Abstract:A 64-year-old hypertensive woman presented with complaints of a painless, progressive decrease in vision, headache, dizziness for the last month. She was a known case of diabetes mellitus on insulin therapy. On examination, best-corrected visual acuity was 6/12 in the right eye and 6/18 in the left eye. The fundus examination in both eyes revealed features of grade IV hypertensive retinopathy. Systemic examination revealed the raised blood pressure of 200/110 mm Hg. Diagnosis of pheochromocytoma was made on th… Show more
“…The retrospective recognition of symptoms, in this case, is commonplace ( 7 ). PC presenting as visual loss has been described previously and highlights the importance of multi-disciplinary engagement in management of these rare tumours ( 9 ).…”
Section: Discussionmentioning
confidence: 60%
“…NGS is more efficient from a time and cost perspective than the now outdated Sanger sequencing but results in a larger data output and a greater workload detangling the pathogenicity of novel variants and variants of unknown significance ( 2 , 3 , 4 ). Figure 6 Standards and guidelines for the interpretation of sequence variants: American College of Medical Genetics and Genomics and the Association for Molecular Pathology ( 9 ). …”
Section: Discussionmentioning
confidence: 99%
“…Figure 6Standards and guidelines for the interpretation of sequence variants: American College of Medical Genetics and Genomics and the Association for Molecular Pathology(9).…”
Summary
A 53-year-old female presented to a tertiary ophthalmology referral centre complaining of unilateral painless loss of vision. Subsequent assessment revealed malignant hypertension causing right-sided cystoid macular oedema. During the course of secondary hypertension workup, she was diagnosed with a 7.8 cm phaeochromocytoma which was resected. Testing for a panel of all predisposing phaeochromocytoma-causing variants using next-generation sequencing resulted in the diagnosis of a novel SDHD variant.
Learning points
Screening for secondary causes of hypertension is indicated when there is evidence of hypertension-mediated end-organ damage (1).
Testing for a predisposing variant should be considered in all patients with phaeochromocytoma or paraganglioma due to the high heritability rate and prevalence of somatic variants (2, 3, 4).
Novel variants are commonly uncovered in the Succinate Dehydrogenase (SDH) subunit; proving pathogenicity is a complex, time-consuming process and one challenge of next-generation sequencing (3).
SDHB immunohistochemistry as a tool for demonstrating pathogenicity is associated with reduced sensitivity when assessing SDHD variants (5, 6).
“…The retrospective recognition of symptoms, in this case, is commonplace ( 7 ). PC presenting as visual loss has been described previously and highlights the importance of multi-disciplinary engagement in management of these rare tumours ( 9 ).…”
Section: Discussionmentioning
confidence: 60%
“…NGS is more efficient from a time and cost perspective than the now outdated Sanger sequencing but results in a larger data output and a greater workload detangling the pathogenicity of novel variants and variants of unknown significance ( 2 , 3 , 4 ). Figure 6 Standards and guidelines for the interpretation of sequence variants: American College of Medical Genetics and Genomics and the Association for Molecular Pathology ( 9 ). …”
Section: Discussionmentioning
confidence: 99%
“…Figure 6Standards and guidelines for the interpretation of sequence variants: American College of Medical Genetics and Genomics and the Association for Molecular Pathology(9).…”
Summary
A 53-year-old female presented to a tertiary ophthalmology referral centre complaining of unilateral painless loss of vision. Subsequent assessment revealed malignant hypertension causing right-sided cystoid macular oedema. During the course of secondary hypertension workup, she was diagnosed with a 7.8 cm phaeochromocytoma which was resected. Testing for a panel of all predisposing phaeochromocytoma-causing variants using next-generation sequencing resulted in the diagnosis of a novel SDHD variant.
Learning points
Screening for secondary causes of hypertension is indicated when there is evidence of hypertension-mediated end-organ damage (1).
Testing for a predisposing variant should be considered in all patients with phaeochromocytoma or paraganglioma due to the high heritability rate and prevalence of somatic variants (2, 3, 4).
Novel variants are commonly uncovered in the Succinate Dehydrogenase (SDH) subunit; proving pathogenicity is a complex, time-consuming process and one challenge of next-generation sequencing (3).
SDHB immunohistochemistry as a tool for demonstrating pathogenicity is associated with reduced sensitivity when assessing SDHD variants (5, 6).
“…At present, the diagnosis of HR is mainly limited to fundus examination, and there is still a lack of relevant research on the effect of HR-induced cerebral functional activities. Severe HR patients may experience headache and significant loss of vision [ 28 ]. As DC is an important method to study the changes of cerebral functional activity, it has the advantages of non-invasiveness and convenience, and it is one of the important technologies to apply DC method to study the changes of cerebral functional activity in HR patients.…”
This study investigated functional alterations in the cerebral network of patients with hypertensive retinopathy (HR) by resting-state functional magnetic resonance imaging (rs-fMRI) and degree centrality (DC) methods. 31 patients with HR along with 31 healthy controls (HC) closely matched in gender and age were enrolled for the research. All participants were examined by rs-fMRI, and the DC method was applied to evaluate alterations in spontaneous cerebral activity between the 2 groups. We used the independent samples
t
test to evaluate demographic and general information differences between HR patients and HCs. The 2-sample
t
test was used to compare the DC values of different cerebral regions between the 2 groups. The accuracy of differential diagnostic HR was analyzed by receiver operating characteristic (ROC) curve method for rs-fMRI DC values changes. Pearson’s correlation coefficient was applied to determine the correlation between differences in DC in specific cerebral areas and clinical manifestation. Results showed that DC values were higher in the left cerebellum posterior lobe (LCPL), left medial occipital gyrus (LMOG), and bilateral precuneus (BP) of HR patients compared to HCs. Mean DC values were lower in the right medial frontal gyrus/bilateral anterior cingulate cortex of HR patients. Anxiety and depression scores were positively correlated with DC values of LMOG and LCPL, respectively. Bilateral best-corrected visual acuity in HR patients was negatively correlated with the DC value of BP. Hence, changes in DC in specific cerebral areas of patients with HR reflect functional alterations that provide insight into the pathophysiologic mechanisms of HR.
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