June 2021
Volume 62, Issue 8
Open Access
ARVO Annual Meeting Abstract  |   June 2021
Autosomal dominant gyrate atrophy-like choroidal dystrophy revisited: 45 years follow-up and association with a novel missense variant
Author Affiliations & Notes
  • Ulrich Kellner
    AugenZentrum Siegburg, MVZ ADTC Siegburg GmbH, Rare retinal Disease Center, Siegburg, Germany
    RetinaScience, Bonn, Germany
  • Nicole Weisschuh
    Institute for Ophthalmic Research, University of Tübingen, Center for Ophthalmology, Germany
  • Silke Weinitz
    AugenZentrum Siegburg, MVZ ADTC Siegburg GmbH, Rare retinal Disease Center, Siegburg, Germany
    RetinaScience, Bonn, Germany
  • Ghazaleh Farmand
    AugenZentrum Siegburg, MVZ ADTC Siegburg GmbH, Rare retinal Disease Center, Siegburg, Germany
  • Sebastian Deutsch
    AugenZentrum Siegburg, MVZ ADTC Siegburg GmbH, Rare retinal Disease Center, Siegburg, Germany
  • Friederike Kortüm
    University Eye Hospital, University of Tübingen, Center of Ophthalmology, Germany
  • Pascale Mazzola
    University of Tübingen, Institute of Medical Genetics and Applied Genomics, Germany
  • Karin Schäferhoff
    University of Tübingen, Institute of Medical Genetics and Applied Genomics, Germany
  • Valerio Marino
    University of Verona, Department of Neurosciences, Biomedicine and Movement Sciences, Section of Biological Chemistry, Italy
  • Daniele Dell`Orco
    University of Verona, Department of Neurosciences, Biomedicine and Movement Sciences, Section of Biological Chemistry, Italy
  • Footnotes
    Commercial Relationships   Ulrich Kellner, None; Nicole Weisschuh, None; Silke Weinitz, None; Ghazaleh Farmand, None; Sebastian Deutsch, None; Friederike Kortüm, None; Pascale Mazzola, None; Karin Schäferhoff, None; Valerio Marino, None; Daniele Dell`Orco, None
  • Footnotes
    Support  None
Investigative Ophthalmology & Visual Science June 2021, Vol.62, 3220. doi:
  • Views
  • Share
  • Tools
    • Alerts
      ×
      This feature is available to authenticated users only.
      Sign In or Create an Account ×
    • Get Citation

      Ulrich Kellner, Nicole Weisschuh, Silke Weinitz, Ghazaleh Farmand, Sebastian Deutsch, Friederike Kortüm, Pascale Mazzola, Karin Schäferhoff, Valerio Marino, Daniele Dell`Orco; Autosomal dominant gyrate atrophy-like choroidal dystrophy revisited: 45 years follow-up and association with a novel missense variant. Invest. Ophthalmol. Vis. Sci. 2021;62(8):3220.

      Download citation file:


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

      ×
  • Supplements
Abstract

Purpose : To present long-term follow-up in autosomal dominant gyrate atrophy-like choroidal dystrophy (adGALCD) in two distantly related families and propose a possible genotype/phenotype correlation.

Methods : Clinical findings from two families, each with three affected patients, are presented. One of the families had been reported in part previously (Kellner et al 1997, doi: 10.1097/00006982-199709000-00008). Visual field testing, multifocal and full-field ERG recording according to ISCEV standards, as well as non-invasive retinal imaging (fundus photography, near-infrared reflection, fundus autofluorescence, optical coherence tomography) were performed in most patients. Diagnostic genetic testing was performed in two patients of each family using whole genome sequencing. Haplotype analysis was performed by genotyping SNPs and microsatellites in order to establish whether both families were distantly related.

Results : All affected patients presented with large confluent areas of choroidal atrophy beginning in the far periphery as well as peripapillary. Peripheral atrophy was first observed in the second decade of life. During progression, these areas continued to grow towards the foveal area, reaching the fovea at about 60 years of age. The fundus findings resemble gyrate atrophy, no or minimal pigmentary alterations were seen. In addition, subretinal lesions or choroidal neovascularization were not detected in these patients. Diagnostic genetic testing revealed a novel missense variant in a known gene in the heterozygous state in all affected family members. Haplotype analysis showed that the variant found in both families is identical by descent.

Conclusions : adGALCD presents a distinct phenotype with gyrate atrophy-like choroidal dystrophy, with early onset in the second decade of life and slow progression with preservation of the foveal area until late adulthood.

This is a 2021 ARVO Annual Meeting abstract.

×
×

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.

×