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Leber Congenital Amaurosis Type 9



  • QRX-411 and QRX-421 are candidate molecules that will be presented in two oral presentations. QRX-411 for the c.7595-2144A G mutation will be presented on Monday, May 8, 2017 from 8:45 – 9:00am ET.[globenewswire.com]
  • Case presentation An 18-year old Syrian female patient presented with bilateral gradual loss of vision since early childhood, with recent deterioration in her left eye.[bmcresnotes.biomedcentral.com]
  • Some syndromic inherited disorders may present similar ocular characteristics to LCA.[wjgnet.com]
  • Punctate yellow dots and associated pigment mottling were present in the macula and extended into the periphery of both eyes. The vessels were of normal caliber in both eyes.[webeye.ophth.uiowa.edu]
  • There are many different types of LCA and the disease will present differently in different patients.[wonderbaby.org]
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  • It isn’t often that a brain scan chokes me up, but this one did. The fMRI shows area 17 of the visual cortex coming to life in a woman born with Leber congenital amaurosis type 2 (LCA2).[rickilewis.com]
  • Often the child will poke, press and rub the eyes to stimulate the retina to produce light (Franceschetti’s oculo-digital sign).This activity may cause the eyes to become sunken or deep set (enophthalmos).[rarediseases.org]
  • Repeated pressure on the eye may also be responsible for the relative enophthalmos often seen in these patients. The ERG is reduced or absent early and permanently.[disorders.eyes.arizona.edu]
  • Eye poking was present in 17 patients and enophthalmos in seven patients (Patients 1, 2, 3, 5, 12, 13, and 17). Photophobia was not recorded as an early symptom in patients with vision.[molvis.org]
  • Eye poking, enophthalmos, hyperopia, keratoconus and juvenile cataract are frequently observed[ 86 ]. Photophobia is present later in life, and night blindness has sometimes been described.[wjgnet.com]
Cognitive Deficit
  • Perhaps 20% of patients are mentally retarded or have significant cognitive deficits. Genetics Leber congenital amaurosis is genetically heterogeneous with at least 18 known gene mutations associated with the phenotype.[disorders.eyes.arizona.edu]
Pendular Nystagmus
  • Main clinical features congenital non evolutive blindness, with pendular nystagmus, anterior keratoconus, roving eye movements, absent ocular pursuit and eye poking, severe photophobia, hypermetropia, normal fundus at birth followed by salt and pepper[genatlas.medecine.univ-paris5.fr]
  • Most children remain calm throughout the ERG, but some can become agitated. Because of this, some doctors will use full sedation. Still others don’t use sedation at all. You’ll have to talk to your doctors about this.[wonderbaby.org]
  • The symbolic boy is Corey Haas, who, four days after gene therapy in 2008 at age 8, screamed when he saw the sun at the Philadelphia zoo, his shadow world suddenly brightened.[rickilewis.com]


  • 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]
  • Put the very latest scientific and genetic discoveries , diagnostic imaging methods, drug therapies, treatment recommendations, and surgical techniques to work in your practice.[books.google.ro]
  • Results of an ongoing clinical trial suggest that a gene therapy treatment for Leber congenital amaurosis (LCA) can successfully improve eyesight and retinal sensitivity, though these benefits may diminish with time.[raredr.com]
  • Leber's Congenital Amaurosis Treatment There is no particular treatment for Leber’s congenital amaurosis. Individuals with this disorder can take assistance by the use of low-vision aids condition, they have adequate vision.[altiusdirectory.com]
  • Treatment Treatment Options: Until recently, no treatment was available for LCA. However, results from early clinical trials with adeno-associated virus vector mediated gene therapy for RPE65 mutations in LCA 2 show promise.[disorders.eyes.arizona.edu]


  • Prognosis - Leber congenital amaurosis 9 Not supplied. Treatment - Leber congenital amaurosis 9 Not supplied. Resources - Leber congenital amaurosis 9 Not supplied.[checkorphan.org]
  • Prognosis Nystagmus intensity (frequency x amplitude) often improves spontaneously with increasing age but depends on etiology.[emedicine.medscape.com]
  • However, we have also learned that along with the enzymatic dysfunction of RPE65 that disrupts the visual cycle, there is also degeneration of photoreceptors which continues after treatment and the long term prognosis remains guarded.[disorders.eyes.arizona.edu]
  • LCA has a very guarded prognosis, but it can be even worse when a complication such as coat’s like vasculopathy accompanies the case.[bmcresnotes.biomedcentral.com]
  • This will lead to better prognosis and treatment options for LCA patients. Currently, gene therapy for RPE65-LCA2 patients is a fact, and new similar emerging therapies will be soon available.[wjgnet.com]


  • Prognosis Nystagmus intensity (frequency x amplitude) often improves spontaneously with increasing age but depends on etiology.[emedicine.medscape.com]
  • In conclusion, systematic analysis of the full frequency spectrum of variation in the 15 selected genes not only gives us an overview of the molecular etiology of LCA in Chinese but also provides useful biomarkers for genetic counseling.[journals.plos.org]


  • Summary: RPE65-associated Leber Congenital Amaurosis (LCA) EPIDEMIOLOGY 1 of 81,000 births have LCA RPE65 accounts for 8% of these SIGNS Poor fixation as an infant Nystagmus Eye rubbing (Oculodigital reflex) Keratoconus Pink disks Sluggish pupils Variable[webeye.ophth.uiowa.edu]
  • Relevant External Links for LCA5 Genetic Association Database (GAD) LCA5 Human Genome Epidemiology (HuGE) Navigator LCA5 Atlas of Genetics and Cytogenetics in Oncology and Haematology: LCA5 No data available for Genatlas for LCA5 Gene Mutations in LCA5[genecards.org]
  • Epidemiology Frequency United States In one US study, the annual incidence of pediatric nystagmus was estimated to be 6.72 per 100,000 persons younger than 19 years, with infantile nystagmus comprising 87% of the study patients. [2] Mortality/Morbidity[emedicine.medscape.com]
Sex distribution
Age distribution


  • Comprehensively updated to reflect everything you need to know regarding retinal diagnosis, treatment, development, structure, function, and pathophysiology, this monumental ophthalmology reference work equips you with expert answers to virtually any[books.google.ro]
  • 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]
  • The process begins with definition of an unmet clinical need and is combined with insights into the pathophysiologic nature of disease.[circres.ahajournals.org]
  • Pathophysiology Few patients are noted to have nystagmus onset at birth. The term infantile is probably more accurate than congenital and includes nystagmus that presents within the first 6 months of life.[emedicine.medscape.com]


  • Symptoms - Leber congenital amaurosis 9 Causes - Leber congenital amaurosis 9 Prevention - Leber congenital amaurosis 9 Not supplied. Diagnosis - Leber congenital amaurosis 9 Not supplied. Prognosis - Leber congenital amaurosis 9 Not supplied.[checkorphan.org]
  • Secondary complications of Leber’s congenital amaurosis can be avoided by preventing children from constantly poking and pressing their eyes.[altiusdirectory.com]
  • […] detachment in both eyes with the right eye being the better one, a PPV, endolaser and silicone oil tamponade was done for the right eye trying to reattach the retina with resultant anatomical stabilization defined by maintaining attached retina and prevention[bmcresnotes.biomedcentral.com]
  • ., anonymous) patient information to study conditions and identify targets for treatments, preventions and cures.[blindness.org]
  • Araki T et al. (2004) Increased nuclear NAD biosynthesis and SIRT1 activation prevent axonal degeneration. [ ] 12. MacDonald JM et al. (2006) The Drosophila cell corpse engulfment receptor Draper mediates glial clearance of severed axons. [ ] 13.[moldiag.com]

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