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Journal of Clinical Medicine Jun 2024: To assess the frequency, extent, localization and potential progression of optic disc drusen (ODD) and the correlation with the angioid streak (AS) length and retinal...
: To assess the frequency, extent, localization and potential progression of optic disc drusen (ODD) and the correlation with the angioid streak (AS) length and retinal atrophy in patients with pseudoxanthoma elasticum (PXE). : This retrospective study included patient data from a dedicated PXE clinic at the Department of Ophthalmology, University of Bonn, Germany (observation period from February 2008 to July 2023). Two readers evaluated the presence, localization, and the extent of the ODD on fundus autofluorescence (FAF) imaging at baseline and the follow-up assessments. Additionally, we measured the length of the longest AS visible at baseline and follow-up and the area of atrophy at baseline, both on FAF. : A total of 150 eyes of 75 PXE patients (median age at baseline 51.8 years, IRQ 46.3; 57.5 years, 49 female) underwent retrospective analysis. At baseline, 23 of 75 patients exhibited ODD in a minimum of one eye, resulting in an ODD prevalence of 30.7% in our cohort of PXE patients. Among these, 14 patients showed monocular and 9 binocular ODD that were localized predominantly nasally (46.9%). During the observational period (mean 97.5 ± 44.7 months), only one patient developed de novo ODD in one eye and one other patient showed a progression in the size of the existing ODD. The group of patients with ODD had significantly longer ASs (median 7020 µm, IQR 4604; 9183, vs. AS length without ODD: median 4404 µm, IQR 3512; 5965, < 0.001). No association with the size of the atrophy was found at baseline ( = 0.27). : This study demonstrates a prevalence of ODD of 30.7%. ODD presence is associated with longer ASs (an indicator of the severity and extent of ocular Bruch's membrane calcification), suggesting that ODD formation is tightly related to ectopic calcification-possibly secondary to calcification of the lamina cribrosa. Prospective studies investigating the impact of ODD (in conjunction with intraocular pressure) on visual function in PXE warrant consideration.
PubMed: 38929924
DOI: 10.3390/jcm13123395 -
Genes Jun 2024The aim of this study was to describe the clinical and molecular genetic findings in seven individuals from three unrelated families with Blau syndrome. A complex...
The aim of this study was to describe the clinical and molecular genetic findings in seven individuals from three unrelated families with Blau syndrome. A complex ophthalmic and general health examination including diagnostic imaging was performed. The mutational hot spot located in exon 4 was Sanger sequenced in all three probands. Two individuals also underwent autoinflammatory disorder gene panel screening, and in one subject, exome sequencing was performed. Blau syndrome presenting as uveitis, skin rush or arthritis was diagnosed in four cases from three families. In two individuals from one family, only camptodactyly was noted, while another member had camptodactyly in combination with non-active uveitis and angioid streaks. One proband developed two attacks of meningoencephalitis attributed to presumed neurosarcoidosis, which is a rare finding in Blau syndrome. The probands from families 1 and 2 carried pathogenic variants in (NM_022162.3): c.1001G>A p.(Arg334Gln) and c.1000C>T p.(Arg334Trp), respectively. In family 3, two variants of unknown significance in a heterozygous state were found: c.1412G>T p.(Arg471Leu) in and c.928C>T p.(Arg310*) in (NM_001199139.1). In conclusion, Blau syndrome is a phenotypically highly variable, and there is a need to raise awareness about all clinical manifestations, including neurosarcoidosis. Variants of unknown significance pose a significant challenge regarding their contribution to etiopathogenesis of autoinflammatory diseases.
Topics: Humans; Arthritis; Arthropathy, Neurogenic; Central Nervous System Diseases; Exome Sequencing; Hereditary Autoinflammatory Diseases; Lymphedema; Mutation; Nod2 Signaling Adaptor Protein; Pedigree; Sarcoidosis; Synovitis; Uveitis
PubMed: 38927735
DOI: 10.3390/genes15060799 -
Archivos de La Sociedad Espanola de... Jun 2024
PubMed: 38909894
DOI: 10.1016/j.oftale.2024.05.013 -
Indian Journal of Dermatology,... Apr 2024Telangiectasia macularis multiplex acquisita is a rarely described entity, characterized by multiple asymptomatic erythematous and/or brownish macules with...
Telangiectasia macularis multiplex acquisita is a rarely described entity, characterized by multiple asymptomatic erythematous and/or brownish macules with telangiectasias, preferably on bilateral upper arms and trunk. We reported a 56-year-old Chinese man with telangiectasia macularis multiplex acquisita. Dermoscopic examination demonstrated an erythematous-brownish background with a striking angioid streak pattern (a central arteriole with superficial radiating small vessels attributed to spider-like eruptions) and linear-irregular branching vessels. We suggest dermoscopic features can be used to improve the accuracy of clinical diagnosis and avoid unnecessary skin biopsies.
PubMed: 38841960
DOI: 10.25259/IJDVL_762_2023 -
Progress in Retinal and Eye Research May 2024Pseudoxanthoma elasticum (PXE) is an autosomal-recessively inherited multisystem disease. Mutations in the ABCC6-gene are causative, coding for a transmembrane... (Review)
Review
Pseudoxanthoma elasticum (PXE) is an autosomal-recessively inherited multisystem disease. Mutations in the ABCC6-gene are causative, coding for a transmembrane transporter mainly expressed in hepatocytes, which promotes the efflux of adenosine triphosphate (ATP). This results in low levels of plasma inorganic pyrophosphate (PPi), a critical anti-mineralization factor. The clinical phenotype of PXE is characterized by the effects of elastic fiber calcification in the skin, the cardiovascular system, and the eyes. In the eyes, calcification of Bruch's membrane results in clinically visible lesions, including peau d'orange, angioid streaks, and comet tail lesions. Frequently, patients must be treated for secondary macular neovascularization. No effective therapy is available for treating the cause of PXE, but several promising approaches are emerging. Finding appropriate outcome measures remains a significant challenge for clinical trials in this slowly progressive disease. This review article provides an in-depth summary of the current understanding of PXE and its multi-systemic manifestations. The article offers a detailed overview of the ocular manifestations, including their morphological and functional consequences, as well as potential complications. Lastly, previous and future clinical trials of causative treatments for PXE are discussed.
PubMed: 38815804
DOI: 10.1016/j.preteyeres.2024.101274 -
Indian Journal of Ophthalmology Jun 2024Submacular hemorrhage (SMH) is a sight-threatening disorder. Choroidal neovascularization secondary to age-related macular degeneration, polypoidal choroidal...
BACKGROUND
Submacular hemorrhage (SMH) is a sight-threatening disorder. Choroidal neovascularization secondary to age-related macular degeneration, polypoidal choroidal vasculopathy, trauma, angioid streaks, and pathological myopia are a few important causes. The conventional treatment of massive SMH is vitrectomy with manual removal of the clot with extensive retinectomy with/without tissue plasminogen activator (tPA). The usual dose of subretinal tPA is 10-25 µg.
PURPOSE
To describe a new surgical approach in a case of massive SMH with retinal detachment without retinectomy.
SYNOPSIS
In our case of near total hemorrhagic retinal detachment due to subretinal hemorrhage caused by trauma (road traffic accident), the patient presented with a visual acuity of counting fingers. Core vitrectomy was performed and posterior vitreous detachment was induced. The locations for retinotomy to inject and aspirate subretinal blood were selected at the maximum height of retinal elevation near the arcades. Recombinant tPA (10 µg/0.1 ml concentration; 0.3 ml injected in two locations) was injected subretinally with a 23-G soft tip cannula in the superotemporal and inferonasal quadrant causing subretinal bleb formation. Subsequently, the surgeon waited for approximately 20 min on the table for the liquefaction of the clot. The liquefied blood and tPA were drained with a silicone soft tip. Endolaser was performed at the retinotomy site and 1000cs silicone oil was injected. No signs of toxicity such as vitritis, vasculitis, or retinal necrosis were noted.
HIGHLIGHTS
Our unique technique of high-dose intraoperative subretinal tPA (60 µg) is safe and helpful in rapid clot lysis and recovery of visual acuity. The patient gained a visual acuity of 20/80 from counting fingers after 1 month of surgery and 20/60 after silicone oil removal. A high dose of tPA aids in the immediate aspiration of blood from a small retinotomy. A 23-G soft tip was used instead of a 41-G subretinal cannula to inject a large quantity of subretinal tPA.
VIDEO LINK
https://youtu.be/JzZBDUfa3NA.
Topics: Humans; Tissue Plasminogen Activator; Retinal Hemorrhage; Vitrectomy; Fibrinolytic Agents; Visual Acuity; Tomography, Optical Coherence; Male; Fundus Oculi; Fluorescein Angiography; Dose-Response Relationship, Drug
PubMed: 38804808
DOI: 10.4103/IJO.IJO_2295_23 -
European Journal of Ophthalmology May 2024To characterize and monitor choroidal neovascularisation (CNV) secondary to angioid streaks (AS) using multimodal imaging and to compare the results with conventional...
BACKGROUND
To characterize and monitor choroidal neovascularisation (CNV) secondary to angioid streaks (AS) using multimodal imaging and to compare the results with conventional fluorescein angiography (FA).
METHODS
A total of 11 eyes with CNV secondary to AS were included in this retrospective study. Multimodal morphological and functional assessment, including spectral-domain optical coherence tomography (SD-OCT), spectral-domain optical coherence tomography angiography (SD-OCTA), and fundus autofluorescence (FAF), were used to assess for evidence of CNV activity and compared with conventional FA. Morphological features of CNV were analyzed and treatment was continuously monitored using SD-OCT and SD-OCTA.
RESULTS
Our results showed that SD-OCTA provided reliable results for the detection of secondary CNV in AS that were comparable to conventional FA. With SD-OCTA, a total of 13 CNVs were detected in 11 eyes and analyzed by means of outer retinal choriocapillaris depth (ORCC) segmentation and the corresponding B-scans. Twelve of the 13 CNVs were classified as active and therefore required treatment. For treatment monitoring during intravitreal therapy (IVT), SD-OCTA was found to be a valuable diagnostic tool over a mean follow-up of 76 weeks.
CONCLUSIONS
Our study demonstrates that SD-OCTA can be routinely used to identify ill-defined CNV without dye-based angiography, especially in cases of CNV secondary to AS, where Bruch's membrane (BM) defects limit the diagnostic value of FA. Our results showed that non-invasive multimodal imaging facilitates sufficient CNV monitoring and treatment guidance. Further studies are warranted to provide more evidence in this rare retinal disease.
PubMed: 38803209
DOI: 10.1177/11206721241257976 -
Cureus Apr 2024Angioid streaks (AS) are recognized as irregular, linear dehiscences of Bruch's membrane, often associated with systemic diseases. We present the case of a 50-year-old...
Angioid streaks (AS) are recognized as irregular, linear dehiscences of Bruch's membrane, often associated with systemic diseases. We present the case of a 50-year-old woman initially diagnosed with AS during a routine optometric examination. Subsequent ophthalmological evaluation revealed bilateral AS with calcified drusen. Two years post-diagnosis, she developed blurred vision in her right eye due to the choroidal neovascular membrane adjacent to the macular AS. Further evaluation uncovered clinical signs consistent with pseudoxanthoma elasticum (PXE), including characteristic skin lesions. A multidisciplinary approach involving ophthalmology, dermatology, and cardiovascular specialists was initiated. Histopathological confirmation of PXE was obtained through a skin biopsy. PXE, an autosomal recessive disorder characterized by elastin calcification, presents systemic manifestations necessitating comprehensive evaluation and monitoring. This case demonstrates the importance of recognizing ocular complications in PXE and advocates for early multidisciplinary intervention to mitigate potential vision and life-threatening outcomes.
PubMed: 38741802
DOI: 10.7759/cureus.58104 -
Cureus Mar 2024A 42-year-old female with a known case of hypertension for three years, symptoms of metamorphopsia, and decreased vision in both eyes reported to the ophthalmology...
A 42-year-old female with a known case of hypertension for three years, symptoms of metamorphopsia, and decreased vision in both eyes reported to the ophthalmology outpatient department. There was no recorded history of ocular injury or surgery. Several observational techniques, such as fundus inspection, fundus camera photography, and optical coherence tomography (OCT), were utilized to assess the patient. We referred her to the Department of Dermatology for additional assessment because of her symptoms as well as the appearance of her neck's skin, which matched "plucked chicken skin." There, the diagnosis of pseudoxanthoma elasticum (PE) was confirmed. She was subsequently scheduled for an intravitreal bevacizumab injection called Avastin, which improved her visual acuity.
PubMed: 38690509
DOI: 10.7759/cureus.57342 -
European Journal of Ophthalmology Apr 2024Pseudoxanthoma Elasticum (PXE) is a rare autosomal recessive disorder originated by disease-causing variants in ABCC6 gene. The purpose of this study was to characterize...
INTRODUCTION
Pseudoxanthoma Elasticum (PXE) is a rare autosomal recessive disorder originated by disease-causing variants in ABCC6 gene. The purpose of this study was to characterize the genetic landscape, phenotypic spectrum and genotype-phenotype correlations in a Portuguese cohort of PXE patients.
METHODS
Multicentric cross-sectional study conducted in patients with a clinical and genetic diagnosis of PXE. Patients were identified using the IRD-PT registry (www.retina.com.pt). Genotypes were classified into 3 groups: (1) two truncating variants, (2) two non-truncating variants, or (3) mixed variants. Deep phenotyping comprised a comprehensive ophthalmologic and systemic evaluation using the updated Phenodex Score (PS).
RESULTS
Twenty-seven patients (23 families) were included. Sixteen different ABCC6 variants were identified, 7 of which are novel. The most prevalent variant was the nonsense variant c.3421C > T p.(Arg1141*) with an allele frequency of 18.5%. All patients exhibited ocular manifestations. Cutaneous manifestations were present in most patients (88.9%, n = 24/27). A PS score > E2 was strongly associated with worse visual acuity (B = -29.02; = 0.001). No association was found between genotypic groups and cutaneous, vascular or cardiac manifestations.
CONCLUSIONS
This study describes the genetic spectrum of patients with PXE for the first time in a Portuguese cohort. A total of 16 different variants in ABCC6 were found (7 of which are novel), thus highlighting the genotypic heterogeneity associated with this condition and expanding its mutational spectrum. Still, no major genotype-phenotype associations could be established.
PubMed: 38602027
DOI: 10.1177/11206721241247676