Filter by keywords:



Filtering documents. Please wait...

1/11. Novel de novo mutation in CRX gene in a Japanese patient with leber congenital amaurosis.

    PURPOSE: To report a novel de novo mutation in the cone-rod homeobox (CRX) gene in a Japanese patient with leber congenital amaurosis (LCA). methods: The CRX gene was analyzed by direct genomic sequencing in a patient with LCA and in his healthy parents. A complete ophthalmologic examination was performed on the family. RESULTS: A heterozygotic deletion of G at nucleotid 520 in CRX, predicting a frameshift in codon 174 and a premature termination of translation [Ala174(1-bp del)], was identified in the proband. The mutation was not present in his unaffected parents. CONCLUSION: A novel de novo mutation in CRX was found in a Japanese patient with LCA.
- - - - - - - - - -
ranking = 1
keywords = leber, leber congenital amaurosis, congenital amaurosis, amaurosis
(Clic here for more details about this article)

2/11. Chiasmal high signal on magnetic resonance imaging in the atrophic phase of leber hereditary optic neuropathy.

    A 30-year-old man with Leber hereditary optic neuropathy mutation 11778 displayed no magnetic resonance imaging abnormalities during the acute phase of visual loss in the right eye. Three months later, during the acute phase of visual loss in the left eye, magnetic resonance imaging showed T2 hyperintense signal changes on the right half of the optic chiasm. Six months later, magnetic resonance imaging revealed T2 hyperintense signal changes on both sides of the optic chiasm. This is the first reported case of optic chiasmal involvement on magnetic resonance imaging in the atrophic phase of Leber hereditary optic neuropathy.
- - - - - - - - - -
ranking = 0.46556639032266
keywords = leber
(Clic here for more details about this article)

3/11. leber congenital amaurosis associated with optic disk neovascularization and vitreous hemorrhage.

    PURPOSE: To report an unusual case of optic disk neovascularization and vitreous hemorrhage associated with leber congenital amaurosis (LCA). DESIGN: Interventional case report. methods: A 16-year-old Caucasian girl with a history of LCA presented with decreased vision in her left eye, diffuse retinal pigmentary abnormalities characteristic of LCA, and hemorrhage over the left optic disk and macula. Six months of follow-up revealed optic disk neovascularization. A small amount of neovascularization was noted in the right eye at 6 months. RESULTS: An extensive systemic evaluation indicated no other cause for the neovascularization. Panretinal photocoagulation was performed in both eyes, and subsequently the neovascularization regressed. CONCLUSIONS: Leber congenital amaurosis like retinitis pigmentosa, can rarely be associated with neovascularization of the disk, which is amenable to treatment with peripheral photocoagulation if it does not spontaneously regress.
- - - - - - - - - -
ranking = 0.12501158865898
keywords = congenital amaurosis, amaurosis
(Clic here for more details about this article)

4/11. An unusual retinal vascular morphology in connection with a novel AIPL1 mutation in Leber's congenital amaurosis.

    AIMS: To report a case of an unusual retinal vascular morphology in connection with a novel AIPL1 mutation in a patient with Leber's congenital amaurosis (LCA). methods: A patient with LCA and no light perception from birth had both eyes enucleated at the age of 22 years because of excruciating pain. mutation analysis was performed on known LCA genes. The eyes were processed for casts of the vascular tree, routine histopathology, and electron microscopy. RESULTS: A novel H82Y (244C-->T) mutation and a H90D (286G-->C) polymorphism were detected in exon 2 of the AIPL1 gene. Both the cast and the histopathological examination showed dilated retinal vessels, mainly venules, primarily localised in the posterior pole. In the mid-peripheral retina the density of capillaries on the arteriolar side of the microcirculatory units was significantly decreased. The vascular system was seen to gradually attenuate towards the retinal periphery, and to stop at a zone located approximately 4 mm from the ora serrata along the whole circumference. In this zone pigmented aggregates characteristic of retinitis pigmentosa were seen to ensheath the retinal vessels. The photoreceptors were almost totally absent and retinal gliosis was present. A decreased number of ganglion cells and an increased vacuolisation of the nerve fibre layer were observed. The retinal pigment cells and Bruch's membrane appeared normal in all regions. CONCLUSION: An unusual retinal vascular morphology in an LCA patient is presented and possible pathogenic mechanisms of the findings are discussed.
- - - - - - - - - -
ranking = 0.10417632388248
keywords = congenital amaurosis, amaurosis
(Clic here for more details about this article)

5/11. Clinical variability in maternally inherited leber hereditary optic neuropathy with the G14459A mutation.

    Spasticity and dystonia have been associated with mitochondrial (mt) dna mutations at A11696G, G14459A, and T14596A. We describe the clinical features and molecular analysis of two Caucasian pedigrees with the 14,459 guanosine (G) --> adenine (A) transition. The maternally inherited Leber hereditary optic neuropathy (LHON) phenotypes showed extreme clinical variability and the only screening test that was abnormal in the patient with spasticity/dystonia was a high T2 signal in the putamen bilaterally. The male patient in the second pedigree showed features of optic neuropathy without spasticity/dystonia. These results further support that the 14,459 G --> A transition mutation is causally related to LHON and spasticity/dystonia.
- - - - - - - - - -
ranking = 0.46556639032266
keywords = leber
(Clic here for more details about this article)

6/11. Thirty-year follow-up of a patient with leber congenital amaurosis and novel RPE65 mutations.

    PURPOSE: To present long-term follow-up on a North American patient with leber congenital amaurosis (LCA) and novel compound heterozygous mutations in the RPE65 gene. DESIGN: Case report. methods: RPE65 mutation screening and search for sequence changes using Single Strand Conformation Polymorphism and direct dna sequencing. Ophthalmic examination and electrophysiologic testing. RESULTS: A 35-year-old female carried two RPE65 mutations: a maternal 961A>T (K303X) nonsense mutation and a paternal 1346A>G (Y431C) missense mutation. She had severe visual deficits and an absence of rod and cone Electroretinogram responses. visual acuity of 20/60 both eyes and normal color recognition during early childhood declined to 2/200 in the right eye and 1/200 in the left eye at the age of 35. CONCLUSIONS: The RPE65 mutations K303X and Y431C in compound heterozygous form cause progressive visual compromise that starts in childhood and advances to severe visual loss by the fourth decade of life.
- - - - - - - - - -
ranking = 1
keywords = leber, leber congenital amaurosis, congenital amaurosis, amaurosis
(Clic here for more details about this article)

7/11. PEX1 deficiency presenting as leber congenital amaurosis.

    Peroxisome biogenesis disorders result from defects in peroxin proteins involved in peroxisomal matrix and membrane protein import. Peroxins are encoded in peroxin protein genes; to date, the PEX genes responsible for all 12 peroxisome biogenesis disorders complementation groups are known. Peroxin protein 1 deficiency associated with complementation group 1 is responsible for disease in approximately two thirds of all patients with a peroxisome biogenesis disorder. Their phenotypes range from severe to mild, and it appears to be a phenotype-genotype relationship. This case report describes a patient with peroxin protein 1 deficiency presenting as leber congenital amaurosis, in whom the diagnosis was questioned at the age of 2 years when seizures first appeared and mild facial dysmorphia became evident.
- - - - - - - - - -
ranking = 0.10417632388248
keywords = congenital amaurosis, amaurosis
(Clic here for more details about this article)

8/11. Leber's amaurosis with nephronophthisis and congenital hepatic fibrosis.

    We describe a case of Leber's amaurosis in a one-year-old girl with unusual presentations. She presented with small clue like tachypnea and nystagmoid novement of eyeswhich when pursued revealed involvement like hepatic, renal and retina.
- - - - - - - - - -
ranking = 0.001302007080175
keywords = amaurosis
(Clic here for more details about this article)

9/11. A homozygosity-based search for mutations in patients with autosomal recessive retinitis pigmentosa, using microsatellite markers.

    PURPOSE: To identify possible mutations in known candidate genes in patients with autosomal recessive (ar) and simplex retinitis pigmentosa (RP), by using an established strategy of flexible, multiplexed, microsatellite-based homozygosity mapping. methods: A total of 78 microsatellite markers corresponding to 16 genes known to be responsible for arRP were selected and used in 18 multiplex amplifications, followed by genotyping. Twelve consanguineous probands and 47 nonconsanguineous probands (59 patients with arRP or simplex RP) agreed to the screening. RESULTS: Of the 59 probands examined, 24 had a mean of 1.4 genes showing homozygosity for all markers within the corresponding gene region. Subsequent direct sequencing revealed three homozygous mutations. Two of them were novel mutations in the genes TULP1 (c.1145T-->C, F382S) and CNGB1 (c.3444 1G-->A). The other was a mutation in RPE65 (c.1543C-->T, R515W), which is known to cause Leber's congenital amaurosis. The clinical features of each patient, together with the cosegregation analysis, strongly support the pathogenicity of these mutations. CONCLUSIONS: This systematic approach facilitated the identification of genes that cause arRP, and the results provide a widened spectrum of the mutation severity associated with a broader range of phenotypic manifestations of arRP.
- - - - - - - - - -
ranking = 0.020835264776496
keywords = congenital amaurosis, amaurosis
(Clic here for more details about this article)

10/11. Relative post-mortem sparing of afferent pupil fibers in a patient with 3460 Leber's hereditary optic neuropathy.

    BACKGROUND: Relative sparing of the pupillary reflexes in patients with leber's hereditary optic neuropathy (LHON) has been observed clinically. This study sought to test histologically whether retino-pupillary fibers are spared in LHON. methods: Di-I, a fluorescein dye that allows anterograde labeling of axons, was injected into the brachium of the superior colliculus in post-mortem brain from a patient diagnosed with LHON (3460 mutation) and a normal control brain. After 4 weeks, serial fragmatome sections were obtained in the pretectal area and further stained with propidium iodide (PI stains dna) to delineate the pretectal nuclei in the dorsal midbrain. Examination was performed under a confocal microscope. Optic nerves obtained from the above subjects were cut, mounted and stained with p-phenylenediamine (PPD) and trichrome stain for digital morphometry. RESULTS: Di-I-labeled fibers were visible on all sections from the superior colliculus to the pretectum in the LHON and the control specimens, as were the nuclei in the cell bodies stained with PI. There was mild attenuation of the afferent pretectal fibers in LHON, but this was not as dramatic as the attenuation of the total population of fibers in the LHON optic nerve. CONCLUSIONS: In our LHON patient, the preservation of retinofugal fibers to the pretectum lends support to the clinical observation of relatively preserved pupillary function in LHON.
- - - - - - - - - -
ranking = 0.11639159758067
keywords = leber
(Clic here for more details about this article)
| Next ->


Leave a message about 'Optic Atrophy, Hereditary, Leber'


We do not evaluate or guarantee the accuracy of any content in this site. Click here for the full disclaimer.