The relationship between foveal anatomy and retinal function in oculocutaneous albinism

Uma Balakrishnan; Niamh Wynne; Wanda Pfeifer; Erica Woertz; Joseph Carroll; Arlene V Drack

doi:10.1007/s10633-026-10130-w

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The relationship between foveal anatomy and retinal function in oculocutaneous albinism

Journal article

Open access

Peer reviewed

The relationship between foveal anatomy and retinal function in oculocutaneous albinism

Uma Balakrishnan, Niamh Wynne, Wanda Pfeifer, Erica Woertz, Joseph Carroll and Arlene V Drack

Documenta ophthalmologica

07/03/2026

DOI: 10.1007/s10633-026-10130-w

PMID: 42397659

Appears in UI Libraries Support Open Access

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Abstract

To examine the relationship between multifocal ERG (mfERG) topography and peak cone density measured with adaptive optics scanning light ophthalmoscopy (AOSLO) in persons with albinism (PWA). We obtained best corrected visual acuity (BCVA), mfERG, retinal imaging with AOSLO, and optical coherence tomography (OCT) data in seven PWA and one control. The relationship between central peak cone density, mfERG amplitude topography, and foveal hypoplasia (FH) grade was calculated using Spearman rank correlation. Parafoveal cone densities among a subset of PWA were compared to a previously reported control group. All PWA had variably below average peak cone density, decreased BCVA, flattened mfERG topography, and FH. Higher peak cone density significantly correlated with higher peripheral mfERG amplitudes (r = 0.73, p = 0.0049), but not central (r = 0.25), and did not correlate with steeper (more normal) mfERG topography (r = 0.031). Parafoveal cone densities did not greatly differ outside of the central 2° (within Ring 1) between PWA and those of previously reported controls. The association of increased foveal cone packing with elevated peripheral, but not central mfERG amplitudes, suggests aberrant post-receptoral circuitry in the macula. The presence of excess connections between cone photoreceptors and bipolar cells, similar to the unrefined circuitry seen in fetal retinae, may underly the electrical dysfunction seen in these PWA, and explain why, even with milder FH and denser cone packing, normal visual acuity is often not achieved.

Electroretinography

Oculocutaneous albinism

Retinal physiology

Adaptive optics

Foveal hypoplasia

UIOWA OA Agreement

Details

Title: Subtitle: The relationship between foveal anatomy and retinal function in oculocutaneous albinism
Creators: Uma Balakrishnan - University of Iowa
Niamh Wynne - Medical College of Wisconsin
Wanda Pfeifer - University of Iowa
Erica Woertz - Medical College of Wisconsin
Joseph Carroll - Medical College of Wisconsin
Arlene V Drack - University of Iowa
Resource Type: Journal article
Publication Details: Documenta ophthalmologica
DOI: 10.1007/s10633-026-10130-w
PMID: 42397659
NLM abbreviation: Doc Ophthalmol
ISSN: 1573-2622
eISSN: 1573-2622
Publisher: Springer Nature
Grant note: R01EY024969 / NEI NIH HHS R01EY033580 / NEI NIH HHS T32GM080202 / NIGMS NIH HHS
Language: English
Electronic publication date: 07/03/2026
Academic Unit: Stead Family Department of Pediatrics; Ophthalmology and Visual Sciences
Record Identifier: 9985179240402771

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