Clinical expressions of juvenile hereditary retinal degenerations and macular dystrophies: Electrophysiological and genetic studies

Research output: ThesisDoctoral Thesis (compilation)


Hereditary retinal degenerations are the most frequent reason for severe visual handicap among young people in Scandinavia today. In the six papers included in this thesis the phenotypic expressions, with emphasis on the electrophysiological findings, of five different juvenile hereditary retinal degenerations are described. The diagnoses have been confirmed by genetic analysis. The retinal disorders presented are all caused by mutations in genes identified during the last six years.

Patients with Best disease and three defined mutations (T357C, T130C and C416A) in the VMD2 gene demonstrated a variable, but moderate visual acuity reduction presenting in childhood, atrophic changes in the macula and pathological results of the EOGs. Patients with the new mutation T370C in VMD2 demonstrated an atypical phenotype with mostly a late onset of visual failure.

Batten disease patients, both homozygous and compound heterozygous for the 1.02 kb deletion in the CLN3 gene, presented a severe, widespread retinal degeneration, which could be confirmed by full-field ERG. However, in the patients heterozygous for this deletion the onset of visual failure and the disease progression in terms of other symptoms was delayed.

30 patients with Juvenile X-linked retinoschisis and seven different mutations in XLRS1 presented a wide variability in the phenotype between, as well as within, families with different genotypes, suggesting that additional factors may contribute to the disease severity. Full-field ERG is an important diagnostic tool in confirming the diagnosis in this disorder.

Two pairs of siblings with Stargardt disease, diagnosis confirmed by genetic linkage to the ABCA4 gene region, presented two different clinical expressions of the disease regarding the distribution of the retinal dysfunction, which could be confirmed by full-field ERGs and MERGs.

Ten patients with Rodmonochromacy and different mutations in the CNGA/CNGB3 genes presented a similar clinical phenotype, confirming the essential function of both the a- and the b-subunit of the cGMP-gated cation channel in cone photoreceptor function.
Original languageEnglish
Awarding Institution
  • Ophthalmology, Lund
  • [unknown], [unknown], Supervisor, External person
Award date2001 Nov 8
Publication statusPublished - 2001

Bibliographical note

Defence details

Date: 2001-11-08
Time: 10:15
Place: Segerfalksalen, Wallenberg Neurocenter, Lund

External reviewer(s)

Name: Skoog, Klas-Olav
Title: Ph D.
Affiliation: Department of Ophthalmology, University Hospital Linköping, S-581 85 Linköping, Sweden


Subject classification (UKÄ)

  • Ophthalmology

Free keywords

  • Oftalmologi
  • Ophtalmology
  • Rod-monochromacy
  • Stargardt disease
  • Juvenile X-linked retinoschisis
  • Spielmeyer-Vogt disease
  • Best disease
  • multifocal-ERG
  • EOG
  • full-field ERG
  • Phenotype
  • genotype


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