genotype, 18 (median age 47 years) had two non-truncating variants. The mixed genotype was associated with lower peripheral (β: 0.39, 95%CI:-0.62;-0.17) and total (β: 0.28, 95%CI:-0.47;-0.10) arterial calcification mass scores, and lower prevalence of choroidal neovascularizations (OR: 0.41 95%CI:0.20; 0.83) compared to two truncating variants. No association with pseudoxanthomas was found. Conclusions: PXE patients with a mixed genotype have less severe arterial and ophthalmological phenotypes than patients with two truncating variants in the ABCC6 gene. Research into environmental and genetic modifiers might provide further insights into the unexplained phenotypic variability.

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“…AS are representative accompaniment of PXE, with an approximate incidence rate ranging from 1/100,000 to 1/20,000; the critical age range with the highest frequency of the condition is between 20 and 30 years [ 18 ]. AS represent radial streaks with a red, brown, or grey color, emitted from the optic disc to the equatorial boundary of both eyes [ 18 , 19 ]; they have similar lengths in both eyes and elongate progressively with age [ 20 ]. The main pathology of AS is the calcification and fracture of Bruch’s membrane (BM).…”

Section: Discussionmentioning

confidence: 99%

A case report: pseudoxanthoma elasticum diagnosed based on ocular angioid streaks and the curative effect of Conbercept treatment

et al. 2021

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Background This article is a case report of pseudoxanthoma elasticum (PXE) which was diagnosed based on significant angioid streaks (AS) with choroidal neovascularization (CNV) and regain normal visual function by intravitreal injection with Conbercept. Case presentation A 51-year-old woman was referred to the Ophthalmology Department of Qingdao Municipal Hospital (Qingdao, China) on September 14, 2020 for metamorphopsia and loss of vision in the left eye in the preceding three days. Past history: high myopia for more than 30 years, best corrected visual acuity (BCVA) of both eyes was 1.0 (5 m Standard Logarithm Visual Acuity chart in decimal notations), hypertension for six years, and cerebral infarction two years ago, no history of ocular trauma or surgeries or similar patients in family was documented. We used methods for observation, including fundus examination, optical coherence tomography (OCT), fluorescein angiography combined with indocyanine green angiography (FFA + ICGA). Due to her symptoms and manifestations, along with the appearance of her neck skin, which resembled ‘chicken skin’, we speculated that she should be further examined at the Department of Dermatology by tissue paraffin section and molecular pathology analyses, and the diagnosis of PXE was then confirmed. After intravitreal injection with Conbercept (10 mg/ml, 0.2 ml, Chengdu Kanghong Biotechnologies Co., Ltd.; Chengdu, Sichuan, China) she regained her BCVA. Conclusions This patient regained her best corrected visual acuity through intravitreal injection with Conbercept. To the best of our knowledge, no publications are available on cases in which a vision loss and the normal visual function can be reverted by intravitreal injection with Conbercept. Although PXE is a disease with low incidence and thus no effective cure established, targeted symptomatic treatment can effectively retard the disease progression and improve visual function, such as intravitreal injection with Conbercept.

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The Extent of Angioid Streaks Correlates With Macular Degeneration in Pseudoxanthoma Elasticum

Cited by 20 publications

References 31 publications

Phenotypic Features and Genetic Findings in a Cohort of Italian Pseudoxanthoma Elasticum Patients and Update of the Ophthalmologic Evaluation Score

Phenotypic Features and Genetic Findings in a Cohort of Italian Pseudoxanthoma Elasticum Patients and Update of the Ophthalmologic Evaluation Score

Genotype-phenotype correlation in pseudoxanthoma elasticum

A case report: pseudoxanthoma elasticum diagnosed based on ocular angioid streaks and the curative effect of Conbercept treatment

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