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Retina (Philadelphia, Pa.) Nov 2023
Topics: Humans; Pseudoxanthoma Elasticum; Ophthalmoscopy; Angioid Streaks; Multimodal Imaging; Lasers
PubMed: 37683255
DOI: 10.1097/IAE.0000000000003933 -
Ophthalmology and Therapy Oct 2023To describe subclinical angioid streaks (AS) as a frequent, peculiar age-related macular degeneration (AMD) phenotype, comparing features of eyes with subclinical AS...
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.
PubMed: 37542615
DOI: 10.1007/s40123-023-00778-x -
Ophthalmic Genetics Feb 2024Pseudoxanthoma elasticum (PXE) is an autosomal recessive condition caused by mutations in the gene. Ocular features include angioid streaks, peau d'orange fundus, and...
BACKGROUND
Pseudoxanthoma elasticum (PXE) is an autosomal recessive condition caused by mutations in the gene. Ocular features include angioid streaks, peau d'orange fundus, and drusen. We report a novel mutation causing PXE in a patient with a mixed phenotype of PXE and retinitis pigmentosa (RP).
CASE
A 37-year-old female presented with decreased peripheral vision and nyctalopia. Ocular imaging revealed angioid streaks emanating from the optic nerve as well as peripheral pigmentary changes and bone spicules. Genetic testing revealed two mutations in in trans. No other mutation was identified.
CONCLUSION
We present a rare case with ocular findings of PXE and RP in a patient with a novel mutation. The patient presented both with peripheral pigmentary changes and angioid streaks. Further investigation into this novel mutation would be beneficial to determine if the mutation is involved in the RP phenotype.
Topics: Female; Humans; Adult; Pseudoxanthoma Elasticum; Angioid Streaks; Retinitis Pigmentosa; Mutation; Fundus Oculi; Multidrug Resistance-Associated Proteins
PubMed: 37259549
DOI: 10.1080/13816810.2023.2219737 -
Ophthalmology and Therapy Aug 2023In current clinical practice, several optical coherence tomography (OCT) biomarkers have been proposed for the assessment of severity and prognosis of different retinal...
INTRODUCTION
In current clinical practice, several optical coherence tomography (OCT) biomarkers have been proposed for the assessment of severity and prognosis of different retinal diseases. Subretinal pseudocysts are subretinal cystoid spaces with hyperreflective borders and only a few single cases have been reported thus far. The aim of the study was to characterize and investigate this novel OCT finding, exploring its clinical outcome.
METHODS
Patients were evaluated retrospectively across different centers. The inclusion criterion was the presence of subretinal cystoid space on OCT scans, regardless of concurrent retinal diseases. Baseline examination was set as the first time the subretinal pseudocyst was identified by OCT. Medical and ophthalmological histories were collected at baseline. OCT and OCT-angiography were performed at baseline and at each follow-up examination.
RESULTS
Twenty-eight eyes were included in the study and 31 subretinal pseudocysts were characterized. Out of 28 eyes, 16 were diagnosed with neovascular age-related macular degeneration (AMD), 7 with central serous chorioretinopathy, 4 with diabetic retinopathy, and 1 with angioid streaks. Subretinal and intraretinal fluid were present in 25 and 13 eyes, respectively. Mean distance of the subretinal pseudocyst from the fovea was 686 µm. The diameter of the pseudocyst was positively associated with the height of the subretinal fluid (r = 0.46; p = 0.018) and central macular thickness (r = 0.612; p = 0.001). At follow-up, subretinal pseudocysts disappeared in most of the reimaged eyes (16 out of 17). Of these, two patients presented retinal atrophy at baseline examination and eight patients (47%) developed retinal atrophy at follow-up. Conversely, seven eyes (41%) did not develop retinal atrophy.
CONCLUSION
Subretinal pseudocysts are precarious OCT findings, usually disclosed in a context of subretinal fluid, and are probably transient alterations within the photoreceptor outer segments and retinal pigment epithelium (RPE) layer. Despite their nature, subretinal pseudocysts have been associated with photoreceptor loss and incomplete RPE definition.
PubMed: 37198519
DOI: 10.1007/s40123-023-00727-8 -
Journal of Cutaneous Pathology Aug 2023Pseudoxanthoma elasticum (PXE) is an autosomal recessive genetic disorder characterized by aberrant fragmentation and calcification of elastic fibers, leading to...
Pseudoxanthoma elasticum (PXE) is an autosomal recessive genetic disorder characterized by aberrant fragmentation and calcification of elastic fibers, leading to characteristic cutaneous, ophthalmic, and cardiovascular manifestations. PXE demonstrates significant phenotypic variability; involvement of the oral mucosa may be the only clue to the diagnosis. Reports on mucous membrane involvement in PXE are scarce. Here, we present a case of PXE-like changes in the oral cavity. A 70-year-old male patient presented with a painless leukoplakic lesion on the soft palate. Biopsy revealed numerous degenerated fibers in the lamina propria. Verhoeff-van Gieson and von Kossa staining confirmed their identity as calcified elastic fibers. A histopathological diagnosis of PXE-like changes was made; the patient was referred to ophthalmology where angioid streaks were visualized fundoscopically. PXE-like changes in the absence of the characteristic genetic mutation have also been reported with or without systemic manifestations. Furthermore, PXE-like changes have been reported in up to 10% of oral biopsy specimens undertaken without clinical suspicion for PXE. Therefore, the significance of such changes in isolation is unclear. Clinicians and pathologists should be aware of the potential oral manifestations of PXE to facilitate prompt diagnosis and subspecialist referral.
Topics: Male; Humans; Aged; Pseudoxanthoma Elasticum; Skin; Elastic Tissue; Palate, Soft; Mutation
PubMed: 37150825
DOI: 10.1111/cup.14445 -
Retinal Cases & Brief Reports Mar 2024To report a case of recurrent acute retinopathy associated with pseudoxanthoma elasticum and to propose a reappraisal of this entity based on multimodal imaging analysis.
PURPOSE
To report a case of recurrent acute retinopathy associated with pseudoxanthoma elasticum and to propose a reappraisal of this entity based on multimodal imaging analysis.
METHODS
Retrospective case report. High-resolution optical coherence tomography (high-res OCT), ultra-widefield imaging, and widefield swept-source OCT angiography and en face OCT were performed.
RESULTS
A man in his 40s diagnosed with pseudoxanthoma elasticum and angioid streaks presented with two distinct episodes of acute retinopathy in his right eye during a one-year follow-up period. Acute retinopathy was characterized by rapid vision loss. High-res OCT showed multifocal hyperreflective lesions splitting the retinal pigment epithelium/Bruch membrane complex and associated with focal choroidal thickening. After the first episode, OCT angiography confirmed the development of macular neovascularization at the site of a previous inflammatory lesion. During the second episode, multimodal images showed findings consistent with epiphenomenon multiple evanescent white dot syndrome (EpiMEWDS). On en face widefield OCT, acute retinopathy was characterized by multiple hyperreflective spots scattered at the posterior pole.
CONCLUSION
Recurrence of acute retinopathy can be observed in patients with pseudoxanthoma elasticum and angioid streaks. Multimodal imaging shows that some lesions of pseudoxanthoma elasticum-associated acute retinopathy closely resemble those of punctate inner choroidopathy/idiopathic multifocal choroiditis.
Topics: Male; Humans; Pseudoxanthoma Elasticum; Angioid Streaks; Retrospective Studies; Retinal Diseases; Tomography, Optical Coherence; Fluorescein Angiography
PubMed: 36730817
DOI: 10.1097/ICB.0000000000001363