Disease Information for Amaurosis, congenital, Leber

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Clinical Manifestations
Signs & Symptoms
Idiocy/signs
Mental Deficiency Child
Papilledema on exam
Cherry red spot/retinal sign
Eye symptoms/signs
Disease Progression
Course/Chronic disorder
Course/Chronic only
Demographics & Risk Factors
Population Group
Child
Infant
Population/Pediatrics population
Sex & Age Groups
Population/Child
Population/Child-Infant Only
Population/Children/all
Population/Infant
Associated Diseases & Rule outs
Rule Outs
Optic neuritis
Associated Disease & Complications
Blindness in Children
Congenital Nystagmus
Mental retardation
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
CLASS/Neurologic (category)
CLASS/Eye involvement/disorder (ex)
CLASS/Eyes/accessory (category)
Pathophysiology
Pathophysiology/Ganglioside accumulation brain
Pathophysiology/Gene mutation Retinoic acid/Retina cells
Pathophysiology/Gene mutation RPE65
Process
PROCESS/Congenital/developmental (category)
PROCESS/Storage disorder (ex)
PROCESS/Cerebral lipidoses (ex)
PROCESS/Storage disorder/brain (ex)
PROCESS/Congenital eye disorder (ex)
Treatment
Surgical Procedures or Treatments
SX/Gene Therapy Eye
Definition

Leber"s Congenital Amaurosis; Congenital Absence of the Rods and Cones; Congenital Retinal Blindness; Congenital Retinitis Pigmentosa; LCA; Leber"s Amaurosis; Leber"s Congenital Tapetoretinal Degeneration; Leber"s Congenital Tapetoretinal Dysplasia; Leber"s Congenital Amaurosis (LCA) is a rare genetic eye disorder; Affected infants are often blind at birth or loss their sight within the first few of years of life; Other symptoms may include crossed eyes (strabismus); rapid, involuntary eye movements (nystagmus); unusual sensitivity to light (photophobia); clouding of the lenses of the eyes (cataracts); and/or abnormal protrusion of the front (anterior), clear portion of the eye through which light passes (cornea) (keratoconus); In addition, some infants may exhibit hearing loss, mental retardation, and/or a delay in the acquisition of skills that require the coordination of mental and muscular activity (psychomotor retardation); Leber’s Congenital Amaurosis is inherited as an autosomal recessive genetic trait-----[NORD 2005]-----------------------------

Leber"s congenital amaurosis;Leber’s abiotrophy; Leber’s Syndrome II;Amaurosis congenita, dysgenesis neuroepithelialis retinae, hereditary epithelial aplasia, heredoretinopathia congenitalis, optic atrophy-amaurosis-pituitary syndrome, pituitary-amaurosis syndrome, congenital amaurosis syndrome, neuroepithelial dysgenesis of retina, congenital amaurosis I and II, congenital retinal blindness, retinal aplasia, tapetoretinal dystrophy;

Syndrome characterised by severe visual deficiency, with total or nearly total blindness, present at birth or shortly thereafter; pendular or searching nystagmus, sunken eyeballs, photophobia, and the digito-ocular sign (Franceschetti-Leber phenomenon), with slowly progressive retinal atrophy; Cataract and keratoconus are variable components; Mental retardation, epileptic seizures, and hearing disorders frequently occur; Inheritance is autosomal recessive and heterogeneity is probable;

Leber congenital amaurosis is amongst the most common of genetic eye disorders; It may occur in several members of the same family; Both sexes affected; Males are usually affected with transmission through female members;

In his article of 1869 Leber used the term "retinitis pigmentosa with congenital amaurosis"; Many years later he distinguished this condition from Tay-Sachs disease and classic, undifferentiated retinitis pigmentosa;----

[whonamedit.com 2005]-------

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