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Riggs-type dominant congenital stationary night blindness: ERG findings, a new GNAT1 mutation and a systemic association

  • Clinical Case Report
  • Published:
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Abstract

Purpose

Complete congenital stationary night blindness (CSNB) is most often x-linked or recessive, and associated with a transmission defect from photoreceptors to bipolar cells. This produces a characteristic “negative” Schubert–Bornschein type of scotopic rod-cone electroretinogram (ERG) with a large a-wave and minimal b-wave. CSNB from abnormalities in phototransduction can be recessive or dominant and is much less common. This produces a Riggs type of ERG with loss of the rod a-wave as well as the b-wave. We report the clinical and ERG findings from a family with autosomal dominant CSNB that was shown previously to have a new GNAT1 mutation with a novel mechanism of action. They provide a classic demonstration of the Riggs-type ERG and have an unusual systemic association.

Methods

Clinical case report of a father and daughter.

Results

A Chinese father and daughter presented with good visual acuity, moderate myopia, and lifelong night blindness. Both show normal fundi except for mild myopia, and fundus autofluorescence and OCT images are normal. Their ERGs illustrate the typical Riggs-type ERG with no rod a-wave (they have only a small cone-dominated combined response). They also have postural orthostatic tachycardia syndrome (POST), which is an autonomic dysfunction disorder thought usually to be sporadic. The retinal gene analyses revealed no abnormalities that might account for POST.

Conclusions

Our family’s ERG showed essentially no rod response, consistent with a Danish GNAT1 pedigree but different from the Nougaret GNAT1 pedigree that shows partial preservation of rod signal. A genetic connection between CSNB and POST would be intriguing, but we found no evidence for this.

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Funding

MFM received research funding from a Retina Research Foundation award, and used departmental services supported by a grant from Research to Prevent Blindness, Inc.

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Authors and Affiliations

  1. Department of Ophthalmology and Byers Eye Institute, Stanford University School of Medicine, 2452 Watson Court, Palo Alto, CA, 94303-3216, USA

    Michael F. Marmor

  2. Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France

    Christina Zeitz

Authors
  1. Michael F. Marmor
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  2. Christina Zeitz
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Corresponding author

Correspondence to Michael F. Marmor.

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Neither author has any conflicts of interest.

Human and animal rights

The study conforms to the Declaration of Helsinki. No animals were used.

Informed consent

As a de-identified review entirely from clinical records, this study is exempt from Stanford Medical Center Institutional Review Board requirements and carries waiver of consent.

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Marmor, M.F., Zeitz, C. Riggs-type dominant congenital stationary night blindness: ERG findings, a new GNAT1 mutation and a systemic association. Doc Ophthalmol 137, 57–62 (2018). https://doi.org/10.1007/s10633-018-9651-0

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  • DOI: https://doi.org/10.1007/s10633-018-9651-0

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