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Two cases of unilateral cone–rod dysfunction presenting in adult females

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Abstract

Purpose

To describe cases of unilateral cone–rod dysfunction presenting in two middle-aged females.

Methods

This case series highlights two middle-aged female patients with progressive visual decline in one eye. Fundus photography, fundus autofluorescence (FAF), spectral-domain optical coherence tomography (SD-OCT), multi-focal electroretinogram (mfERG), full-field electroretinogram(ffERG), and genetic testing were obtained.

Results

In the first patient, mfERG showed an extinguished response and ffERG demonstrated markedly reduced a-wave and b-wave amplitudes (more pronounced under photopic conditions) in the right eye. SD-OCT showed attenuation of the ellipsoid zone of the right eye. Similar findings were appreciated in the second patient. Genetic testing in the first patient identified three heterozygous variants in PRPH2, RCBTB1, and USH2A. The second patient was found to have heterozygous variants in BBS1 and ABCA4.

Conclusion

These two cases add to the literature of case reports of unilateral cone–rod and rod-cone dystrophies. However, the underlying etiology of the unilateral pattern of cone–rod dysfunction and the significance of the heterozygous mutations found in both cases remains uncertain.

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Funding

The authors declared that they have no funding.

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Authors and Affiliations

  1. Department of Ophthalmology, NYU Langone Health, New York University, 222 East 41st Street, 3rd floor, New York, NY, 10017, USA

    Stephanie Choi, Saagar A. Pandit, Vivienne Greenstein & Scott E. Brodie

  2. Department of Ophthalmology, Vanderbilt University, Nashville, TN, USA

    Archana A. Nair

  3. Department of Ophthalmology, Columbia University, New York, NY, USA

    Vivienne Greenstein

  4. Department of Neurology, NYU Langone Health, New York University, New York, NY, USA

    Steven L. Galetta

Authors
  1. Stephanie Choi
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  2. Saagar A. Pandit
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  3. Archana A. Nair
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  4. Vivienne Greenstein
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  5. Steven L. Galetta
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  6. Scott E. Brodie
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Contributions

All authors attest that they meet the current ICMJE criteria for authorship.

Corresponding author

Correspondence to Scott E. Brodie.

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Conflicts of interest

The following authors have no financial disclosures: SP, AN, VG, SG, SB.

Informed consent

Informed consent was obtained from the participants included in this study. The participants have consented to the submission of the case report to the journal.

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All procedures performed in studies involving human participants were in accordance with the ethical standards of NYU Langone Health and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.

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Choi, S., Pandit, S.A., Nair, A.A. et al. Two cases of unilateral cone–rod dysfunction presenting in adult females. Doc Ophthalmol 145, 271–281 (2022). https://doi.org/10.1007/s10633-022-09893-9

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  • DOI: https://doi.org/10.1007/s10633-022-09893-9

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