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Leber Congenital Amaurosis Typ 14

Leber Congenital Amaurosis 14


Presentation

  • Patients with GUCY2D mutations present with very slow progressive morphological degeneration and a mostly functional defect.[orpha.net]
  • Subtle loss of pigmentation was present in the retinal periphery Case 2 The younger sister presented with nystagmus at 4 months of age. Examination revealed swirling, searching nystagmus.[surgicalneurologyint.com]
  • Both variants were thus considered to be likely pathogenic; however, this was not able to be confirmed by the present study.[nature.com]
  • The present diagnosis of Leber’s congenital amaurosis is not a clinical syndrome but an aspecific symptom complex. 1979 S. Karger AG, Basel Article / Publication Details First-Page Preview[karger.com]
  • Some syndromic inherited disorders may present similar ocular characteristics to LCA.[wjgnet.com]
Pallor
  • Affiliated tissues include retina , bone and eye , and related phenotypes are rod-cone dystrophy and optic disc pallor UniProtKB/Swiss-Prot : 75 Leber congenital amaurosis 14: A severe dystrophy of the retina, typically becoming evident in the first years[malacards.org]
  • Optic discs are best described clinically by the separate characteristics of cupping and pallor.[healio.com]
  • Fundus picture of both the siblings revealed presence of mild disc pallor, arteriolar attenuation and peripheral RPE mottling. Phenotype of the MERTK mutation positive arRP family.[journals.plos.org]
  • In the other four individuals retinal vessel attenuation was noticed and “waxy” optic nerve pallor was seen only in the eldest affected brother.[bjo.bmj.com]
Physician
  • Herodotus, the fifth century BC Greek historian, comments on the specialization of the physicians: “Each physician treats just one disease.[books.google.ro]
  • *Medscape Business of Medicine Academy Survey, September 2015 Learn from Experienced Professionals Courses were developed especially for physicians by business health experts and experienced physicians.[medscape.com]
  • This book is a valuable resource for experimental geneticists, physicians, and research workers.[books.google.it]
  • It should not be confused with Leber Hereditary Optic Neuropathy described by the same physician in 1871.[imoe.it]
Falling
  • MyBioSource and its authorized distributors reserve the right to refuse to process any order where we reasonably believe that the intended use will fall outside of our acceptable guidelines.[mybiosource.com]
  • Any variants that fall outside these regions are not analyzed. Any specific limitations in the analysis of these genes are also listed in the table below.[invitae.com]
Pathologist
  • PMID: 24830548 Assay Assay and technical information Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion[invitae.com]
Hypertension
  • Munich MARCELLA RIETSCHEL 1898 Department of Psychiatry 1899 SOPHIE NICOLE Germany 1901 ALFRIED KOHLSCHÜTTER 1918 GIORA Z FEUERSTEIN Department of Dermatology Venerology and Allergy University Hospital SchleswigHolstein 1925 Division of Nephrology and Hypertension[books.google.com]
Photophobia
  • Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus.[malacards.org]
  • Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia, and keratoconus. Visual acuity is rarely better than 20/400.[ncbi.nlm.nih.gov]
  • Amaurosis Hypertrichosis Leber congenital amaurosis 1 A Leber congenital amaurosis characterized by severe cone-rod dystrophy with photophobia, high hyperopia, and poor but stable vision with no visual improvement and that has_material_basis_in mutation[rgd.mcw.edu]
  • No serious adverse events occurred, although we noted transient headaches (11 patients), photophobia (11 patients), reduction in serum HDL concentrations (four patients), and increases in serum triglycerides (eight patients) and aspartate aminotransferase[jhu.pure.elsevier.com]
Night Blindness
  • It was only within the last century, however, that we have recognized the importance of vitamin A to the function of photoreceptors and visual acuity and that its deficiency can result in night blindness.[books.google.ro]
  • • Two siblings with autosomal-recessive congenital stationary night blindness were clinically blind in infancy.[jamanetwork.com]
  • Night blindness is the predominant symptom of this type of LCA[ 2 ].[wjgnet.com]
  • Presenting features of RPE65-associated retinitis pigmentosa include night blindness, which usually begins in early childhood, and progresses to tunnel vision and blindness.[sema4genomics.com]
Strabismus
  • Strube OUP USA, 27.09.2012 - 1386 Seiten For over the past ten years Pediatric Ophthalmology and Strabismus has become the leading textbook in the specialty of pediatric ophthalmology and strabismus.[books.google.de]
  • Other associated eye anomalies included cataracts, keratoconus, ptosis, and strabismus. The most frequent systemic associations were mental retardation, cystic renal disease, skeletal disorders, and hydrocephalus.[jamanetwork.com]
  • Sluggish pupillary responses, roving eye movement, photophobia, high hyperopia, nystagmus, convergent strabismus, or keratoconus may occur depending on the genetic cause.[orpha.net]
  • Other symptoms may include crossed eyes (strabismus), unusual sensitivity to light (photophobia); abnormal protrusion of the anterior, hearing loss, mental retardation, delays in the attainment of skills that need coordination of mental and psychomotor[altiusdirectory.com]
  • In a recent study published in the current issue of the Journal of AAPOS , the Official Publication of the American Association of Pediatric Ophthalmology and Strabismus, researchers from the University of Iowa Hospitals and Clinics, Iowa City, and The[sciencedaily.com]
Nystagmus
  • Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus.[malacards.org]
  • Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia, and keratoconus. Visual acuity is rarely better than 20/400.[ncbi.nlm.nih.gov]
  • He also suffered from nystagmus, the oculo-digit sign and an absent electroretinogram.[cags.org.ae]
  • Subtle loss of pigmentation was present in the retinal periphery Case 2 The younger sister presented with nystagmus at 4 months of age. Examination revealed swirling, searching nystagmus.[surgicalneurologyint.com]

Treatment

  • Barnstable Springer Science & Business Media , 6 nov. 2007 - 466 pagini For centuries, humans have tried to explain the complex process of vision and find effective treatments for eye diseases.[books.google.ro]
  • Food and Drug Administration (FDA) for the treatment of Leber Congenital Amaurosis (LCA) due to inherited mutations in LRAT and RPE65 genes and for the treatment of autosomal recessive Retinitis Pigmentosa (RP) due to inherited mutations in LRAT and RPE65[ir.novelion.com]
  • An Amazing Year This is the seventh in a series following the progress of Creed Pettit, a 9-year-old Florida third-grader, who completed treatment in March with the breakthrough gene-therapy drug called [...][sofiasees.org]
  • Early funding from the Foundation helped make this treatment possible. Treatments for forms of LCA caused by other mutated genes are in the development pipeline.[blindness.org]
  • Cartoon of photoreceptor cells before (left) and after (right) 'antisense' treatment.[fightforsight.org.uk]

Prognosis

  • Prognosis - Leber congenital amaurosis Not supplied. Treatment - Leber congenital amaurosis Resources - Leber congenital amaurosis Not supplied.[checkorphan.org]
  • […] and Causes The prognosis varies depending on the symptoms of the stage or type.[proschool.weebly.com]
  • Diagnosis and Prognosis: The diagnosis requires an eye examination by an ophthalmologist.[disorders.eyes.arizona.edu]

Etiology

  • Etiology To date, mutations in genes encoding retina specific proteins have been reported to cause LCA.[orpha.net]
  • The association further suggests a genetic etiology of CMI.[surgicalneurologyint.com]
  • Etiology is similarly unclear but also likely due to a combination of genetic, environmental and toxic factors. Management To date no subastanti treatment or cure for LCA exists .[imoe.it]
  • (Etiology) Leber’s Congenital Amaurosis is a genetic disorder in which the function of the retina is impaired. The normal functioning of retina is sustained by the intricate interplay between many proteins within the retinal cells.[dovemed.com]

Epidemiology

  • Summary Epidemiology The prevalence of LCA is 1/50,000 - 1/33,000 live births and accounts for 5% of all retinal dystrophies and 20% of blindness in school age children.[orpha.net]
  • By current epidemiological estimates, there are at least 300,000 patients with RP worldwide, of which less than 5% carry the inherited deficiencies of either RPE65 or LRAT.[ir.novelion.com]
  • A recent epidemiological survey in Danish population has revealed the prevalence of generalized retinal dystrophies as 1:3454 [ 9 ].[journals.plos.org]
  • Epidemiology The estimated birth prevalence of LCA is two to three per 100,000 births . The condition is the most common cause of inherited blindness in childhood and constitutes more than 5% of all retinal dystrophies .[imoe.it]
  • Targeted exon sequencing successfully discovers rare causative genes and clarifies the molecular epidemiology of Japanese deafness patients. PloS One. 8 , e71381, (2013). 47. Schulz, H. L. et al .[nature.com]
Sex distribution
Age distribution

Pathophysiology

  • Pathophysiology The pathophysiology of LCA is related to the inability of the eye to undergo phototransduction due to a disruption of the Visual Cycle .[imoe.it]
  • Until now, however, little was known about the pathophysiology of the disease, but LCA is usually regarded as the consequence of either impaired development of photore-ceptors or extremely early degeneration of cells that have developed normally 9.[nature.com]
  • Gene therapy in LCA Recent advances in the knowledge of the genes and the pathophysiology associated with mutations in those genes, has opened a new era of mechanism-based molecular therapeutics in ophthalmology.[wjgnet.com]

Prevention

  • Leber's amaurosis, Congenital retinal blindness, Congenital absence of the rods and cones, Leber's congenital tapetoretinal degeneration, LCA Symptoms - Leber congenital amaurosis Causes - Leber congenital amaurosis Prevention - Leber congenital amaurosis[checkorphan.org]
  • […] accordance with Regulation (EC) No 141/2000 of 16 December 1999, the COMP adopted a positive opinion on 6 February 2014 recommending the granting of this designation. the seriousness of the condition; the existence of alternative methods of diagnosis, prevention[ema.europa.eu]
  • Secondary complications of Leber’s congenital amaurosis can be avoided by preventing children from constantly poking and pressing their eyes.[altiusdirectory.com]

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