March 2012
Volume 53, Issue 14
ARVO Annual Meeting Abstract  |   March 2012
Phenotype Variation In A Swedish Family With Enhanced S Cone Syndrome
Author Affiliations & Notes
  • Ingemar C. Gustafsson
    Ophthalmology, Skane University Hospital, Lund, Sweden
  • Sten Andreasson
    Ophthalmology, Lund University Hospital, Lund, Sweden
  • Patrik S. Schatz
    Ophthalmology, Lund University Hospital, Lund, Sweden
  • Footnotes
    Commercial Relationships  Ingemar C. Gustafsson, None; Sten Andreasson, None; Patrik S. Schatz, None
  • Footnotes
    Support  Ögonfonden, Dag Lenards fond, Stiftelsen för synskadade i f d Malmöhus län,Stiftelsen Kronprincessan Margaretas arbetsnämnd för synskadade.
Investigative Ophthalmology & Visual Science March 2012, Vol.53, 1214. doi:
  • Views
  • Share
  • Tools
    • Alerts
      This feature is available to authenticated users only.
      Sign In or Create an Account ×
    • Get Citation

      Ingemar C. Gustafsson, Sten Andreasson, Patrik S. Schatz; Phenotype Variation In A Swedish Family With Enhanced S Cone Syndrome. Invest. Ophthalmol. Vis. Sci. 2012;53(14):1214.

      Download citation file:

      © ARVO (1962-2015); The Authors (2016-present)

  • Supplements

Purpose: : To describe the phenotype variation in a Swedish family with enhanced S cone syndrome (ESCS).

Methods: : The male proband, his and five siblings and their mother were investigated with full-field ERG, multifocal ERG (mfERG), optical coherence tomography (OCT) and fundus autofluorescence photography (FAF). Molecular genetic analysis of NR2E3 was performed.

Results: : The male proband age 24 was diagnosed with ESCS ten years ago. The heterozygous mutation p.E121K was identified in NR2E3 in the proband. This mutation has been associated with ECSC previously. The proband harboured atypical nummular deep pigmentation throughout the peripheral fundi. Full-field ERG demonstrated reduced rod, rod-cone and 30 Hz flicker cone responses (<50% of lower range of normal for all), and there was no demonstrable progression during 10 years of follow-up. MfERG demonstrated preserved central function and peripheral reduction. OCT demonstrated epiretinal fibrosis and microcystic changes in the inner retinal layers. Visual fields were normal by Goldmann object V:4, however for object I:4 there was a progression from 70 degrees temporally to 30 degrees during 10 year follow-up.The mother had widespread confluent peripheral atrophic areas reminiscent of gyrate atrophy, and barely measurable rod and cone function by full-field ERG already at presentation at age 40 years. Visual fields by Goldmann object I:4 were reduced to <10 degrees temporally.All siblings had normal visual fields and full-field ERGs.

Conclusions: : The phenotypes varied widely within this family with ESCS. Visual fields were progressively constricted for objects I:4 in affected individuals. In addition, central retinal structural alterations were demonstrated, with relative preservation of function.

Keywords: retinal degenerations: hereditary • photoreceptors • genetics 

This PDF is available to Subscribers Only

Sign in or purchase a subscription to access this content. ×

You must be signed into an individual account to use this feature.