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Rheumatology International Feb 2024Pseudoxanthoma Elasticum (PXE) is a rare genetic disorder caused by an autosomal recessive mutation in the ABCC6 gene. It manifests with distinctive clinical symptoms... (Review)
Review
Pseudoxanthoma Elasticum (PXE) is a rare genetic disorder caused by an autosomal recessive mutation in the ABCC6 gene. It manifests with distinctive clinical symptoms impacting the skin, eyes, and cardiovascular system, along with an elevated risk of cardiovascular diseases. We present a case of a 34-year-old male patient who was initially referred to the rheumatology clinic for evaluation due to suspected large vessel vasculitis. The patient's primary complaint was severe hemifacial pain radiating to the neck and upper limb. Radiological imaging studies unveiled substantial vascular narrowing and collateral vessel formation, prompting further investigation to exclude systemic vasculitis. Intriguingly, the patient also exhibited cutaneous manifestations, which were later confirmed via skin biopsy as consistent with PXE. An ophthalmological examination further revealed the presence of the classic PXE findings of angioid streaks. Given the rarity of PXE and its multifaceted clinical presentation, it can be particularly challenging to diagnose and manage. As such, cases like the one presented here may necessitate a referral to a rheumatologist for evaluation of potential systemic involvement. To provide a comprehensive perspective on PXE, we conducted a systematic review of case reports published in the past decade in English, collected from PubMed, Scopus, and the Directory of Open Access databases. The analysis of these cases will be discussed to shed light on the diversity of PXE's clinical features and the diagnostic and management dilemmas it poses and to facilitate ongoing exploration and research into this intricate condition, ultimately leading to improved care for individuals affected by PXE.
Topics: Male; Humans; Adult; Pseudoxanthoma Elasticum; Skin; Mutation; Cardiovascular System; Vasculitis; Rare Diseases
PubMed: 38141121
DOI: 10.1007/s00296-023-05509-w -
BMC Ophthalmology Jul 2016Beta-thalassemia is a severe genetic blood disorder caused by a mutation in the gene encoding for the beta chains of hemoglobin. Individuals with beta-thalassemia major... (Review)
Review
BACKGROUND
Beta-thalassemia is a severe genetic blood disorder caused by a mutation in the gene encoding for the beta chains of hemoglobin. Individuals with beta-thalassemia major require regular lifelong Red Blood Cell transfusions to survive. Ocular involvement is quite common and may have serious implications.
METHODS
Extensive review of observational studies on beta-thalassemia, to determine the prevalence and spectrum of ocular abnormalities, by clinical examination and multimodal imaging, and to investigate risk factors for their development.
RESULTS
Frequency of ocular involvement differs among various studies (41.3-85 %, three studies). Ocular findings in beta-thalassemia may correlate to the disease itself, iron overload or the chelating agents used. Beta-thalassemia ocular manifestations include ocular surface disease, as demonstrated by tear function parameters (two studies). Lens opacities are present in 9.3-44 % (five studies). Lenticular opacities and RPE degeneration correlated positively with use of desferrioxamine and deferriprone respectively (two studies). Ocular fundus abnormalities characteristic of pseudoxanthoma elasticum (PXE), including peau d'orange, angioid streaks, pattern dystrophy-like changes, and optic disc drusen are a consistent finding in seven studies. Patients with PXE-like fundus changes were older than patients without these fundus changes (two studies). Age (two studies) and splenectomy (one study) had the strongest association with presence of PXE-like fundus changes. Increased retinal vascular tortuosity independently of the PXE-like fundus changes was found in 11-17.9 % (three studies), which was associated with aspartate amino transferase, hemoglobin and ferritin levels (two studies). Fundus autofluorescence and electrophysiological testing (ERG and EOG) may indicate initial stages or more widespread injury than is suggested by fundus examination (two studies).
CONCLUSIONS
Beta-thalassemia may present with various signs, both structural and functional. Pseudoxanthoma elasticum like fundus changes are a frequent finding in patients with b-thalassemia. These changes increase with duration or severity of the disease. Retinal vascular tortuosity may be an additional disease manifestation related to the severity and duration of anemia and independent of the PXE-like syndrome. Patients with long-standing disease need regular ophthalmic checkups because they are at risk of developing PXE-like fundus changes and potentially of subsequent choroidal neovascularization.
Topics: Chelating Agents; Humans; Iron Overload; Observational Studies as Topic; Retinal Diseases; Vision Disorders; beta-Thalassemia
PubMed: 27390837
DOI: 10.1186/s12886-016-0285-2 -
Ophthalmology Jan 2003TOPIC/PURPOSE: To assess the clinical usefulness and relevance of indocyanine green angiography (ICG) in the investigation of chorioretinal disorders and assess... (Review)
Review
UNLABELLED
TOPIC/PURPOSE: To assess the clinical usefulness and relevance of indocyanine green angiography (ICG) in the investigation of chorioretinal disorders and assess specifically in what conditions it may add useful information to that obtained using standard fluorescein angiography.
CLINICAL RELEVANCE
Many publications on ICG have appeared in recent years touting its use in ophthalmology. These publications have led to increasing use of this technique and to its application in numerous retinal diseases in which the fluorescein angiographic findings have been thoroughly described.
METHODS/LITERATURE REVIEWED
During this systematic literature review, we identified and reviewed a total of 376 articles, from among which we selected 92 that we considered most relevant to our purpose of evaluating published evidence as to the efficacy of ICG. We excluded many articles with weak study designs and those that simply duplicated previously published information. Our literature search used PubMed and was confined to articles in English or that included an English abstract.
RESULTS
Our systematic review suggests that ICG has relatively few specific indications for use as justified by previously published peer-reviewed studies. In keeping with the requirements for this Journal's evidence-based articles, we have divided our clinical recommendations for the use of ICG into three categories: (A) strongly recommended and supported by strong evidence; (B) recommended with moderately strong supporting evidence; (C) not recommended at present because supported only by anecdotal or group consensus evidence. We highly recommended ICG for (1) identification of polypoidal choroidal vasculopathy, (2) occult choroidal neovascularization, (3) neovascularization associated with pigment epithelial detachments, and (4) recurrent choroidal neovascular membranes. These are all conditions in which ICG contributes to the identification of lesions that may be treatable. We recommend ICG with some enthusiasm for identifying feeder vessels in age-related macular degeneration, choroidal neovascular membranes, chronic central serous retinopathy, multiple evanescent white dot syndrome, vasculitis, acute multifocal placoid pigment epitheliopathy, Vogt-Koyanagi-Harada syndrome, macular lesions associated with angioid streaks, and birdshot retinopathy. In all these conditions, ICG may help establish a diagnosis and provide some useful guidance for therapy. At present, we do not recommend ICG for scleritis and posterior scleritis, drusen differentiation, Behçet's disease, or sarcoidosis, because it has not been demonstrated to add useful clinical information.
CONCLUSIONS
ICG, although now a well established technique, has clear advantage over fluorescein angiography in relatively few chorioretinal disorders. It has, however, contributed to the understanding of pathologic processes in many ocular diseases. As yet, no published randomized controlled clinical trials show any benefit to the use of ICG in the management of any specific ocular disease.
Topics: Choroid; Choroid Diseases; Clinical Trials as Topic; Coloring Agents; Evidence-Based Medicine; Fluorescein Angiography; Humans; Indocyanine Green; Practice Guidelines as Topic; Retinal Diseases; Retinal Vessels
PubMed: 12511340
DOI: 10.1016/s0161-6420(02)01563-4