Usher Syndrome - Medical Bibliography

by DB-LINK on May 1, 2011
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This is a partial list of materials on this topic available from the DB-LINK Catalog Database.  If you have additional questions, please contact us via email:

Updated 5/2011


Audiologic Performance and Benefit of Cochlear Implantation in Usher syndrome type I --Pennings, Ronald J. E.; Damen, Godelieve W. J. A.; Snik, Ad F. M.; Hoefsloot, Lies; Cremers, Cor W. R. J.; Mylanus, Emmanuel A. M. LARYNGOSCOPE, vol. 116, May 2006, pp. 717-722. (2006)This retrospective study from the Netherlands evaluated the benefit and performance of cochlear implantation in 14 patients with Usher syndrome type I. A questionnaire was used to measure benefit and equivalent hearing level scores were used to measure performance. Similar to previous studies, it was demonstrated that implantation at an earlier age results in better performance than implantation at an older age. Implantation performed with in the first two decades of life was beneficial to 13 of the 14 patients. Additionally, the benefit of implantation was found to increase as equivalent hearing level scores decreased.


Audiological and Vestibular Features in Affected Subjects with USH3: A Genotype/Phenotype Correlation --Sadeghi, Mehdi; Cohn, Edward S.; Kimberling, William J.; Tranebjaerg, Lisbeth; Moller,Claes. INTERNATIONAL JOURNAL OF AUDIOLOGY, vol. 44, pp. 307-316. (2005)The aims of this study were to compare the genotype/phenotype relationship between USH3 mutations and associated hearing and vestibular consequences and to compare hearing loss progression between Usher syndrome types IB, IIA, and USH3. Genetic, audiometric, and vestibular examinations were performed in 28 subjects with USH3. Severe hearing loss was present from an early age in 35%. Progression of hearing loss begins in the first decade of life and approximately 50% of affected individuals become profoundly deaf by age 40. Various vestibular abnormalities were found in about half of those tested. Depending on the severity of hearing loss, people with USH3 might be misdiagnosed as either Usher type IB or IIA.


Audiological findings in Usher syndrome types IIa and II (non-IIa) --Sadeghi, Mehdi; Cohn, Edward; Kelly, Willian; Kimberling, William; Tranebjoerg, Lisbeth; Moller, Claes. International Journal of Audiology, 2004; 43:136-143. (2004)People with Usher syndrome type II show moderate-to-severe hearing loss, normal balance and retinitis pigmentosa. Several genes cause Usher syndrome type II. Subjects formed two genetic groups: (1) subjects with Usher syndrome type IIa with a mutation and/or linkage to the Usher IIa gene; (2) subjects with the Usher II phenotype with no mutation and/or linkage to the Usher IIa gene. Four hundred and two audiograms of 80 Usher IIa subjects were compared with 435 audiograms of 87 non-IIa subjects. Serial audiograms with intervals of =5 years were examined for progression in 109 individuals. Those with Usher syndrome type IIa had significantly worse hearing thresholds than those with non-IIa Usher syndrome after the second decade. The hearing loss in Usher syndrome type IIa was found to be more progressive, and the progression started earlier than in non-IIa Usher syndrome. This suggests an auditory phenotype for Usher syndrome type IIa that is different from that of other types of Usher syndrome II. Thought to be one of the first studies showing a genotype-phenotype auditory correlation.


Deafblindness in French Canadians from Quebec: a predominant founder mutation in the USH1C gene provides the first genetic link with the Acadian population Genome Biology [Genome Biol] 2007; Vol. 8 (4), pp. R47. (2007) BACKGROUND: Usher syndrome type 1 (USH1) is the leading cause of deafblindness. In most populations, many private mutations are distributed across the five known USH1 genes. We investigated patients from the French Canadian population of Quebec (approximately 6 million people) that descends from about 8,500 French settlers who colonized the St Lawrence River valley between 1608 and 1759. We hypothesized that founder mutations in USH1 genes exist in this population. RESULTS: We have genetically characterized 15 patients from different regions of Quebec who were clinically diagnosed as USH1. Of these cases, 60% carried mutations of the USH1C gene, a genetic subtype that is rare outside the Acadian population. We have discovered a founder effect of the c.216G>A mutation, which has previously been designated the 'Acadian allele' because it accounts for virtually all Acadian USH1 cases. It represents 40% of disease alleles in Quebec, and a carrier of c.216G>A was identified in the general population. Mutations in other genes, except CDH23, are very rare. CONCLUSION: Based on our findings, approximately 0.5% of congenitally deaf children in Quebec are at risk of developing retinal degeneration due to homozygosity for c.216G>A. Although the Acadians and French Canadians from Quebec are descended from French ancestors, they have always been considered genetically distinct. The genetic conditions common in Quebec are generally not found in Acadians, or they are due to different mutations. Our results, however, show that carriers of the c.216G>A allele haplotype belonged to the early founders of both the Acadian and the Quebec population. Available on the web:


Evaluation of visual impairment in Usher Syndrome 1b and Usher Syndrome 2a --Pennings, R.; Huygen, P.; Orten, D.; Wagenaar, M.; van Aarem, A.; Kremer, H.; Kimberling, W.; Cremers, C.; Deutman, A. Acta Ophthalmologica Scandinavica, 2004: 82, 131-139. (2002)This study looked at 19 USH1b patients and 40 USH2a patients to determine the degree of visual impairment in each group. Parts of the available individual longitudinal data were used to obtain individual estimates of progressive deterioration and comparre these to those obtained with cross-sectional analysis. The functional acuity score (FAS), functional field score (FFS), and functional vision score (FVS), deterorated significantly by 0.7-1.5% in both groups. Higher deterioration rates in any of these scores were attained, according to longitudinal data collected from individual USH2a patients. Significant deterioration of the FAS, FFS, and FVS with advancing age in both patient groups was revealed with no significant difference between the types. Prevalence of Usher syndrome worldwide is estimated to range from 3.5 to 6.2 in 100,000 persons.

2010-0243 Frequency of Usher Syndrome in Two Pediatric Populations: Implications for Genetic Screening of Deaf and Hard of Hearing Children --Kimberling, William J.; Hildebrand, Michael S.; Shearer, A. Eliot; Jensen, Maren L.; Halder, Jennifer A.; Trzupek, Karmen; Cohn, Edward S.; Weleber, Richard G.; Stone, Edwin M.; Smith, Richard, J. H. GENETICS IN MEDICINE, vol. 12, #8, August 2010, pp. 512-516. (2010)Newly developed molecular technologies can detect the underlying gene mutation of Usher syndrome early in life providing an estimation of its prevalence in at risk pediatric populations and laying a foundation for its incorporation as an adjunct to newborn hearing screening programs. In this study, a total of 133 children from two deaf and hard of hearing pediatric populations were genotyped first for GJB2/6 and, if negative, then for Usher syndrome. Children were scored as positive if the test revealed 1 or more pathogenic mutations in any Usher gene. The number of deaf and hard of hearing children carrying Usher syndrome mutations was 15/133 (11.3%). The population prevalence was estimated to be 1/6000. The authors conclude that Usher syndrome is more prevalent than has been reported before the genome project era and that the results demonstrate that DNA testing for Usher syndrome is feasible and may be a useful addition to newborn hearing screening programs.


Further Evaluation of Docosahexaenoic Acid in Patients with Retinitis Pigmentosa Receiving Vitamin A Treatment --Berson, Eliot, MD; Rosner, Bernard, PhD; Sandberg, Michael, PhD. American Medical Association. Archives of Opthamology, Vol 122, September 2004, p.1306-1314. (2004)To determine whether docosahexaenoic acid (DHA) slows the course of retinal degeneration in patients with retinitis pigmentosa who are receiving vitamin A, 208 patients were randomly assigned DHA + Vitamin A or fatty acid + Vitamin A (control + A). Among patients not take A prior to the study, those in the DHA + A group had a slower decline in field sensitivity and electroretinogram amplitude than those in control +A over the first two years. These results were not observed in years 3 and 4 of the follow up or among patients taking vitamin A prior to entry into the study.


Gene Therapy for Usher 1B FOUNDATION FIGHTING BLINDNESS. (2004) This article provides an update on the development of a gene therapy treatment for Usher Type 1B. Describes the research that Dr. David S. Williams, and Xian-Jie Yang are doing with the funding of the Foundation Fighting Blindness. Publisher's web site:


Genetic Heterogeneity in Usher Syndrome --Keats, Bronya J.B.; Savas, Sevtap. American Journal of Medical Genetics, Vol 130A, 2004, pp.13-16. (2004)Mutations in seven different genes have been associated with Usher syndrome, and an additional four loci have been mapped. Ongoing studies are enabling early diagnosis of Usher syndrome in children who present with hearing loss, thus providing time to prepare for the onset of visual loss. This article provides an overview of the genetic heterogeneity of Usher syndrome.


Genetics in RP and Retinal Degenerative Diseases: Discoveries, Breakthroughs, and Challenges --Shaberman, Ben. Maryland: Foundation Fighting Blindness. (2005) Discusses the current breakthroughs and therapies in genetic work related to retinal degenerative diseases including genetic breakthroughs in Usher syndrome and Stargardt Disease. Publisher’s website:


Long-Term Ophthalmic Health Care in Usher Syndrome Type I from an ICF Perspective --Moller, Kerstin; Eriksson, Kristina; Sadeghi, Andre M.; Moller, Claes; Danermark, Berth. DISABILITY AND REHABILITATION, vol. 31, #15, pp. 1283-1292. (2009) The aim of this retrospective study was to explore ophthalmic health care in female patients with Usher Syndrome Type I over a 20-year period and to evaluate the relationship between ophthalmic health care and the health state of the patients. Methods: The study involved an evaluation of the records of nine patients (aged 25-39 years) from ophthalmology departments and low vision clinics from 1985 to 2004, based on the International Classification of Functioning, Disability, and Health (ICF). Findings were analyzed by the following four themes: health care system, procedure examinations, patient's functioning and disability, and procedure actions. Results: Procedure examinations were exclusively oriented towards body structure and function. All patients showed aggravated visual impairment over and above hearing and vestibular impairment. Procedure actions were oriented towards environmental factors. No correlation was found between procedures performed and the patients' experiences of disability. Conclusions: The high degree of resource allocation was not correlated to the patients' impairments. The study indicates that the ophthalmic health care was characterized by inefficiency. This conclusion is very serious because patients very likely face severe disability and emotional difficulties.


Longterm Visual Prognosis in Usher Syndrome Types 1 and 2 --Sadeghi, Andre M.; Eriksson, Kristina; Kimberling, William J.; Sjostrom, Anders; Moller, Claes. ACTA OPHTHALMOLOGICA SCANDINAVICA, vol. 84, #4, pp. 537-544. (2006)This was a retrospective study of 329 individuals in Sweden and the United States with Usher syndrome types 1 and 2. Study subjects ranged in age from 4 to 87 years and were divided into seven different groups by decade. The study found that progressive visual acuity and visual field loss begins to be substantial between the second and third decades of life in both types of Usher syndrome, with the rate of degeneration varying between individuals. Retinitis pigmentosa was diagnosed significantly earlier in those with Usher syndrome type 1 than in those with type 2. Visual acuity was significantly more impaired in those with type 1 than in those with type 2 from 50 years of age onwards. Cataract was also found to be more common in Usher syndrome type 1 than type 2.


Minimized Rotational Vestibular Testing as a Screening Procedure Detecting Vestibular Areflexy in Deaf Children: Screening Cochlear Implant Candidates for Usher Syndrome Type I --Teschner, Magnus; Neuburger, Juergen; Gockeln, Roland; Lenarz, Thomas; Lesinksi-Schiedat, Anke. EUROPEAN ARCHIVES OF OTORHINOLARYNGOLY, vol. 265, #7, July 2008, pp.759-763. (2008)Reports the results of a study of a procedure called "Minimized Rotation" for screening congenitally deaf children for vestibular deficiency and subsequently Usher I. A total of 117 children were examined by Minimized Rotation during their preoperative cochlear implant candidacy examination. A lack of postrotational nystagmus was seen as an indication for vestibular deficit. In 19 children (16.2%), no rotational nystagmus was found. Six of these children were subsequently examined using Ganzfeld electroretinography (ERG). Three (50%) showed generalized dysfunction of the retina; 8.1% of the children undergoing preoperative evaluation for cochlear implatation are assumed to show abnormalities of the retina. Rotational examination seems to be an appropriate screening method to detect vestibular deficits, which is one sign of USH I. The results always have to be verified by Ganzfeld-ERG or further genetic investigations.


Mutation of PCDH15 Among Ashkenazi Jews with the Type 1 Usher Syndrome --Ben-Yosef, Tamar, Ph.D.; Ness, Seth L., M.D., Ph.D. ; Madeo, Anne C., M.S.; Bar-Lev, Adi, M.S.; Wolfman, Jessica H.,; Ahmed, Zubair M. Ph.D.; Desnick, Robert J., M.D., Ph.D. ; Willner, Judith P., M.D.; Avraham, Karen B., Ph.D.; Ostrer, Harry, M.D.; Oddoux, Carole, Ph.D.; Griffith, Andrew J., M.D., Ph.D.; Friedman, Thomas B., Ph.D. NEW ENGLAND JOURNAL OF MEDICINE, vol. 348, #17, April 24, 2003, pp. 1664-1670. (2003)This article describes a study of mutation among Ashkenazi Jews with Type I Usher syndrome. It includes a brief description of Type I Usher syndrome, describes the subjects of the study, mutation detection, results and a discussion of the results. Includes several diagrams and tables to show results.


Natural course of visual field loss in patients with Type 2 Usher syndrome --Fishman GA; Bozbeyoglu S; Massof RW; Kimberling W. Retina, 2007 Jun; Vol. 27 (5), pp. 601-8. (2007) PURPOSE: To evaluate the natural course of visual field loss in patients with Type 2 Usher syndrome and different patterns of visual field loss. METHODS: Fifty-eight patients with Type 2 Usher syndrome who had at least three visual field measurements during a period of at least 3 years were studied. Kinetic visual fields measured on a standard calibrated Goldmann perimeter with II4e and V4e targets were analyzed. The visual field areas in both eyes were determined by planimetry with the use of a digitalizing tablet and computer software and expressed in square inches. The data for each visual field area measurement were transformed to a natural log unit. Using a mixed model regression analysis, values for the half-life of field loss (time during which half of the remaining field area is lost) were estimated. Three different patterns of visual field loss were identified, and the half-life time for each pattern of loss was calculated. RESULTS: Of the 58 patients, 11 were classified as having pattern type I, 12 with pattern type II, and 14 with pattern type III. Of 21 patients whose visual field loss was so advanced that they could not be classified, 15 showed only a small residual central field (Group A) and 6 showed a residual central field with a peripheral island (Group B). The average half-life times varied between 3.85 and 7.37 for the II4e test target and 4.59 to 6.42 for the V4e target. There was no statistically significant difference in the half-life times between the various patterns of field loss or for the test targets. CONCLUSION: The average half-life times for visual field loss in patients with Usher syndrome Type 2 were statistically similar among those patients with different patterns of visual field loss. These findings will be useful for counseling patients with Type 2 Usher syndrome as to their prognosis for anticipated visual field loss. Publisher's web site:


Prevalence and Geographical Distribution of Usher Syndrome in Germany --Spandau, Ulrich H. M.; Rohrschneider, Klaus. GRAEF'S ARCHIVE FOR CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY, vol. 240 #6, June 2002, pp. 495-8. (2002)The purpose of this study was to estimate the prevalence of Usher syndrome in Heidelberg and Mannheim and to map its geographical distribution in Germany. Patients were ascertained through the databases of the Low vision Department at the University of Heidelberg, and of the patient support group Pro Retina. Ophththalmic and audiologic exams and medical records were used to classify patients into one of the subtypes. Knowledge of the high prevalence of Usher syndrome, with up to 5,000 patients in Germany , should lead to increased awareness and timely diagnosis by ophthalmologists and otologists.


Prevalence of Usher Syndrome in Sweden: A Nationwide Epidemiological and Clinical Survey --Moller, Claes; Sadeghi, A.M.; Kimberling, W.J..; Tranebjrg, L. 14th DbI World Conference on Deafblindness Conference Proceedings, September 25-30, 2007, Perth, Australia. (2007)This is a brief one page outline of a workshop presentation given at the 14th DbI World Conference on Deaf-Blindness. It describes the purpose of the study to estimate the prevalence of Usher syndrome and to determine the geographical distribution of different Usher types in Sweden.


Protein Tied to Usher Syndrome May Be Hearing's 'Missing Link' --National Institute on Deafness and Other Communication Disorders. NIDCD. (2006) A protein associated with a disorder that causes deafness and blindness may be a key to unraveling one of the foremost mysteries of how we hear. Scientists with the National Institute on Deafness and Other Communication Disorders (NIDCD), one of the National Institutes of Health (NIH), and the University of Sussex, Brighton, United Kingdom, have identified protocadherin-15 as a likely player in the reaction in which sound is converted into electrical signals. (Protocadherin-15 is a protein made by a gene that causes one form of type 1 Usher syndrome, the most common cause of deaf-blindness in humans.) The findings will not only provide insight into how hearing takes place at the molecular level, but also may help figure out why some people temporarily lose their hearing after being exposed to loud noise, only to regain it a day or two later.


Quality of life and Cochlear Implantation in Usher Syndrome Type I --Damen, Godelieve W. J. A.; Pennings, Ronald J. E.; Snik, Ad F. M.; Mylanus, Emmanuel A. M. LARYNGOSCOPE, vol. 116, May 2006, pp. 723-728. (2006)This study from the Netherlands evaluated quality of life (QoL), hearing, and vision in patients with Usher syndrome type 1, with and without cochlear implants. QoL of 14 patients (7 adults, 7 children) who had cochlear implants was compared with QoL of 14 patients (12 adults, 2 children) who did not have cochlear implants using three questionnaires and the Usher Lifestyle Survey. A significant benefit of CI was seen in the hearing-specific questionnaire. The Usher Lifestyle Survey indicated that patients with the CI tended to be able to live an independent life more easily than the profoundly deaf unimplanted patients. Overall, the authors concluded that QoL can be enhanced by CI in patients with Usher 1, although effects are mostly seen in hearing-related QoL items.


The Relationship Between Usher's Syndrome and Psychosis with Capgras Syndrome --Waldeck, Tracy; Wyszynski, Bernard; Medalia, Alice. PSYCHIATRY, vol. 64, #3, Fall 2001, pp.248-55. (2001)This article reports a case of psychotic symptoms in a woman with Usher Syndrome Type III and serves to increase awareness of its possible link to psychotic symptoms. There is some evidence in the literature of concurrent psychiatric symptoms, particularly psychotic symptoms, associated with Usher syndrome and several theories for an association have been proposed including a genetic link between the genes responsible for schizophrenia and the genes for Usher syndrome, a neuropathological explanation (radiopathologic studies have revealed that patients with Usher syndrome have CNS abnormalities in multiple brain structures), and a sensory deficit model which proposes that the stressors associated with sensory impairment and the brain's adaptation to changes in sensory inputs place an individual at increased risk for psychopathology. The patient's symptoms included paranoia, aggressive and self injurious behaviors, and Capgras syndrome which is characterized by the delusional belief that some important person or family member has been replaced by an imposter.


Searching for a key to Usher --Anderson, Colin. Sense: Talking Sense, Autumn/Winter, 2004, pp. 15-17. (2004)Reports on the National Collaborative Usher Study in the UK. The three year includes families, doctors and scientists, working in collaboration with Sense to identify and study the variations in conditions within individuals in the Usher population. The study will look at the identified genes and attempt to determine if some genes cause the condition to become more or less severe.


Sensory Impairments, Intellectual Disability and Psychiatry --Carvill, S. JOURNAL OF INTELLECTUAL DISABILITY RESEARCH, vol. 45, #6, December 2001, pp. 467-483. (2001)Reviews: (1) prevalence studies of sensory impairments (deafness, visual impairment, and deaf-blindness) in people with intellectual disabilities; (2) studies looking at psychological and psychiatric disorders in people with sensory impairments; and (3) studies that have examined the association of sensory impairments with autism. According to the review, research has shown that sensory impairments are more common in people with intellectual disabilities. Includes a review of the very limited available data in these areas related to deaf-blindness including a discussion of psychiatric disorders in people who have Usher syndrome and the possibility of an association between congenital rubella syndrome and autism.


Some Early Outcomes from the National Collaborative Usher Study in the UK 2003-2007 --Guest, Mary; Cook, Liz. 14th DbI World Conference on Deafblindness Conference Proceedings, September 25-30, 2007, Perth, Australia. (2007)This is text of a workshop presentation given at the 14th DbI World Conference on Deaf-Blindness. This presentation describes the aims of the National Collaborative Usher Study, how families were recruited and what they wanted to know. It gives a brief description of the clinical investigations into balance, hearing and vision some preliminary findings together with some findings from the results of the molecular genetic analysis carried out on 185 families.


Update on the Genetics of Usher Syndrome --Millán, José M.; Aller, Elena; Jaijo, Teresa; Blanco-Kelly, Fiona; Gimenez-Pardo, Ascensión; Ayuso, Carmen. JOURNAL OF OPHTHALMOLOGY, vol. 2011, Article ID 417217, 8 pages. (2011)This article reviews the clinical features and genetic findings of the three types of Usher Syndrome. Usher type I (USH1) is the most severe form and is characterized by severe to profound congenital deafness, vestibular areflexia, and prepubertal onset of progressive retinitis pigmentosa (RP). Type II (USH2) displays moderate to severe hearing loss, absence of vestibular dysfunction, and later onset of retinal degeneration. Type III (USH3) shows progressive postlingual hearing loss, variable onset of RP, and variable vestibular response. To date, five USH1 genes have been identified: MYO7A (USH1B), CDH23 (USH1D), PCDH15 (USH1F), USH1C(USH1C), and USH1G(USH1G). Three genes are involved in USH2, namely, USH2A (USH2A), GPR98 (USH2C), and DFNB31 (USH2D). USH3 is rare except in certain populations, and the gene responsible for this type is USH3A.


Update on Usher Syndrome --Saihan, Zubin; Webster, Andrew R.; Luxon, Linda; Bitner-Glindzicz, Maria. CURRENT OPINION IN NEUROLOGY, vol. 22, pp. 19-27. (2009)This technical article reviews recent developments in the understanding of Usher syndrome. It includes a description of the various types of Usher syndrome and its characteristics (hearing loss, retinitis pigmentosa, vestibular dysfunction) as well as a detailed discussion of its mechanisms and genetics. It describes recent molecular findings that have provided more information regarding the pathogenesis of Usher Syndrome and the wide phenotypic variation in both the audiovestibular and/or visual systems. Evidence has begun to emerge supporting a theory of a protein interactome involving the Usher proteins in both the inner ear and the retina.


USH1A: Chronicle of a Slow Death --Gerber, Sylvie, et. al. American Journal of Human Genetics; Feb2006, Vol. 78 Issue 2, p357-359. (2006)A letter to the editor is presented on type 1 Usher syndrome explaining why the belief that there was a "French variety" of Type 1 US was incorrect.


Usher Syndrome and Cochlear Implantation --Loundon, Natalie; Marlin, Sandrine; Buxquet, Denise; Denoyelle, Francoise; Roger, Gilles; Renaud, Francis; Garabedian, Erea Noel. OTOLOGY & NEUROTOLOGY, vol. 24 #2, March 2003, pp. 216-221. (2003)The objective of this study was to evaluate the symptoms leading to diagnosis and the quality of rehabilitation after cochlear implantation in Usher syndrome. The study concluded the earliest clinical sign associated with deafness evoking Usher syndrome is late walking. The electroretinogram is the only reliable examination to enable the diagnosis. When severe profound deafness is associated with late walking, the electroretinogram should be systematically proposed. Logopedic results are linked to precocity of implantation, and early Usher's diagnosis contributes to optimize speech therapy.


Usher Syndrome Clinical Types I and II: Could Ocular Symptoms and Signs Differentiate Between the Two Types? --Tsilou, Ekaterini T.; Rubin, Benjamin I.; Caruso, Rafael, C.; Reed, George F.; Pikus, Anita; Hejtmancik, James F.; Iwata, Fumino; Redman, Joy B.; Kaiser-Kupfer, Muriel I. ACTA OPHTHALMOLOGICA SCANDINAVICA, vol. 80, #2, April 2002, pp. 196-201. (2002)Usher syndrome types I and II are clinical syndromes with substantial genetic and clinical heterogeneity. The current study sought to identify ocular symptoms and signs that could differentiate between the two types. Sixty-seven patients with Usher syndrome were evaluated and classified as either Usher type I or II based on audiologic and vestibular findings. The severity of the ocular signs and symptoms present in each type were compared. The study found that visual acuity, visual field area, electroretinographic amplitude, incidence of cataract, and macular lesions were not significantly different between Usher types I and II. However, the ages when night blindness was perceived and retinitis pigmentosa was diagnosed differed significantly between the two types. Night blindness appears earlier in Usher type I (although the difference in age of appearance appears to be less dramatic than previously assumed).


Usher Syndrome With Psychotic Symptoms: Two Cases in the Same Family --Wu, Chen-Ying, MD; Chiu, Chih-Chiang, MD. PSYCHIATRY AND CLINICAL NEUROSCIENCES, 2006, 60, pp. 626–628. (2006)Usher syndrome is a heterogeneous autosomal recessive disorder characterized by hearing and visual sensory impairment. Retinitis pigmentosa is essential for its diagnosis. There are only a few reports describing patients with Usher syndrome presenting with psychotic features and the etiology of its psychiatric manifestation is still unknown. Herein, the authors report variable congenital hearing impairment and progressive visual loss occurring in five of seven family members and two of them meeting the diagnostic criteria of Usher syndrome with psychotic features. Furthermore, the authors compare their psychiatric symptoms with other reports and the possible etiologies of psychotic symptoms are discussed.


Usher Type I Syndrome in Children: Genotype/Phenotype Correlation and Cochlear Implant Benefits --Blanchet, C.; Roux, A. F.; Hamel, C.; Ben Salah, S.; Artieres, F.; Faugere, V.; Uziel, A.; Mondain, M. REV LARYNGOL OTOL RHINOL, 2007; 128,3: pp.137-143. (2007)[Article is in French] Objective: To assess the benefit of cochlear implant in children presenting an Usher type 1 syndrome (speech understanding, speech production intelligibility, academic performance) and to search any correlation between the phenotype and the genotype in this population. Materials and methods: Retrospective case series analysis about 13 implanted Usher type I children. Cochlear implantation was performed from 1995 to 2005. The population was divided in three groups: group 1 (implantation between 1 and 3 years of age); group 2 (implantation between 4 and 7 years of age), and group 3 (implantation between 14 and 17 years of age). Postoperative speech perception, speech production intelligibility, and education settings were evaluated. Results: Molecular genetic analysis was performed in 11 patients and pathogenic mutations were identified in all cases: (mutation in myosin 7A gene in 5 cases; mutation in cadherin 23 gene in 6 cases). Four new mutations 2 in the MYO7A gene and 2 in the CDH23 gene never reported before were found. Walking delay and hearing level were not statistically correlated with the genotype abnormalities found. The speech discrimination skills, the speech production intelligibility and the academic performance were better in the group 1 children than the group 2 children after cochlear implantation. All the children of group 1 but one were in mainstreaming education. Specific language impairment was identified in two children of group 1. The group 3 children could not achieve open-set perceptive tasks after implantation - only closed-set word test can be done and their speech production remained unintelligible after cochlear implantation. Conclusion: Molecular analysis of Usher type I syndrome can ascertain the diagnosis in spite of the genetic heterogeneity. In this study, clinical symptoms weren’t correlated with genotypic mutations. Speech discrimination skills, speech production quality, and academic performance were correlated with the age at implant.


Visual Impairment in Finnish Usher Syndrome Type III --Plantinga, Rutger F., Acta Ophthalmologica Scandinavica; Feb2006, Vol. 84 Issue 1, p36-41. (2006) Purpose: To evaluate visual impairment in Finnish Usher syndrome type 3 (USH3) and compare this with visual impairment in Usher syndrome types 1b (USH1b) and 2a (USH2a). Methods: We carried out a retrospective study of 28 Finnish USH3 patients, 24 Dutch USH2a patients and 17 Dutch USH1b patients. Cross-sectional regression analyses of the functional acuity score (FAS), functional field score (FFS*) and functional vision score (FVS*) related to age were performed for all patients. The FFS* and FVS* were calculated using the isoptre V-4 test target instead of the usual III-4 target. Statistical tests relating to regression lines and Student's t-test were used to compare between USH3 patients and the other genetic subtypes of Usher syndrome. Results: Cross-sectional analyses revealed significant deterioration in the FAS (1.3% per year), FFS* (1.4% per year) and FVS* (1.8% per year) with advancing age in the USH3 patient group. At a given age the USH3 patients showed significantly poorer visual field function than the USH2a patients. Conclusions: The rate of deterioration in visual function in Finnish USH3 patients was fairly similar to that in Dutch USH1b or USH2a patients.  

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