Genetic Risk Factors for Radiation Vasculopathy

Papakostas, Thanos D.; Morrison, Margaux A.; Lane, Anne Marie; Awh, Caroline; DeAngelis, Margaret M.; Gragoudas, Evangelos S.; Kim, Ivana K.

doi:10.1167/iovs.17-22791

Cited by 5 publications

(4 citation statements)

References 28 publications

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“…Gene CHD7 was implicated in two unrelated probands. We performed literature curation for each of the genes in Table 2 and found evidence that each is involved in eye development (Bergman et al, 2012; Du et al, 2015; Ergun, Akay, Ergun, & Percin, 2017; Li, Jin, & Zhong, 2019; Meijer, 1993; Papakostas et al, 2018). For example, LRP5 , NUMA1 and TUBGCP3 have been identified to be involved in retinal development and KRT31 to be involved with eye morphological alterations (Du et al, 2015; Ergun et al, 2017; Li et al, 2019).…”

Section: Resultsmentioning

confidence: 99%

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Exome sequencing identifies genetic variants in anophthalmia and microphthalmia

Li,

Yang,

Wang

et al. 2022

American J of Med Genetics Pt A

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Anophthalmia and microphthalmia (A/M) are rare birth defects affecting up to 2 per 10,000 live births. These conditions are manifested by the absence of an eye or reduced eye volumes within the orbit leading to vision loss. Although clinical case series suggest a strong genetic component in A/M, few systematic investigations have been conducted on potential genetic contributions owing to low population prevalence. To overcome this challenge, we utilized DNA samples and data collected as part of the National Birth Defects Prevention Study (NBDPS). The NBDPS employed multi-center ascertainment of infants affected by A/M. We performed exome sequencing on 67 family trios and identified numerous genes affected by rare deleterious nonsense and missense variants in this cohort, including de novo variants. We identified 9 nonsense changes and 86 missense variants that are absent from the reference human population (Genome Aggregation Database), and we suggest that these are high priority candidate genes for A/M. We also performed literature curation, single cell transcriptome comparisons, and molecular pathway analysis on the candidate genes and performed protein structure modeling to determine the potential pathogenic variant consequences on PAX6 in this disease.

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Section: Resultsmentioning

confidence: 99%

“…and found evidence that each is involved in eye development(Bergman et al, 2012;Du et al, 2015;Ergun, Akay, Ergun, & Percin, 2017;Li, Jin, & Zhong, 2019;Meijer, 1993;Papakostas et al, 2018). For example, LRP5, NUMA1 and TUBGCP3 have been identified to be involved in retinal development and KRT31 to be…”

mentioning

confidence: 99%

Exome sequencing identifies genetic variants in anophthalmia and microphthalmia

Li,

Yang,

Wang

et al. 2022

American J of Med Genetics Pt A

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“…However, identifying the predictors for developing ORV would aid in the process of prevention and would allow for more cautious monitoring [23]. There are possible genetic factors that could help clinicians predict part of that association, and these are currently under investigation [26].…”

Section: Discussionmentioning

confidence: 99%

Occlusive radiation cerebral vasculopathy implies medical complexity: a case report

et al. 2019

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Background Cranial irradiation is one of the main treatment modalities for central nervous system tumors. It carries many complications, one being occlusive radiation vasculopathy of large vessels. It is an underrecognized etiology for stroke, especially in the younger population. The pathophysiological process is controversial, but there is much literature supporting the theory of its being a secondary form of moyamoya disease. Case presentation A 31-year-old Caucasian man with a history of pineal blastoma at the age of 3 years, which was treated with resection, radiotherapy, and chemotherapy, presented to our institution with right M1 stroke. Further assessment by computed tomographic perfusion study with acetazolamide demonstrated steal phenomenon of the right middle cerebral artery territory (type III response) with a small internal region of matched cerebral blood volume defect (that is, infarct core). Coincidentally, he was found to have multiple brain masses consistent with meningiomas. Occlusive radiation vasculopathy was the most likely culprit of the patient’s stroke. The patient was treated medically with “baby” acetylsalicylic acid and clopidogrel for 3 months, then continued only on baby acetylsalicylic acid. Conclusion Late-onset occlusive radiation vasculopathy is a potentially severe iatrogenic manifestation of radiotherapy that requires a high index of suspicion as an etiology of stroke in young population, especially those with coexistent meningioma that might be a strong indicator for occlusive radiation vasculopathy as the stroke culprit. We reviewed the available literature to better understand the pathogenesis, clinical presentation, and treatment options of occlusive radiation vasculopathy. Applying perfusion studies with acetazolamide measures the cerebrovascular reserve in patients with occlusive radiation vasculopathy, which could help in determining the appropriate available treatment option.

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“…The COMS identified the following as risk factors for vision loss: increased tumor thickness, a tumor that is not dome-shaped, tumor location near to or at the level of the macula, and secondary retinal detachment [12]. Other factors related to decreased vision are hypertension, age, reduced VA at diagnosis, tumor height, and largest basal diameter, tumor distance from the fovea and the optic nerve, ciliary body involvement, retinal invasion, extraocular invasion, posterior tumor location, radiation dose, and length of the optic nerve irradiated [8,20,34,70].…”

Section: Decrease In Visual Acuitymentioning

confidence: 99%

Ocular Complications of Radiotherapy in Uveal Melanoma

Zemba

Dumitrescu²,

Gheorghe

et al. 2023

Cancers

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Uveal melanoma is the most common primary malignant intraocular tumor in adults. Radiation therapy has replaced enucleation and is now the preferred treatment in most cases. Nonetheless, around 70% of patients develop radiation-related complications, some of which are vision-threatening. The objective of this review is to present the most important complications associated with radiotherapy in the treatment of uveal melanoma and their pathogenesis, incidence, risk factors, and available preventive and therapeutic measures. The most common complications are cataracts, with a reported incidence ranging from 4% to 69%, and radiation retinopathy, reported in 5–68% of cases. Radiation-related complications are responsible for approximately half of secondary enucleations, the leading cause being neovascular glaucoma. A poor visual outcome is mainly associated with the presence of radiation retinopathy and radiation optic neuropathy. Therapeutic options are available for the majority of complications with the notable exception of optic neuropathy. However, many studies report a final visual acuity of less than 20/200 in more than 60% of treated eyes. Reducing complication rates can be achieved by lowering the dose of radiation, with the use of eccentric, customized plaques and careful planning of the irradiation delivery in order to protect structures vital to vision and by associating radiation therapy with other methods with the aim of reducing tumor volume.

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Genetic Risk Factors for Radiation Vasculopathy

Cited by 5 publications

References 28 publications

Exome sequencing identifies genetic variants in anophthalmia and microphthalmia

Exome sequencing identifies genetic variants in anophthalmia and microphthalmia

Occlusive radiation cerebral vasculopathy implies medical complexity: a case report

Ocular Complications of Radiotherapy in Uveal Melanoma

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