Dark-adapted threshold and electroretinogram for diagnosis of Usher syndrome.
Dark-adapted visual threshold
Full-field electroretinogram
Sensorineural hearing loss
Usher syndrome
Journal
Documenta ophthalmologica. Advances in ophthalmology
ISSN: 1573-2622
Titre abrégé: Doc Ophthalmol
Pays: Netherlands
ID NLM: 0370667
Informations de publication
Date de publication:
08 2021
08 2021
Historique:
received:
12
09
2020
accepted:
07
01
2021
pubmed:
30
1
2021
medline:
21
10
2021
entrez:
29
1
2021
Statut:
ppublish
Résumé
To determine the utility of ophthalmology evaluation, dark-adapted threshold, and full-field electroretinogram for early detection of Usher syndrome in young patients with bilateral sensorineural hearing loss. We identified 39 patients with secure genetic diagnoses of Usher Syndrome. Visual acuity, spherical equivalent, fundus appearance, dark-adapted threshold, and full-field electroretinogram results were summarized and compared to those in a group of healthy controls with normal hearing. In those Usher patients with repeated measures, regression analysis was done to evaluate for change in visual acuity and dark-adapted threshold with age. Spherical equivalent and full-field electroretinogram responses from dark- and light-adapted eyes were evaluated as a function of age. The majority of initial visual acuity and spherical equivalent results were within normal limits for age. Visual acuity and dark-adapted threshold worsened significantly with age in Usher type 1 but not in Usher type 2. At initial test, full-field electroretinogram responses from dark- and light-adapted eyes were abnormal in 53% of patients. Remarkably, nearly half of our patients (17% of Usher type 1 and 30% of Usher type 2) would have been missed by tests of retinal function alone if evaluated before age 10. Although there is an association of abnormal dark-adapted threshold and full-field electroretinogram at young ages in Usher patients, it appears that a small but important proportion of patients would not be detected by tests of retinal function alone. Thus, genetic testing is needed to secure a diagnosis of Usher syndrome.
Identifiants
pubmed: 33511521
doi: 10.1007/s10633-021-09818-y
pii: 10.1007/s10633-021-09818-y
doi:
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
39-51Références
Boughman JA, Vernon M, Shaver KA (1983) Usher syndrome: definition and estimate of prevalence from two high-risk populations. J Chronic Dis 36(8):595–603
doi: 10.1016/0021-9681(83)90147-9
Spandau UH, Rohrschneider K (2002) Prevalence and geographical distribution of Usher syndrome in Germany. Graefe’s Arch Clin Exp Ophthalmol 240(6):495–498. https://doi.org/10.1007/s00417-002-0485-8
doi: 10.1007/s00417-002-0485-8
Sadeghi M, Kimberling WJ, Tranebjoerg L, Möller C (2004) The prevalence of Usher syndrome in Sweden: a nationwide epidemiological and clinical survey. Audiol Med 2(4):220–228
doi: 10.1080/16513860410003093
Hope CI, Bundey S, Proops D, Fielder AR (1997) Usher syndrome in the city of Birmingham–prevalence and clinical classification. Br J Ophthalmol 81(1):46–53
doi: 10.1136/bjo.81.1.46
Van Camp G. SR Hereditary Hearing Loss Homepage. https://hereditaryhearingloss.org
Millan JM, Aller E, Jaijo T, Blanco-Kelly F, Gimenez-Pardo A, Ayuso C (2011) An update on the genetics of usher syndrome. J Ophthalmol 2011:417217. https://doi.org/10.1155/2011/417217
doi: 10.1155/2011/417217
pubmed: 21234346
Cohen M, Bitner-Glindzicz M, Luxon L (2007) The changing face of Usher syndrome: clinical implications. Int J Audiol 46(2):82–93. https://doi.org/10.1080/14992020600975279
doi: 10.1080/14992020600975279
pubmed: 17365059
Young NM, Mets MB, Hain TC (1996) Early diagnosis of Usher syndrome in infants and children. Am J Otol 17(1):30–34
pubmed: 8694131
Smith RJ, Berlin CI, Hejtmancik JF, Keats BJ, Kimberling WJ, Lewis RA, Moller CG, Pelias MZ, Tranebjaerg L (1994) Clinical diagnosis of the Usher syndromes. Usher Syndrome Consortium. Am J Med Genet 50(1):32–38. doi: https://doi.org/10.1002/ajmg.1320500107
Saihan Z, Webster AR, Luxon L, Bitner-Glindzicz M (2009) Update on Usher syndrome. Curr Opin Neurol 22(1):19–27
doi: 10.1097/WCO.0b013e3283218807
Sadeghi M, Cohn ES, Kelly WJ, Kimberling WJ, Tranebjoerg L, Moller C (2004) Audiological findings in Usher syndrome types IIa and II (non-IIa). Int J Audiol 43(3):136–143
doi: 10.1080/14992020400050019
Yan D, Liu XZ (2010) Genetics and pathological mechanisms of Usher syndrome. J Hum Genet 55(6):327–335. https://doi.org/10.1038/jhg.2010.29
doi: 10.1038/jhg.2010.29
pubmed: 20379205
pmcid: 4511090
Pieke Dahl S, Kimberling WJ, Gorin MB, Weston MD, Furman JM, Pikus A, Moller C (1993) Genetic heterogeneity of Usher syndrome type II. J Med Genet 30(10):843–848
doi: 10.1136/jmg.30.10.843
Loundon N, Marlin S, Busquet D, Denoyelle F, Roger G, Renaud F, Garabedian EN (2003) Usher syndrome and cochlear implantation. Otol Neurotol 24(2):216–221
doi: 10.1097/00129492-200303000-00015
Kimberling WJ, Hildebrand MS, Shearer AE, Jensen ML, Halder JA, Trzupek K, Cohn ES, Weleber RG, Stone EM, Smith RJH (2010) Frequency of Usher syndrome in two pediatric populations: implications for genetic screening of deaf and hard of hearing children. Genet Med 12(8):512–516. https://doi.org/10.1097/GIM.0b013e3181e5afb8
doi: 10.1097/GIM.0b013e3181e5afb8
pubmed: 20613545
pmcid: 3131500
Yoshimura H, Miyagawa M, Kumakawa K, Nishio S-Y, Usami S-I (2016) Frequency of Usher syndrome type 1 in deaf children by massively parallel DNA sequencing. J Hum Genet 61(5):419–422. https://doi.org/10.1038/jhg.2015.168
doi: 10.1038/jhg.2015.168
pubmed: 26791358
pmcid: 4893503
Brodie KD, Moore AT, Slavotinek AM, Meyer AK, Nadaraja GS, Conrad DE, Weinstein JE, Chan DK (2020) Genetic testing leading to early identification of childhood ocular manifestations of usher syndrome. Laryngoscope. https://doi.org/10.1002/lary.29193
doi: 10.1002/lary.29193
pubmed: 33111992
de Haas EB, van Lith GH, Rijnders J, Rumke AM, Volmer C (1970) Usher’s syndrome, with special reference to heterozygous manifestations. Doc Ophthalmol 28(1):166–190
doi: 10.1007/BF00153876
West SK, Hindocha M, Hogg CR, Holder GE, Moore AT, Reddy MA (2015) Electroretinogram assessment of children with sensorineural hearing loss: implications for screening. J AAPOS 19(5):450–454. https://doi.org/10.1016/j.jaapos.2015.08.001
doi: 10.1016/j.jaapos.2015.08.001
pubmed: 26486028
Flores-Guevara R, Renault F, Loundon N, Marlin S, Pelosse B, Momtchilova M, Auzoux-Cheve M, Vermersch AI, Richard P (2009) Usher syndrome type 1: early detection of electroretinographic changes. Eur J Paediatr Neurol 13(6):505–507. https://doi.org/10.1016/j.ejpn.2008.10.002
doi: 10.1016/j.ejpn.2008.10.002
pubmed: 19006676
Roman AJ, Schwartz SB, Aleman TS, Cideciyan AV, Chico JD, Windsor EA, Gardner LM, Ying GS, Smilko EE, Maguire MG, Jacobson SG (2005) Quantifying rod photoreceptor-mediated vision in retinal degenerations: dark-adapted thresholds as outcome measures. Exp Eye Res 80(2):259–272. https://doi.org/10.1016/j.exer.2004.09.008
doi: 10.1016/j.exer.2004.09.008
pubmed: 15670804
Hansen RM, Eklund SE, Benador IY, Mocko JA, Akula JD, Liu Y, Martinez-Perez ME, Fulton AB (2008) Retinal degeneration in children: dark adapted visual threshold and arteriolar diameter. Vision Res 48(3):325–331. https://doi.org/10.1016/j.visres.2007.07.009
doi: 10.1016/j.visres.2007.07.009
pubmed: 17765282
Fulton AB, Hansen RM, Moskowitz A, Akula JD (2009) The neurovascular retina in retinopathy of prematurity. Prog Retinal Eye Res 28(6):452–482. https://doi.org/10.1016/j.preteyeres.2009.06.003
doi: 10.1016/j.preteyeres.2009.06.003
Hansen RM, Moskowitz A, Akula JD, Fulton AB (2017) The neural retina in retinopathy of prematurity. Prog Retinal Eye Res 56:32–57. https://doi.org/10.1016/j.preteyeres.2016.09.004
doi: 10.1016/j.preteyeres.2016.09.004
Stiles DJ, Bentler RA, McGregor KK (2012) The Speech Intelligibility Index and the pure-tone average as predictors of lexical ability in children fit with hearing AIDS. J Speech Lang Hear Res 55(3):764–778. https://doi.org/10.1044/1092-4388(2011/10-0264)
doi: 10.1044/1092-4388(2011/10-0264)
pubmed: 22223888
Stueve MP, O’Rourke C (2003) Estimation of hearing loss in children: comparison of auditory steady-state response, auditory brainstem response, and behavioral test methods. Am J Audiol 12(2):125–136
doi: 10.1044/1059-0889(2003/020)
Moskowitz A, Hansen RM, Eklund SE, Fulton AB (2012) Electroretinographic (ERG) responses in pediatric patients using vigabatrin. Doc Ophthalmol Adv Ophthalmol 124(3):197–209. https://doi.org/10.1007/s10633-012-9320-7
doi: 10.1007/s10633-012-9320-7
Ambrosio L, Hansen RM, Kimia R, Fulton AB (2019) Retinal function in X-linked Juvenile retinoschisis. Invest Ophthalmol Vis Sci 60(14):4872–4881. https://doi.org/10.1167/iovs.19-27897
doi: 10.1167/iovs.19-27897
pubmed: 31747688
McCulloch DL, Marmor MF, Brigell MG, Hamilton R, Holder GE, Tzekov R, Bach M (2015) ISCEV Standard for full-field clinical electroretinography (2015 update). Doc Ophthalmol Adv Ophthalmol 130(1):1–12. https://doi.org/10.1007/s10633-014-9473-7
doi: 10.1007/s10633-014-9473-7
Berson EL, Sandberg MA, Rosner B, Birch DG, Hanson AH (1985) Natural course of retinitis pigmentosa over a three-year interval. Am J Ophthalmol 99(3):240–251. https://doi.org/10.1016/0002-9394(85)90351-4
doi: 10.1016/0002-9394(85)90351-4
pubmed: 3976802
Mayer DL, Beiser AS, Warner AF, Pratt EM, Raye KN, Lang JM (1995) Monocular acuity norms for the teller acuity cards between ages one month and four years. Invest Ophthalmol Vis Sci 36(3):671
pubmed: 7890497
Mayer D, Hansen RM, Moore BD, Kim S, Fulton AB (2001) Cycloplegic refractions in healthy children aged 1 through 48 months. Arch Ophthalmol 119(11):1625–1628. https://doi.org/10.1001/archopht.119.11.1625
doi: 10.1001/archopht.119.11.1625
pubmed: 11709012
Zadnik EK, Manny AR, Yu LJ, Mitchell AG, Cotter CS, Quiralte DJ, Shipp EM, Friedman NN, Kleinstein WR, Walker AT, Jones LL, Moeschberger OM, Mutti OD (2003) Ocular component data in schoolchildren as a function of age and gender. Optom Vis Sci 80(3):226–236. https://doi.org/10.1097/00006324-200303000-00012
doi: 10.1097/00006324-200303000-00012
pubmed: 12637834
Hansen RM, Fulton, A. (2017) Clinical aspects of normal and abnormal visual development and delayed visual maturation. In: Lambert S, Lyons, C. (ed) Pediatric ophthalmology and strabismus. Elsevier, Edinburgh
Reliability of motor development data in the WHO Multicentre Growth Reference Study (2006). Acta Paediatrica 450:47–55
Merens TA (2015) The toddler gait–normal or not. Pediatr Ann 44(5):187–190. https://doi.org/10.3928/00904481-20150512-04
doi: 10.3928/00904481-20150512-04
pubmed: 26023853
Marshall JD, Hinman EG, Collin GB, Beck S, Cerqueira R, Maffei P, Milan G, Zhang W, Wilson DI, Hearn T, Tavares P, Vettor R, Veronese C, Martin M, So WV, Nishina PM, Naggert JK (2007) Spectrum of ALMS1 variants and evaluation of genotype-phenotype correlations in Alstrom syndrome. Hum Mutat 28(11):1114–1123. https://doi.org/10.1002/humu.20577
doi: 10.1002/humu.20577
pubmed: 17594715
Frasquet M, Lupo V, Chumillas MJ, Vazquez-Costa JF, Espinos C, Sevilla T (2018) Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene. J Neurol Sci 387:134–138. https://doi.org/10.1016/j.jns.2018.02.021
doi: 10.1016/j.jns.2018.02.021
pubmed: 29571850
Luscan R, Mechaussier S, Paul A, Tian G, Gérard X, Defoort-Dellhemmes S, Loundon N, Audo I, Bonnin S, LeGargasson J-F, Dumont J, Goudin N, Garfa-Traoré M, Bras M, Pouliet A, Bessières B, Boddaert N, Sahel J-A, Lyonnet S, Kaplan J, Cowan NJ, Rozet J-M, Marlin S, Perrault I (2017) Mutations in TUBB4B cause a distinctive sensorineural disease. Am J Hum Genet 101(6):1006–1012. https://doi.org/10.1016/j.ajhg.2017.10.010
doi: 10.1016/j.ajhg.2017.10.010
pubmed: 29198720
pmcid: 5812887
Nishina S, Kosaki R, Yagihashi T, Azuma N, Okamoto N, Hatsukawa Y, Kurosawa K, Yamane T, Mizuno S, Tsuzuki K, Kosaki K (2012) Ophthalmic features of CHARGE syndrome with CHD7 mutations. Am J Med Genet A 158A(3):514–518. https://doi.org/10.1002/ajmg.a.34400
doi: 10.1002/ajmg.a.34400
pubmed: 22302456