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International Ophthalmology

, Volume 19, Issue 5, pp 307–311 | Cite as

The ophthalmological course of Usher syndrome type III

  • Leenamaija Pakarinen
  • Kaija Tuppurainen
  • Pekka Laippala
  • Maija Mäntyjärvi
  • Heikki Puhakka
Articles

Abstract

Usher syndrome is a recessive hereditary disease group with clinical and genetical heterogeneity leading to handicapped hearing and visual loss until middle age. It is the most common cause for deaf-blindness. Three distinct phenotypes and five distinct genotypes are already known. In Finland the distribution of known Usher types is different than elsewhere. Usher syndrome type III (USH3) is common in Finland and it is thought to include 40% of patients. Progressive hearing loss is characteristic of USH3. Elsewhere USH3 has been regarded as a rarity covering only several percent of the whole Usher population. The aim of this paper is to describe, for the first time, the course of visual handicap and typical refractive errors in USH3 and compare it with other USH types. From a total patient sample consisting of 229 Finnish USH patients, 200 patients' visual findings were analyzed in a multicenter retrospective follow-up study. The average progress rate during a 10-year follow-up period in different USH types was similar. The essential progress occurred below the age of 40 and was continuous up to that age. Visual acuity dropped below 0.05 (severely impaired) at the age of 37 and the visual fields were of tubular shape without any peripheric islands at the average age of 30. Clinically significant hypermetropia with astigmatism seems to be a pathognomonic clinical sign of USH3.

Key words

hereditary hearing loss progressive hearing loss progressive pigmentary retinopathy retinitis pigmentosa Usher syndrome Usher syndrome type III 

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Copyright information

© Kluwer Academic Publishers 1996

Authors and Affiliations

  • Leenamaija Pakarinen
    • 1
  • Kaija Tuppurainen
    • 2
  • Pekka Laippala
    • 3
  • Maija Mäntyjärvi
    • 4
  • Heikki Puhakka
    • 5
  1. 1.Department of PhoniatricsTampere University HospitalTampereFinland
  2. 2.Department of OphthalmologyKuopio University HospitalKuopioFinland
  3. 3.Tampere School of Public Health/Biometric Unit of Tampere UniversityTampereFinland
  4. 4.Department of OphthalmologyKuopio University HospitalKuopioFinland
  5. 5.Department of ENTTampere University HospitalTampereFinland

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