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

Two cases of unilateral cone–rod dysfunction presenting in adult females PurposeTo describe cases of unilateral cone–rod dysfunction presenting in two middle-aged females.MethodsThis 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.ResultsIn 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.ConclusionThese 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. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Documenta Ophthalmologica Springer Journals

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

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References (16)

Publisher
Springer Journals
Copyright
Copyright © The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature 2022. Springer Nature or its licensor holds exclusive rights to this article under a publishing agreement with the author(s) or other rightsholder(s); author self-archiving of the accepted manuscript version of this article is solely governed by the terms of such publishing agreement and applicable law.
ISSN
0012-4486
eISSN
1573-2622
DOI
10.1007/s10633-022-09893-9
Publisher site
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Abstract

PurposeTo describe cases of unilateral cone–rod dysfunction presenting in two middle-aged females.MethodsThis 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.ResultsIn 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.ConclusionThese 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.

Journal

Documenta Ophthalmologica – Springer Journals

Published: Dec 1, 2022

Keywords: Unilateral retinal dystrophy; Retinitis pigmentosa; Cone–rod dystrophy; Electroretinogram

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