Usher syndrome clinical types I and II: Could ocular symptoms and signs differentiate between the two types?

Acta Ophthalmologica Scandinavica

Volumn 80, Issue 2, 2002, Pages 196-201

  Tsilou, Ekaterini T ^a   Rubin, Benjamin I ^a   Caruso, Rafael C ^a   Reed, George F ^a   Pikus, Anita ^b   Hejtmancik, James F ^a   Iwata, Fumino ^a   Redman, Joy B ^a   Kaiser Kupfer, Muriel I ^a  

^a NATIONAL EYE INSTITUTE   (United States)

^b NATIONAL INSTITUTE ON DEAFNESS AND OTHER COMMUNICATION DISORDERS   (United States)

Author keywords

Clinical study; Hearing deficit; Night blindness; Retinal degeneration; Retinitis pigmentosa; Usher syndrome; Vestibular problems

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; AUDIOLOGY; CATARACT; CHILD; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE SEVERITY; ELECTRORETINOGRAPHY; FEMALE; GENETIC COUNSELING; GENETIC HETEROGENEITY; HUMAN; INCIDENCE; MAJOR CLINICAL STUDY; MALE; NIGHT BLINDNESS; PRIORITY JOURNAL; PROGNOSIS; RETINA MACULA DEGENERATION; RETINA MACULA EDEMA; RETINITIS PIGMENTOSA; SYMPTOMATOLOGY; SYNDROME DELINEATION; USHER SYNDROME; VESTIBULAR TEST; VISUAL ACUITY; VISUAL FIELD;

ADOLESCENT; ADULT; CHILD; DIAGNOSIS, DIFFERENTIAL; ELECTRORETINOGRAPHY; HEARING LOSS, SENSORINEURAL; HUMANS; MIDDLE AGED; NIGHT BLINDNESS; RETINITIS PIGMENTOSA; SPEECH DISORDERS; SYNDROME; VESTIBULAR DISEASES; VISUAL ACUITY; VISUAL FIELDS;

EID: 0036117719     PISSN: 13953907     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1600-0420.2002.800215.x     Document Type: Article

References (41)

1. Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F
2. Narrow-band filtering for monitoring low-amplitude cone electroretinograms in retinitis pigmentosa
3. Evaluation of the myosin VIIA gene and visual function in patients with Usher syndrome type I
4. Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D
5. A newly identified locus for Usher syndrome type I, USH1E, maps to chromosome 21q21
6. The heterogeneity of Usher syndrome
7. Visual acuity and visual field impairment in Usher syndrome
8. Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa
9. Usher's syndrome: Visual loss and variations in clinical expressivity
10. Prevalence of foveal lesions in type 1 and type 2 Usher's syndrome
11. Prevalence of posterior subcapsular lens opacities in patients with retinitis pigmentosa
12. Usher's syndrome. Ophthalmic and neuro-otologic findings suggesting genetic heterogeneity
13. Usher syndrome in four Norwegian counties
14. A novel locus for Usher syndrome type II, USH2B, maps to chromosome 3 at p23-24
15. Usher syndrome in the city of Birmingham-prevalence and clinical classification
16. Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3
17. A gene for Usher syndrome type I (USH1A) maps to chromosome 14q
18. Retinitis pigmentosa and hearing loss
19. Usher Syndrome: Clinical findings and gene localization studies
20. Linkage of Usher syndrome type I gene (USHIB) to the long aim of chromosonm II
21. Localization of Usher syndrome type II to chromosome 1q
22. Vestibular and auditory function in Usher's syndrome
23. Haplotype analysis of the USH1D locus and genotype-phenotype correlations
24. Standard for clinical electroretinography (1999 update). International Society for Clinical Electrophysiology of Vision
25. Is there genetic heterogeneity in Usher's syndrome?
26. Clinical variations in Usher's syndrome
27. Usher's and Hallgren's syndromes
28. Usher syndrome
29. Dystrophia retinae pigmentosa-Dysacusis syndrome (DRD): A study of the Usher- or Hallgren syndrome
30. Visual acuity loss in patients with Usher's syndrome
31. Genetic heterogeneity of Usher syndrome type II: Localisation to chromosome 5q
32. Missense mutation in the USH2A gene: Association with recessive retinitis pigmentosa without hearing loss
33. Assignment of an Usher syndrome type III (USH3) gene to chromosome 3q
34. Comparative study of visual, auditory, and olfactory function in Usher syndrome
35. Clinical diagnosis of the Usher syndromes
36. Localization of two genes for Usher syndrome type I to chromosome 11
37. A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C
38. Localization of the Usher syndrome type ID gene (Ush1D) to chromosome 10
39. Localization of the Usher syndrome type IF (Ush1F) to chromosome 10
40. Defective myosin VIIA gene responsible for Usher syndrome type 1B
41. Computerized quantitative analysis of kinetic visual fields