Survey of genetic neuro-ophthalmic disorders.

No abstract is available for this paper.

• Publication year

  2003

• Venue

  Ophthalmology Clinics of North America

• Publication date

  2003-12-01

• Fields of study

  Medicine

• Identifiers
  DOI 10.1016/S0896-1549(03)00064-6PMID 14741000
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

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• Differential sublocalization of the dynamin-related protein OPA1 isoforms in mitochondria.

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• No colobomas in "renal coloboma" syndrome.

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• Fabry Disease, an Under-Recognized Multisystemic Disorder: Expert Recommendations for Diagnosis, Management, and Enzyme Replacement Therapy

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• Deletion of the OPA1 gene in a dominant optic atrophy family: evidence that haploinsufficiency is the cause of disease

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• Familial horizontal gaze palsy with progressive scoliosis maps to chromosome 11q23-25

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• Clinical and molecular features of adPEO due to mutations in the Twinkle gene.

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• Papillorenal syndrome in a Brazilian family.

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• A comprehensive survey of mutations in the OPA1 gene in patients with autosomal dominant optic atrophy.

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• Optic disc drusen, angioid streaks, and mottled fundus in various combinations in a Sicilian family

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• Abnormal mRNA splicing resulting from consensus sequence splicing mutations of ATP7B

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• Okihiro syndrome is caused by SALL4 mutations.

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• Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from mutations in SALL4, a new member of the SAL family.

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• Ocular motility in genetically defined autosomal dominant cerebellar ataxia.

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• The role of mtDNA background in disease expression: a new primary LHON mutation associated with Western Eurasian haplogroup J

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• Ophthalmologic Findings in Fifteen Patients with Wolfram Syndrome

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• OPA1 (Kjer type) dominant optic atrophy: a novel mitochondrial disease.

  2002cited by this paper
• The human dynamin‐related protein OPA1 is anchored to the mitochondrial inner membrane facing the inter‐membrane space

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• Papillorenal ("renal coloboma") syndrome.

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• Optic disc Drusen associated with trisomy 15q.

  2002cited by this paper
• Bilateral optic nerve atrophy in myotonic dystrophy.

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• OPA1 mutations in patients with autosomal dominant optic atrophy and evidence for semi-dominant inheritance.

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• A summary of 20 CACNA1F mutations identified in 36 families with incomplete X-linked congenital stationary night blindness, and characterization of splice variants

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• Heterozygous HESX1 mutations associated with isolated congenital pituitary hypoplasia and septo-optic dysplasia.

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• Redefining papillorenal syndrome: an underdiagnosed cause of ocular and renal morbidity.

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• Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy.

  2001cited by this paper
• Segregation patterns and heteroplasmy prevalence in Leber's hereditary optic neuropathy.

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• Mutation spectrum and splicing variants in the OPA1 gene

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• Presence of a major WFS1 mutation in Spanish Wolfram syndrome pedigrees.

  2001cited by this paper
• Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria

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• A frameshift mutation in exon 28 of the OPA1 gene explains the high prevalence of dominant optic atrophy in the Danish population: evidence for a founder effect

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• Homozygous mutations in ARIX(PHOX2A) result in congenital fibrosis of the extraocular muscles type 2

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• Myotonic Dystrophy Type 2 Caused by a CCTG Expansion in Intron 1 of ZNF9

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• Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North America

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• Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21.

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• OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28

  2000cited by this paper
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  2000cited by this paper
• A case-control study of tobacco and alcohol consumption in Leber hereditary optic neuropathy.

  2000cited by this paper
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  1999cited by this paper
• Autosomal dominant progressive external ophthalmoplegia

  1999cited by this paper
• Localization of a gene for Duane retraction syndrome to chromosome 2q31.

  1999cited by this paper
• Congenital motor nystagmus linked to Xq26-q27.

  1999cited by this paper
• Genetic heterogeneity of dominant optic atrophy, Kjer type: Identification of a second locus on chromosome 18q12.2-12.3.

  1999cited by this paper
• Truncating mutations in CCM1, encoding KRIT1, cause hereditary cavernous angiomas

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• HESX1: a novel gene implicated in a familial form of septo‐optic dysplasia

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• MRI of Wolfram syndrome (DIDMOAD)

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• Meiotic breakpoint mapping of a proposed X linked visual loss susceptibility locus in Leber's hereditary optic neuropathy.

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  1998cited by this paper
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• Corrigendum: Mutation of the gene in a family with optic nerve colobomas, renal anomolies and vesicoureteral reflux

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• An autosomal locus predisposing to multiple deletions of mtDNA on chromosome 3p.

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• Genomic structure of the human PAX2 gene.

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• No evidence of genetic heterogeneity in dominant optic atrophy.

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• Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux

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• Congenital fibrosis of the extraocular muscles (autosomal dominant congenital external ophthalmoplegia): genetic homogeneity, linkage refinement, and physical mapping on chromosome 12.

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• The oculopharyngeal muscular dystrophy locus maps to the region of the cardiac α and β myosin heavy chain genes on chromosome 14q11.2−q13

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• Autosomal dominant optic nerve colobomas, vesicoureteral reflux, and renal anomalies.

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• Correlation between the Clinical Symptoms and the Proportion of Mitochondrial DNA Carrying the 8993 Point Mutation in the NARP Syndrome

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