What is the Leber congenital amaurosis?
Leber congenital amaurosis (LCA) is a rare type of inherited eye disorder that causes severe vision loss at birth. It is the most common cause of inherited blindness in childhood, and is found in two to three out of every 100,000 babies.
What are the characteristics of Leber congenital amaurosis?
Leber congenital amaurosis (LCA) is an eye disorder that primarily affects the retina. People with this condition typically have severe visual impairment beginning in infancy. Other features include photophobia, involuntary movements of the eyes ( nystagmus ), and extreme farsightedness.
What is Leber congenital amaurosis caused by?
When Leber congenital amaurosis is caused by mutations in the CRX or IMPDH1 genes, the disorder has an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means one copy of the altered gene in each cell is sufficient to cause the disorder.
How was Leber congenital amaurosis discovered?
German Ophthalmologist Theodor Leber first described the dystrophy in 1869 in a blind child with wandering nystagmus, amaurotic pupils and congenital retinitis pigmentosa. In 1957, a non-recordable ERG was identified as a common feature essential to diagnosis of LCA.
Is Leber congenital amaurosis monogenic?
LCA is a monogenic disease and at least 27 genes are implicated. Changes (mutations) in these genes can account for about 80-90% of diagnosed cases of LCA. The genes responsible for the remaining 10-20% of diagnoses are not known. LCA is usually inherited as an autosomal recessive genetic condition.
What is Leber’s disease?
Leber hereditary optic neuropathy (LHON) is an inherited form of vision loss. Although this condition usually begins in a person’s teens or twenties, rare cases may appear in early childhood or later in adulthood. For unknown reasons, males are affected much more often than females.
Is Leber disease inherited?
What is Leber congenital amaurosis?
Leber congenital amaurosis (LCA) is an eye disorder that primarily affects the retina.People with this condition typically have severe visual impairment beginning in infancy. Other features include photophobia, involuntary movements of the eyes (nystagmus), and extreme farsightedness. The pupils also do not react normally to light.
When was Leber’s disease first described?
It is the most severe retinal dystrophy causing blindness by the age of 1 year. The disease was first described by Theodor Karl Gustav von Leber (February 29, 1840 – April 17, 1917) in 1869. It should not be confused with Leber Hereditary Optic Neuropathy described by the same physician in 1871.
Which autofluorescence findings are characteristic of LCA?
Amount of autofluorescence in LCA varies by subtype. For example, autofluorescence is normal in GUCY2D mutation but absent in RPE65 mutations. OCT is high resolution cross sectional images of retinal architecture. In LCA, retinal atrophy is common.