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Retina (Philadelphia, Pa.) Jun 2023To report the very long-term visual prognosis of choroidal neovascularization complicating angioid streaks in the antivascular endothelial growth factor era.
PURPOSE
To report the very long-term visual prognosis of choroidal neovascularization complicating angioid streaks in the antivascular endothelial growth factor era.
METHODS
Retrospective monocentric study aimed at analyzing patients' demographics, choroidal neovascularization features, angioid streak-associated conditions, and previous and current therapies for choroidal neovascularization. The main outcome measures were the quantitative measurement of central retinal pigment epithelial atrophy enlargement by comparing the ratio of pixels involved on automated infrared images acquired by spectral-domain optical coherence tomography and the changes in best-corrected visual acuity. The secondary outcome measures were the number of intravitreal injections and the changes in central choroidal thickness and central retinal thickness. Subgroup analyzes were performed to compare macular atrophy extent between eyes of patients with or without proven pseudoxanthoma elasticum ("PXE" or "no PXE") and between eyes previously treated or not with photodynamic therapy ("PDT" or "no PDT").
RESULTS
Thirty-three eyes of 23 patients were included. The mean best-corrected visual acuity decreased significantly from 66 ± 19 Early Treatment Diabetic Retinopathy Study letters at the time of the first antivascular endothelial growth factor injection to 52 ± 23 Early Treatment Diabetic Retinopathy Study letters at the end of the follow-up (mean follow-up duration: 109 ± 42 months, range: 47-175 months). The ratio of central retinal pigment epithelial atrophy enlargement was 201%, 110%, 240%, and 111% in the PXE, no PXE, PDT, and no PDT groups, respectively.
CONCLUSION
Despite the use of antivascular endothelial growth factor agents, the very long-term prognosis appeared relatively poor, especially in patients with PXE. This study also suggests that PDT should be used with caution in the management of choroidal neovascularization in eyes with angioid streaks.
Topics: Humans; Angioid Streaks; Endothelial Growth Factors; Diabetic Retinopathy; Retrospective Studies; Treatment Outcome; Follow-Up Studies; Choroidal Neovascularization; Pseudoxanthoma Elasticum; Prognosis; Intravitreal Injections; Tomography, Optical Coherence; Atrophy; Retinal Pigments
PubMed: 36727798
DOI: 10.1097/IAE.0000000000003746 -
Journal of Internal Medicine May 2021Pseudoxanthoma elasticum (PXE) is a recessive disorder involving skin, eyes and arteries, mainly caused by ABCC6 pathogenic variants. However, almost one fifth of...
PURPOSE
Pseudoxanthoma elasticum (PXE) is a recessive disorder involving skin, eyes and arteries, mainly caused by ABCC6 pathogenic variants. However, almost one fifth of patients remain genetically unsolved despite extensive genetic screening of ABCC6, as illustrated in a large French PXE series of 220 cases. We searched for new PXE gene(s) to solve the ABCC6-negative patients.
METHODS
First, family-based exome sequencing was performed, in one ABCC6-negative PXE patient with additional neurological features, and her relatives. CYP2U1, involved in hereditary spastic paraplegia type 56 (SPG56), was selected based on this complex phenotype, and the presence of two candidate variants. Second, CYP2U1 sequencing was performed in a retrospective series of 46 additional ABCC6-negative PXE probands. Third, six additional SPG56 patients were evaluated for PXE skin and eye phenotype. Additionally, plasma pyrophosphate dosage and functional analyses were performed in some of these patients.
RESULTS
6.4% of ABCC6-negative PXE patients (n = 3) harboured biallelic pathogenic variants in CYP2U1. PXE skin lesions with histological confirmation, eye lesions including maculopathy or angioid streaks, and various neurological symptoms were present. CYP2U1 missense variants were confirmed to impair protein function. Plasma pyrophosphate levels were normal. Two SPG56 patients (33%) presented some phenotypic overlap with PXE.
CONCLUSION
CYP2U1 pathogenic variants are found in unsolved PXE patients with neurological findings, including spastic paraplegia, expanding the SPG56 phenotype and highlighting its overlap with PXE. The pathophysiology of ABCC6 and CYP2U1 should be explored to explain their respective role and potential interaction in ectopic mineralization.
Topics: Calcinosis; Cytochrome P-450 Enzyme System; Cytochrome P450 Family 2; Eye; HEK293 Cells; Humans; Multidrug Resistance-Associated Proteins; Mutation, Missense; Phenotype; Pseudoxanthoma Elasticum; Retrospective Studies; Skin; Spastic Paraplegia, Hereditary
PubMed: 33107650
DOI: 10.1111/joim.13193 -
International Medical Case Reports... 2022To describe a case of hypotony maculopathy following anti-VEGF intravitreal injection (IVI) in a patient with pseudoxanthoma elasticum (PE).
PURPOSE
To describe a case of hypotony maculopathy following anti-VEGF intravitreal injection (IVI) in a patient with pseudoxanthoma elasticum (PE).
METHODS
Clinical case report.
RESULTS
A 52-year-old male complained of right eye (OD) vision loss 2 days after an uncomplicated anti-VEGF IVI for the treatment of choroidal neovascularization secondary to angioid streaks. Relevant medical history included PE, pathologic myopia, and a previous pars plana vitrectomy (PPV) due to a retinal detachment. OD best-corrected visual acuity (BCVA) dropped from 6/12 to 6/18 after the IVI. Intraocular pressure (IOP) was 3 mmHg and chorioretinal folds were evident in the posterior pole. Topical dexamethasone and atropine were prescribed, and full recovery was noticed after 3 days. Four months later, the patient developed a new episode of vision loss after another IVI. His BCVA was counting fingers, IOP was 2mmHg, and more noticeable chorioretinal folds were found. This time, an open scleral wound at the injection site was evident and a scleral suture was necessary. Once again, the patient recovered well.
CONCLUSION
Hypotony maculopathy following intravitreal injection is a rare condition. However, the described patient presented several conditions which could be related with poor scleral wound closure: intrinsic scleral fragility due to myopia and pseudoxanthoma elasticum; repeated IVI procedures; and absence of vitreous in the posterior segment due to prior vitrectomy. Despite the good outcome, hypotony maculopathy may be a sight-threatening condition, and special attention is necessary for specific patients with risk factors.
PubMed: 36164320
DOI: 10.2147/IMCRJ.S382421 -
Ophthalmology. Retina Jan 2021
Topics: Adult; Angioid Streaks; Female; Fluorescein Angiography; Fundus Oculi; Hemochromatosis; Humans; Retina
PubMed: 33413797
DOI: 10.1016/j.oret.2020.08.008 -
International Ophthalmology Aug 2017Aagenaes syndrome, also called lymphoedema cholestasis syndrome 1 (LSC1), is characterized by neonatal intrahepatic cholestasis, often lessening and becoming...
Aagenaes syndrome, also called lymphoedema cholestasis syndrome 1 (LSC1), is characterized by neonatal intrahepatic cholestasis, often lessening and becoming intermittent with age and severe chronic lymphoedema, mainly affecting the lower extremities. The condition is autosomal recessively inherited, and the gene is located on chromosome 15q. The locus, LCS1, was mapped to a 6.6 cM region on chromosome 15. Angioid streaks are visible irregular crack-like dehiscences in bruch's membrane that are associated with atrophic degeneration of the overlying retinal pigment epithelium. Angioid streaks have been described to be associated with pseudoxanthoma elasticum, paget's disease, sickle-cell anaemia, acromegaly, Ehlers-Danlos syndrome, and diabetes mellitus, but also appear in patients without any systemic diseases. Patients with angioid streaks are generally asymptomatic, unless the lesions extend towards the foveola or develop complications such as traumatic bruch's membrane rupture or macular choroidal neovascularization.
Topics: Adult; Angioid Streaks; Cholestasis; Color Vision; Electroretinography; Fluorescein Angiography; Fundus Oculi; Humans; Lymphedema; Male; Retina; Tomography, Optical Coherence
PubMed: 27614462
DOI: 10.1007/s10792-016-0344-y -
Ophthalmic Surgery, Lasers & Imaging... Nov 2021To investigate the prevalence of areas of dark without pressure (DWOP) and angioid streaks (AS) in patients with sickle cell disease (SCD).
BACKGROUND AND OBJECTIVES
To investigate the prevalence of areas of dark without pressure (DWOP) and angioid streaks (AS) in patients with sickle cell disease (SCD).
PATIENTS AND METHODS
This was a consecutive series of 77 adults with SCD.
RESULTS
DWOP appeared as multiple patches in 35 of the affected eyes and as a single lesion in 3 eyes. OCT finding demonstrated the ellipsoid layer was hyporeflective in DWOP. AS were identified in six cases (3.9%) and were bilateral in five cases. The prevalence of AS was higher with increasing age, being 67% in the patients older than age 45 years.
CONCLUSION
The prevalence of DWOP in adults with SCD is 25% in this study, which is higher than previously reported, and the prevalence of AS is around 4%, which is midway between prior estimates. Recognition of the clinical examination and imaging features of DWOP reduce the need for additional investigation. .
Topics: Adult; Anemia, Sickle Cell; Angioid Streaks; Fluorescein Angiography; Humans; Middle Aged; Prevalence
PubMed: 34766849
DOI: 10.3928/23258160-20211026-01 -
Arquivos Brasileiros de Oftalmologia 2023
Topics: Humans; Angioid Streaks; Fluorescein Angiography
PubMed: 37132686
DOI: 10.5935/0004-2749.2022-0121 -
Ophthalmology. Retina 2017To investigate the application of noninvasive ultra-widefield (UWF) imaging in patients with angioid streaks secondary to pseudoxanthoma elasticum (PXE) and to compare...
PURPOSE
To investigate the application of noninvasive ultra-widefield (UWF) imaging in patients with angioid streaks secondary to pseudoxanthoma elasticum (PXE) and to compare detected findings with those obtainable with 7 standard 30° fields (7SF) imaging.
DESIGN
Cross-sectional, observational study.
PARTICIPANTS
Forty eyes of 20 consecutive patients with angioid streaks secondary to PXE (8 women and 12 men; mean age, 56.9 ± 12.3 years).
METHODS
Consecutive patients with angioid streaks secondary to PXE seeking treatment between January and June 2016 at the Medical Retina & Imaging Unit of the Department of Ophthalmology, University Vita-Salute San Raffaele, underwent UWF imaging (California; Optos PLC, Dunfermline, UK). Ultra-widefield color images and fundus autofluorescence (FAF) were evaluated. Ultra-widefield findings then were compared with those obtainable with 7SF.
MAIN OUTCOME MEASURES
Types and location of retinal lesions secondary to PXE.
RESULTS
Peripheral lesions not entirely visible with 7SF were identified in 29 of 40 eyes (72.5%; P < 0.0001). These peripheral lesions included peau d'orange (52.5% of the eyes), coquille d'oeuf (52.5%), cracked eggshell (5.0%), comet lesions (27.5%), peripheral retinal degenerations (17.5%), parastreak atrophies (10.0%), and peripheral hemorrhage (5.0%). Furthermore, chorioretinal atrophies, drusen of the optic disc, cracked eggshell, pattern-like dystrophies, and retinal hemorrhages associated with angioid streaks were observed on digital color or FAF images, or both, and described.
CONCLUSIONS
Ultra-widefield imaging showed valuable usefulness in patients with angioid streaks by providing in a single image the entire spectrum of retinal alterations associated with PXE. Peripheral lesions often are present in patients with angioid streaks and may be missed with 7SF imaging. A careful examination of fundus periphery should be performed during screening and follow-up visits.
PubMed: 31047269
DOI: 10.1016/j.oret.2016.10.005 -
Actas Dermo-sifiliograficas Sep 2020
Topics: Angioid Streaks; Breast Diseases; Elasticity Imaging Techniques; Fluorescein Angiography; Humans
PubMed: 32531239
DOI: 10.1016/j.ad.2018.09.028 -
Hippokratia 2021Ocular involvement in patients with transfusion-dependent β-thalassemia is quite common, and its frequency differs among studies. This case series aimed to describe the...
BACKGROUND
Ocular involvement in patients with transfusion-dependent β-thalassemia is quite common, and its frequency differs among studies. This case series aimed to describe the ocular abnormalities occurring in β-thalassemia patients who need regular blood transfusions and receive iron chelation therapy.
CASE SERIES
This is a case series prospectively studied 32 β-thalassemia patients from Northern Greece receiving regular blood transfusions and iron-chelating therapy. Patients' average age was 35.5 years. Eighteen patients with major phenotypes and fourteen patients with intermedia type underwent comprehensive ophthalmic examination at the time of enrolment, including visual acuity evaluation, refraction and color vision tests, Amsler grid test, slit-lamp, and dilated-pupil fundus examination. Additionally, we performed visual field testing and optical coherence tomography in all patients and fluorescein angiography only in selected cases. After six months, patients' complete ophthalmic examination was repeated for any new ocular findings due to the disease process and iron chelation therapy. Ocular involvement was detected in 46.87 % of the patients. Lesions were most frequently seen in elderly patients with thalassemia major. Lens opacities were present in 21.8 %, and degeneration of the retinal pigment epithelium was described in 15.6 % of the patients, representing the commonest fundus alteration observed, followed by fundus atrophy. The most severe and vision-threatening condition described in this study was the presence of angioid streaks with choroidal neovascularisation. Six months follow-up of patients did not reveal any new ocular findings.
CONCLUSION
Early detection of severe ocular abnormalities is important in patients with thalassemia; thus, an ophthalmologic examination should be included at regular check-ups. An annual examination is currently indicated for asymptomatic patients, while in symptomatic and complicated cases, patients should be closely followed-up. HIPPOKRATIA 2021, 25 (2):79-82.
PubMed: 35937508
DOI: No ID Found