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Correlation between electroretinography, foveal anatomy and visual acuity in albinism

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Abstract

Background

Albinism patients have poor visual acuity in addition to hypopigmentation. Their foveal anatomy is abnormal, but correlation with function is incompletely understood. This study correlates retinal electrophysiology, visual acuity and optical coherence tomography (OCT) anatomy in albinism patients and compares with age-similar controls.

Methods

Institutional Review Board approval was obtained (IRB# 201408782). Patients were recruited from clinical practice. Inclusion criteria were at least three clinical features of albinism including iris transillumination, nystagmus, fundus hypopigmentation, or foveal hypoplasia on OCT and/or molecular genetic confirmation. Diagnosys (Lowell, Mass) full-field ERG (ffERG) and VERIS multifocal ERG (mfERG; Electro-Diagnostic Imaging, Milpitas, California) were obtained using standard International Society for Clinical Electrophysiology of Vision protocols. The mfERG protocol was a 4-min 103-hexagon protocol covering approximately 40° in diameter of central retina. Control subjects without albinism were recruited by in-hospital notices and invitations in clinic. OCT central thickness was recorded, and an OCT foveal score was calculated. Nonparametric permutation testing was utilized to determine the statistical significance.

Results

A total of 16 albinism patients and 19 age-similar controls were recruited. Four of 16 albinism patients had no nystagmus. Seventeen non-albinism controls had no ocular disorder other than refractive error. Two controls had infantile nystagmus with normal maculas on OCT. There was no statistically significant difference in mfERG amplitude or latency between albinism patients with or without nystagmus (lowest p = 0.68; 0.54, respectively). mfERG: 12 of 16 (75%) albinism patients had average ring 1 amplitudes within one standard deviation of controls despite having abnormal foveal anatomy on OCT. Patients averaged shorter latencies in rings 1 and 2 than controls (p = 0.005, p = 0.02). Patients averaged higher amplitudes than controls in rings 4, 5 and 6 (p = 0.03, p = 0.006, p = 0.004). There was no significant correlation between visual acuity and mfERG amplitudes in any ring (smallest p = 0.15). ffERG: Patients averaged higher amplitudes on 30 Hz flicker (p = 0.008). In all conditions, albinism patients had higher amplitude a-waves (p ≤ 0.03). B-waves were higher amplitude than controls in light-adapted 3.0 (p = 0.03). There was no statistical correlation between ffERG amplitudes and visual acuity (smallest p = 0.45). OCT: In albinism patients, thicker central macula on OCT correlated with lower mfERG amplitudes in all rings except for ring 1 (p < 0.05) and lower ffERG a-wave amplitudes on dark-adapted 0.01 (p = 0.003). Macular thickness on OCT did not correlate with visual acuity (p = 0.51); OCT foveal score did (p = 0.0004).

Conclusions

Amplitude of mfERG does not correlate with visual acuity in any ring in patients with albinism. The slope of the change in amplitude from central to peripheral rings on the mferg is significantly different in albinism patients versus controls whether or not nystagmus is present. The decreased slope of change in amplitudes from center to periphery of the macula in albinism patients indicates changes in macular topography that are more important to visual deficits than the foveal depression

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Acknowledgement

Frank Bertsch kindly supplied the graphic for Fig. 3. Portions of this study were presented at International Society for Clinic Electrophysiology of Vision (ISCEV) 2017, American Association for Pediatric Ophthalmology and Strabismus (AAPOS) 2017 and The Association for Research in Vision and Ophthalmology (ARVO) 2016.

Funding

Vision for Tomorrow foundation funded this research (Drack). Additional support came from the NIH (T35 HL007485) training grant, the Ronald Keech Professorship, Foundation Fighting Blindness and Research to Prevent Blindness grant funding. The sponsors had no role in the design or conduct of this research.

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Authors and Affiliations

  1. University of Iowa Institute for Vision Research, University of Iowa, 200 Hawkins Drive, Iowa City, IA, 52242, USA

    Zhaohui Hu, Kai Wang, Morgan Bertsch, Taylor Dunn, Taylor Kehoe, Andrew D. Kemerley, Megan Helms, Sajag Bhattarai, Wanda Pfeifer, Todd E. Scheetz & Arlene V. Drack

  2. Carver College of Medicine, University of Iowa, Iowa City, USA

    Zhaohui Hu, Morgan Bertsch, Taylor Kehoe, Todd E. Scheetz & Arlene V. Drack

  3. Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, USA

    Zhaohui Hu, Morgan Bertsch, Taylor Dunn, Taylor Kehoe, Andrew D. Kemerley, Megan Helms, Sajag Bhattarai, Wanda Pfeifer, Todd E. Scheetz & Arlene V. Drack

  4. College of Public Health, Department of Biostatistics, University of Iowa, Iowa City, USA

    Kai Wang

  5. Department of Pediatrics, University of Iowa, Iowa City, USA

    Arlene V. Drack

  6. University of Nebraska, Lincoln, USA

    Zhaohui Hu

  7. School of Osteopathic Medicine, Des Moines University, Des Moines, USA

    Andrew D. Kemerley

  8. University of Illinois, Chicago, USA

    Megan Helms

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  1. Zhaohui Hu
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Correspondence to Arlene V. Drack.

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All authors certify that they have no affiliations with or involvement in any organization or entity with any financial interest (such as honoraria; educational grants; participation in speakers’ bureaus; membership, employment, consultancies, stock ownership or other equity interest; and expert testimony or patent-licensing arrangements), or nonfinancial interest (such as personal or professional relationships, affiliations, knowledge or beliefs) in the subject matter or materials discussed in this manuscript.

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All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki Declaration and its later amendments or comparable ethical standards.

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No animals were used in this study; it is a human study, performed with IRB approval for the human subjects.

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Hu, Z., Wang, K., Bertsch, M. et al. Correlation between electroretinography, foveal anatomy and visual acuity in albinism. Doc Ophthalmol 139, 21–32 (2019). https://doi.org/10.1007/s10633-019-09692-9

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