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953 Possible Causes for AMYLOID, CORNEAL, CRANIAL, DYSTROPHY, LATTICE, Neuropathy, WITH

  • Hereditary Gelsolin Amyloidosis

    , and no systemic features Granular Corneal Dystrophy – Avellino, Reis Bückler Macular Corneal Dystrophy – Type I, Type Ia, Type II Schnyder Corneal Crystalline Dystrophy[webeye.ophth.uiowa.edu] Peripheral neuropathy, if present, is usually mild.[ncbi.nlm.nih.gov] […] deposition in AGel amyloidosis.[ncbi.nlm.nih.gov] […] gelsolin G654A gene mutation is autosomally dominantly inherited and presents typically in the 30s with progressive corneal lattice dystrophy, followed by cutis laxa and cranial[ncbi.nlm.nih.gov] Clinical manifestations include corneal lattice dystrophy, cranial neuropathy, especially affecting the facial nerve, bulbar signs, cutis laxa, increased skin fragility, and[orpha.net] WES facilitated a clinical diagnosis of HGA in patients with undiagnosed neuropathies.[ncbi.nlm.nih.gov] We report the first Italian family affected by hereditary gelsolin amyloidosis (HGA), a rare autosomal dominant disease characterized by adult-onset slowly progressive cranial[ncbi.nlm.nih.gov]

    Missing: WITH
  • Lattice Corneal Dystrophy Type 1

    Amyloid was identified by light and electron microscopy within corneal grafts of two male siblings from a family with lattice corneal dystrophy type 1.[ncbi.nlm.nih.gov] "Severe ataxia with neuropathy in hereditary gelsolin amyloidosis: a case report". Amyloid. 14 (1): 89–95. doi : 10.1080/13506120601116393. PMID 17453628.[en.wikipedia.org] The landmark of advanced LCD1 shows central superficial haze and paracentral stromal lattice lines.[ncbi.nlm.nih.gov] […] type V particularly affecting the facial nerve. 29 30 All three cases we describe had cranial neuropathies with involvement of cranial nerves V and VII.[bjo.bmj.com] Title Other Names: Corneal dystrophy, lattice type 1; CDL1; LCD1 Categories: Lattice corneal dystrophy type 1 (LCD1) is an eye disorder that affects the cornea, the clear[rarediseases.info.nih.gov] Familiar systemic paramyloidosis with lattice dystrophy of the cornea, progressive cranial neuropathy, skin changes and various internal symptoms.[link.springer.com] To investigate a possible role between the phenotypic variability and apolipoprotein E (ApoE), which co-localises with amyloid deposits in CDL1, we determined the ApoE genotype[ncbi.nlm.nih.gov]

    Missing: WITH
  • Corneal Stromal Dystrophy

    It may manifest congenitally (for example in congenital stroma corneal dystrophy), or as late as the fourth decade of life (for example in lattice corneal dystrophy type II[symptoma.com] […] systemic familial amyloidosis -in addition to lattice like stromal deposits: bilateral facial palsy ( protruding lips, skin laxity, "hound dog" ) cranial and peripheral neuropathy[studyblue.com] There was a simple recurrence in 21 (60%) eyes (14 patients) with lattice and in 15 (88%) eyes (eight patients) with CDB.[ncbi.nlm.nih.gov] (Optic Neuropathy, Ischemic) Anterior Uveitides (Uveitis, Anterior) Anton Syndrome (Blindness, Cortical) Aphakia Aphakia, Postcataract Apparatus Disease, Lacrimal (Lacrimal[provisu.ch] LCD type II is a systemic amyloidosis syndrome known as Meretoja syndrome []affecting the skin, cranial nerves and cornea.[webeye.ophth.uiowa.edu] Also known as Finnish Familial Amyloidosis, Meretoja syndrome, Amyloidosis V, Familial amyloidotic polyneuropathy IV Genetics & Inheritance Autosomal dominant inheritance[eyewiki.aao.org] The amount of corneal excision was determined by the depth of corneal opacity.[ncbi.nlm.nih.gov]

    Missing: WITH
  • Familial Amyloid Neuropathy

    The authors report two Japanese patients with lattice corneal dystrophy type II related to FAP-IV.[ncbi.nlm.nih.gov] We compared the clinical and electrophysiological findings in seven patients with familial amyloid polyneuropathy (FAP) and six with hereditary sensory and autonomic neuropathy[ncbi.nlm.nih.gov] Abstract Seven patients with familial amyloid neuropathy (AF amyloidosis) were studied to clarify the pathophysiology of the diarrhea associated with this disorder.[ncbi.nlm.nih.gov] It is characterised by cranial nerve involvement, corneal lattice and abnormal skin laxity, with occasional systemic involvement.[els.net] The familial amyloid neuropathies (or familial amyloidotic neuropathies, neuropathic heredofamilial amyloidosis, familial amyloid polyneuropathy ) are a rare group of autosomal[ipfs.io] Lattice corneal dystrophy type, also known as Biber-Haab-Dimmer dystrophy, is a rare form of corneal dystrophy.[en.wikipedia.org] […] deficiencies, vascularand metabolic disorders, medication-induced neuropathies, and idiopathic conditions.[books.google.com]

    Missing: WITH
  • Reis-Bucklers Corneal Dystrophy

    A corneal biopsy is not routinely performed but can be considered after a corneal transplant procedure.[symptoma.com] Familial systemic paramyloidosis with lattice dystrophy of the cornea, progressive corneal neuropathy, skin changes and various internal symptoms: a previously unrecognized[nature.com] 9q34 Associated with familial amyloid polyneuropathy Amyloid is derived from fragment of mutated gelsolin Lattice type III: Autosomal recessive Amyloid deposits thicker than[pathologyoutlines.com] LCD type II is a systemic amyloidosis syndrome known as Meretoja syndrome []affecting the skin, cranial nerves and cornea.[webeye.ophth.uiowa.edu] […] types,604307 CRYGDCataract 4 multiple types,115700 CRYGSCataract 20 multiple types,116100 CSPP1Joubert syndrome 21615636 CTDP1Congenital cataracts, facial dysmorphism, and neuropathy[qgenomics.com] LCD type II (Meretoja syndrome) • Systemic amyloidosis - skin, cranial nerves and cornea • Gelsolin gene 31. • LCD types III and IIIA present later in life with thicker linear[slideshare.net] Reis-Bücklers corneal dystrophy Reis-Bücklers corneal dystrophy.[en.wikipedia.org]

    Missing: WITH
  • Familial Non-Neuropathic Amyloidosis

    Boysen G et al. (1979) Familial amyloidosis with cranial neuropathy and corneal lattice dystrophy. [ ] 86.[moldiag.com] Nerve conduction studies confirmed bilateral sensory-motor neuropathy ( Table 1 ).[dovepress.com] […] with TTR amyloidosis.[ttrstudy.com] […] of these rare motor-predominant neuropathy cases associated with the TTR mutation were initially suspected of having motor neuron disease, especially given the affiliated cranial[ng.neurology.org] Type 4 manifests with cranial nerve involvement and corneal dystrophy.1 Our patient had features of type 1 FAP.[japi.org] Disorders (270-279) Related Descriptions: AA amyloid nephropathy AA amyloidosis AD type amyloidosis Age-related amyloidosis AL amyloid nephropathy AL amyloidosis Amyloid corneal[emedcodes.com] ]), Gerstmann-Sträussler-Scheinker syndrome, Creutzfeldt-Jakob disease (prion), medullary carcinoma of the thyroid (procalcitonin), and various types of lattice corneal dystrophy[ommbid.mhmedical.com]

    Missing: WITH
  • Corneal Dystrophies

    In this chapter, we attempt to highlight the histological features of corneal dystrophies from the cumulative evidence obtained from the study of corneal buttons, enucleated[ncbi.nlm.nih.gov] dystrophies with new genetic, clinical, and pathologic information.[ncbi.nlm.nih.gov] In vivo confocal microscopy showed signs of postoperative corneal stromal neuropathy.[ncbi.nlm.nih.gov] We present the first histopathologic report of keratoconus and bilateral lattice-granular corneal dystrophies occurring in the same patient.[ncbi.nlm.nih.gov] TMAO reduced amyloid aggregation caused by Arg-124 mutants, which suggests a potential chemical-based treatment for CDs.[ncbi.nlm.nih.gov] LCD type II is a systemic amyloidosis syndrome known as Meretoja syndrome []affecting the skin, cranial nerves and cornea.[webeye.ophth.uiowa.edu] (Optic Neuropathy, Ischemic) Anterior Uveitides (Uveitis, Anterior) Anton Syndrome (Blindness, Cortical) Aphakia Aphakia, Postcataract Apparatus Disease, Lacrimal (Lacrimal[provisu.ch]

    Missing: WITH
  • Cranial Neuropathy

    […] were used to study the nature of the amyloid deposits in the Finnish type-familial amyloid polyneuropathy (FAP) type IV, which is characterized by cranial neuropathy and corneal[ncbi.nlm.nih.gov] Cranial neuropathy is usually idiopathic and familial cases are uncommon. We describe a family with 5 members with cranial neuropathy over 3 generations.[ncbi.nlm.nih.gov] We report 6 patients for whom cranial neuropathy was a major manifestation of primary amyloidosis. In 3 of the 6, multiple cranial nerves were involved.[ncbi.nlm.nih.gov] The right corneal reflex was preserved. She had mild gait ataxia, but otherwise the remaining neurological examination was normal.[nzma.org.nz] Apart from in oculopharyngeal muscular dystrophy, it is relatively rare as a sole presenting symptom although occasionally this is seen in motor neurone disease, myasthenia[oxfordmedicine.com] Form-deprivation amblyopia results when the ocular media become opaque such as is the case with cataracts or corneal scarring from forceps injuries during birth.[flashcardbook.com] Fortnightly Review: Reflex sympathetic dystrophy. BMJ 1995; 310:1645–1648. PubMed Google Scholar 41. Bhatia K P, Marsden C D. Reflex sympathetic dystrophy.[link.springer.com]

    Missing: WITH
  • Lattice Corneal Dystrophy Type 3A

    Lattice corneal dystrophy type IIIA definition of lattice corneal dystrophy type IIIA by Medical dictionary (redirected from lattice corneal dystrophy type IIIA ) corneal[medical-dictionary.thefreedictionary.com] 3385 Leber hereditary optic neuropathy with dystonia 3386 Leber miliary aneurysm 3387 Ledderhose dise as e 3388 Left ventricular noncompaction 3389 Left-sided gallbladder[yumpu.com] Definition A form of lattice corneal dystrophy, a class of inherited stromal amyloidoses characterized by pathognomonic branching lattice figures in the cornea.[uniprot.org] LCD type II is a systemic amyloidosis syndrome known as Meretoja syndrome []affecting the skin, cranial nerves and cornea.[webeye.ophth.uiowa.edu] "Severe ataxia with neuropathy in hereditary gelsolin amyloidosis: a case report". Amyloid. 14 (1): 89–95. doi : 10.1080/13506120601116393. PMID 17453628.[en.wikipedia.org] Histopathologic examination revealed accumulations of varying sized amyloid deposits in the stroma and ribbons of amyloid between the stroma and Bowman's layer typical of[ncbi.nlm.nih.gov] Alagille Syndrome 2 ALGS2 610205 Genetic Test Registry Amyloidosis, Finnish Type Amyloid Cranial Neuropathy With Lattice Corneal Dystrophy Amyloidosis Due To Mutant Gelsolin[ukgtn.nhs.uk]

    Missing: WITH
  • Hereditary Corneal Dystrophy

    Abstract A family is described in which four of six siblings have congenital hereditary corneal dystrophy associated with esotropia.[ncbi.nlm.nih.gov] The R124C mutation was detected in 1 unaffected 10-year-old individual and in 24 patients from 8 families with lattice corneal dystrophy.[karger.com] 9q34 Associated with familial amyloid polyneuropathy Amyloid is derived from fragment of mutated gelsolin Lattice type III: Autosomal recessive Amyloid deposits thicker than[pathologyoutlines.com] Lattice dystrophy type II (Familial amyloidosis with lattice dystrophy, Meretoja syndrome) Mask-like facies Mask-like faciesl Blepharochalasis, Floppy ears Protruding lips Cranial[slideshare.net] 371.81 Corneal anesthesia and hypoesthesia 371.82 Corneal disorder due to contact lens 371.89 Other corneal disorders 371.9 Unspecified corneal disorder[healthprovidersdata.com] Abstract Corneal discs from 10 cases of posterior polymorphous dystrophy (PPD) and 20 cases of congenital hereditary endothelial dystrophy (CHED) were compared and contrasted[nature.com] Unlike LCD type 1, systemic findings are present and include paralysis of cranial nerves, notably the facial nerve and peripheral nerves, dry skin, a “masklike” facies, autonomic[entokey.com]

    Missing: Neuropathy WITH

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