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Journal of Ophthalmic & Vision Research 2014Birdshot retinochoroidopathy (BSRC) is an uncommon, but well-characterized chronic, bilateral posterior uveitis, which is uniquely associated with the human leukocyte... (Review)
Review
Birdshot retinochoroidopathy (BSRC) is an uncommon, but well-characterized chronic, bilateral posterior uveitis, which is uniquely associated with the human leukocyte antigen-A29 phenotype. The disease presents predominantly in middle-aged Caucasian females who complain of blurred vision, floaters, photopsias, paracentral scotomas and nyctalopia. While autoimmune mechanisms are thought to play an important role in the pathogenesis of BSRC, its etiology remains unknown. Important questions remain in our understanding of BSRC with respect to its pathogenesis, epidemiology, optimal treatment, and prognosis, including the determinants of remission and relapse, as well as the best strategy for monitoring disease activity, progression and response to therapy with electroretinographic and psychophysical testing, established and emerging imaging modalities, and peripheral cytokines profiles.
PubMed: 25667738
DOI: 10.4103/2008-322X.143376 -
Medicines (Basel, Switzerland) Jan 2023Choroidal melanoma is a rare malignant tumour, yet it is the most common primary intra-ocular neoplasm and second on the list of top ten most malignant melanoma sites in... (Review)
Review
Choroidal melanoma is a rare malignant tumour, yet it is the most common primary intra-ocular neoplasm and second on the list of top ten most malignant melanoma sites in the body. Clinical presentation can be non-specific and includes photopsia, floaters, progressive visual field loss, and blurry vision. The tumour is quite often diagnosed clinically during fundus examination; however, the most valued diagnostic tests are A- and B-scan ultrasonography (US). Several factors affect prognosis, including the patient's age, tumour size, histological features, and presence of metastases. Still, with primary treatment and tight surveillance, around 50% of choroidal melanoma patients metastasise.
PubMed: 36662495
DOI: 10.3390/medicines10010011 -
International Journal of Retina and... 2018Autoimmune retinopathy (AIR) is a rare and still poorly understood immune-mediated disease that may cause inflammation from circulating autoantibodies against the... (Review)
Review
Autoimmune retinopathy (AIR) is a rare and still poorly understood immune-mediated disease that may cause inflammation from circulating autoantibodies against the retina. It may be related to history of autoimmune disease in the patient or in a family member or the presence of neoplastic disease in the individual. The disease may be subdivided into paraneoplastic and non-paraneoplastic AIR. When related to melanoma, it is referred to as MAR, and when related to other cancers, it is called CAR. The exact prevalence of AIR is unknown. It mainly affects older adults. Patients present with bilateral and asymmetric scotomas, photopsias, visual field defects, with rapidly progressive visual loss in late onset. In the initial stage, fundus examination is unremarkable, and in late stages, there is limited retinal epitheliopathy and vascular attenuation, with or without optic disc pallor, associated or not with intraocular inflammation and with no evidence of degenerative retinal disease. A clinical investigation with detailed anamnesis and laboratory tests should be performed to search for an associated neoplasm. Ophthalmologic and complementary examinations such as full-field electroretinogram, optical coherence tomography, visual field and fundus autofluorescence, help the diagnosis. Blood tests to search for autoantibodies should be requested. Management consists of prolonged immunosuppression, which may be combined with antioxidant vitamins. In general, the prognosis is uncertain, so the disease still needs to be better understood. More studies should be performed to improve diagnostic measures and define specific management that could preserve or even restore vision.
PubMed: 29340169
DOI: 10.1186/s40942-017-0104-9 -
International Journal of Molecular... Jul 2022Pathogenic variants in DNA-damage regulated autophagy modulator 2 gene () cause a rare autosomal recessive retinal dystrophy and its disease course is not well...
Pathogenic variants in DNA-damage regulated autophagy modulator 2 gene () cause a rare autosomal recessive retinal dystrophy and its disease course is not well understood. We present two Slovenian patients harboring a novel variant and a detailed review of all 23 other patients described to date. Whole exome and whole genome sequencing were performed in the two patients, and both underwent ophthalmological examination with a 2-year follow-up. PubMed was searched for papers with clinical descriptions of DRAM2 retinopathy. Patient 1 was homozygous for a novel variant, p.Met1?, and presented with the acute onset of photopsia and retina-wide retinopathy at the age of 35 years. The patient was first thought to have an autoimmune retinopathy and was treated with mycophenolate mofetil, which provided some symptomatic relief. Patient 2 was compound heterozygous for p.Met1? and p.Leu246Pro and presented with late-onset maculopathy at the age of 59 years. On review, patients with DRAM2 retinopathy usually present in the third decade with central visual loss, outer retinal layer loss on optical coherence tomography and a hyperautofluorescent ring on fundus autofluorescence. Either cone-rod or rod-cone dystrophy phenotype is observed on electroretinography, reflecting the importance of DRAM2 in both photoreceptor types. Non-null variants can result in milder disease.
Topics: Autoimmune Diseases; Cone-Rod Dystrophies; Electroretinography; Humans; Membrane Proteins; Mutation; Pedigree; Phenotype; Retinal Dystrophies; Tomography, Optical Coherence
PubMed: 35806404
DOI: 10.3390/ijms23137398 -
Anales Del Sistema Sanitario de Navarra 2008Uveal metastases are the most frequent malign intraocular tumour, of which more than 80% are localized in the choroids. This, together with the progressive increase in... (Review)
Review
Uveal metastases are the most frequent malign intraocular tumour, of which more than 80% are localized in the choroids. This, together with the progressive increase in its incidence, makes its study and review necessary for a correct diagnosis and treatment in current clinical practice. Etiology varies according to the sex of the patient: lung carcinoma metastasises most frequently in men and breast carcinoma in women. These tend to multifocality and are generally localized in the posterior pole. Fifty percent of cases follow an asymptomatic development, but they can cause loss of vision, scotomas, metamorphopsias and photopsias. Charactersitic ophthamoscopic examination shows a placoid, homogenous choroidal lesion with a creamy appearance. The differential diagnosis must consider the amelanotic nevus, choroidal amelanotic melanoma, choroidal haemangioma, rear scleritis, choroidal osteoma, chorioretinitis, Harada's disease, rhegmatogenous retina detachment, uveal effusion syndrome, and serous central chorioretinopathy. An exhaustive history and complete ophthalmological examination are essential to the diagnosis, to which fluorescein angiography, ocular echography, fine needle puncture aspiration (FNPA), computerized tomography and magnetic resonance can be added as complementary tests. Treatment of these tumours is usually the systemic treatment of the primary tumour; the possibilities of local treatment are observation, external radiotherapy, transpupillary thermotherapy and enucleation.
Topics: Choroid Neoplasms; Humans
PubMed: 19169300
DOI: No ID Found -
World Journal of Experimental Medicine May 2021Spontaneous posterior vitreous detachment (PVD) is a common age-related condition in which prevalence tends to increase with age. Acute PVD can cause the onset of... (Review)
Review
Spontaneous posterior vitreous detachment (PVD) is a common age-related condition in which prevalence tends to increase with age. Acute PVD can cause the onset of symptoms that include visual disturbances, myodesopsia and photopsia. The goal of this short review was to provide a quick glance at the important factors related to PVD based on current literature in this field, which includes incidence, symptoms, diagnosis, risk factors, and education for patients with acute symptoms, and treatments. The take home message is that an ophthalmic examination at the onset of symptoms is of utmost importance, considering that irreversible sight-threatening complications can be prevented if diagnosed and treated promptly.
PubMed: 34141604
DOI: 10.5493/wjem.v11.i3.30 -
Asia-Pacific Journal of Ophthalmology... 2017The appearance of a dark shadow in the temporal periphery, otherwise known as negative dysphotopsia, continues to be a problem for some patients after routine... (Review)
Review
The appearance of a dark shadow in the temporal periphery, otherwise known as negative dysphotopsia, continues to be a problem for some patients after routine uncomplicated cataract surgery. Etiologies include type and design of intraocular lens (IOL), anatomical features and dimensions of the eye, pupil size, angle kappa, relationship of the optic to the anterior capsule, and the position of the optic/haptic junction of the IOL. Although the primary etiology remains controversial, it is clear that the cause is multifactorial. All of the factors should be considered when attempting to prevent or treat this phenomenon.
Topics: Cataract Extraction; Humans; Lenses, Intraocular; Pseudophakia; Vision Disorders; Visual Acuity; Visual Fields
PubMed: 28726357
DOI: 10.22608/APO.2017111