• HS has been described in females with cleft lip and/or cleft palate, biliary and liver anomalies, intestinal malrotation, pigmentary retinopathy, and coarctation of the aorta. (nih.gov)
  • Clinical features comprise non-progressive cerebellar ataxia, intellectual disability of variable degree, language impairment, ocular motor apraxia and frequent occurrence of myopia or retinopathy. (johnshopkins.edu)
  • Susac syndrome presents with a triad of retinal arterial occlusion, deafness, and encephalopathy, although often not all of the components are evident at the onset. (medlink.com)
  • Here we review the retinal-based paraneoplastic syndromes, specifically cancer-associated retinopathy, melanoma-associated retinopathy (a lesser-known entity), paraneoplastic vitelliform maculopathy and bilateral diffuse uveal melanocytic proliferation. (reviewofophthalmology.com)
  • Metabolic syndrome (MetS) is associated with several degenerative diseases, including retinal degeneration. (molvis.org)
  • Retina-based paraneoplastic syndromes involving the visual system are relatively rare, but easy to overlook. (reviewofophthalmology.com)
  • Retinopathy of Prematurity (ROP) Retinopathy of prematurity is a disorder of premature infants in which the small blood vessels in the back of the eye (retina) grow abnormally. (msdmanuals.com)
  • Biliary, renal, neurologic, and skeletal syndrome (BRENS) is an autosomal recessive complex ciliopathy with multisystemic manifestations. (nih.gov)
  • In this article, the author describes the clinical features, pathology, and diagnosis of this syndrome as well as atypical presentations. (medlink.com)
  • The triad of clinical features in Susac syndrome is encephalopathy, retinopathy, and hearing loss. (medlink.com)
  • Cerebellar dysplasia with cysts and abnormal shape of the fourth ventricle, in the absence of significant supratentorial anomalies and of muscular involvement, defines recessively inherited Poretti-Boltshauser syndrome (PBS). (johnshopkins.edu)
  • One notable condition found in Pfizer's data is 1p36 deletion syndrome, which the National Library of Medicine describes as "a disorder that typically causes severe intellectual disability. (bigleaguepolitics.com)
  • MED12-related disorders include the phenotypes of FG syndrome type 1 (FGS1), Lujan syndrome (LS), X-linked Ohdo syndrome (XLOS), Hardikar syndrome (HS), and nonspecific intellectual disability (NSID). (nih.gov)
  • Paraneoplastic syndromes occur in as many as 10 to 15 percent of cancer patients. (reviewofophthalmology.com)
  • To determine the frequency and characterize the adverse events that occur during or in between physiotherapy sessions for parkinsonian syndromes. (plexa.ai)
  • 10%-20% have extrarenal manifestations that constitute a recognizable syndrome (e.g. (nih.gov)
  • the authors suggested classifying the disease course into suspected, incomplete, and complete Susac syndrome to facilitate early diagnosis. (medlink.com)
  • Unlike CAR, which frequently precedes the discovery of systemic malignancy, patients with melanoma-associated retinopathy (MAR) usually carry an existing diagnosis of melanoma. (reviewofophthalmology.com)
  • Susac syndrome is typically a triad of encephalopathy, retinopathy, and hearing loss, but may have an atypical presentation. (medlink.com)
  • Susac syndrome is characterized by a triad of encephalopathy, retinopathy, and hearing loss. (medlink.com)
  • Any COACH syndrome in which the cause of the disease is a variation in the TMEM67 gene. (nih.gov)
  • Any Senior-Loken syndrome in which the cause of the disease is a mutation in the WDR19 gene. (nih.gov)
  • Approximately 100 cases of cancer-associated retinopathy have been reported in the literature, yet CAR is the most prevalent paraneoplastic retinopathy. (reviewofophthalmology.com)
  • Corneal guttata and/or edema suggest Chandler syndrome or 1 of the iridocorneal endothelial syndromes. (medscape.com)
  • Examples of this process include the fibrovascular membrane formed in neovascular glaucoma, proliferating abnormal endothelial cells in iridocorneal endothelial syndromes, epithelialization of the angle due to epithelial ingrowth, and inflammatory trabecular and keratic precipitates in contact with an inflamed iris. (medscape.com)
  • One recent theory is that Cogan's syndrome is an autoimmune disease. (ivyroses.com)
  • 5. Non-Paraneoplastic Autoimmune Retinopathy: The First Case Report in Korea. (nih.gov)
  • 8. Clinical and electrophysiologic characterization of paraneoplastic and autoimmune retinopathies associated with antienolase antibodies. (nih.gov)
  • 12. Autoantibodies against retinal proteins in paraneoplastic and autoimmune retinopathy. (nih.gov)
  • 13. Cancer associated retinopathy (CAR): An autoimmune-mediated paraneoplastic syndrome. (nih.gov)
  • 17. Melanoma-associated retinopathy: a paraneoplastic autoimmune complication. (nih.gov)
  • 20. Combination Treatment with Rituximab and Bortezomib in a Patient with Non-Paraneoplastic Autoimmune Retinopathy. (nih.gov)
  • 4. Recoverin-associated retinopathy: a clinically and immunologically distinctive disease. (nih.gov)
  • 11. [Paraneoplastic retinopathy simulating cone dystrophy with achromatopsia]. (nih.gov)
  • 18. Autoantibodies to photoreceptor membrane proteins and outer plexiform layer in patients with cancer-associated retinopathy. (nih.gov)
  • 2. Paraneoplastic retinopathy associated with antiretinal bipolar cell antibodies in cutaneous malignant melanoma. (nih.gov)
  • Malignant hypertension is a syndrome associated with an abrupt increase of blood pressure in a patient with underlying hypertension or related to the sudden onset of hypertension in a previously normotensive individual. (clinicalgate.com)
  • Pathologically, the syndrome is associated with diffuse necrotizing vasculitis, arteriolar thrombi, and fibrin deposition in arteriolar walls. (clinicalgate.com)
  • 10. Acute progressive paravascular placoid neuroretinopathy with negative-type electroretinography in paraneoplastic retinopathy. (nih.gov)
  • However, there have also been suggestions that Cogan's syndrome may be initiated by a bacterial infection (specifically chlamydia pneumoniae ) - though Cogan's syndrome does not result from all infections with this bacteria, and fortunately remains a rare condition. (ivyroses.com)
  • Peripheral anterior synechiae may also be associated with anterior segment dysgenesis or other forms of secondary angle-closure glaucoma such as iridocorneal endothelial syndrome. (medscape.com)
  • Axenfeld-Rieger syndrome (anterior segment dysgenesis) may present with an anterior, prominent uveal meshwork with an anteriorly displaced Schwalbe line that is not believed to be true PAS. (medscape.com)
  • Freeman-Sheldon syndrome (FSS), or DA2A, is phenotypically similar to DA1. (nih.gov)
  • In its rare complete form, 'prune belly' syndrome comprises megacystis (massively enlarged bladder) with disorganized detrusor muscle, cryptorchidism, and thin abdominal musculature with overlying lax skin (summary by Weber et al. (nih.gov)
  • Basilar artery thrombosis can present with progressive neurologic deficits and can result in tetra paresis, coma, or locked-in syndrome. (abcmedicalnotes.com)