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The relationship between foveal anatomy and retinal function in oculocutaneous albinism.

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Τίτλος: The relationship between foveal anatomy and retinal function in oculocutaneous albinism.
Συγγραφείς: Balakrishnan U; Carver College of Medicine, University of Iowa, 200 Hawkins Dr., Iowa City, IA, 52246, USA.; Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, IA, USA.; Cullen Eye Institute, Baylor College of Medicine, Houston, TX, USA., Wynne N; Department of Ophthalmology and Visual Sciences, Medical College of Wisconsin, Milwaukee, WI, USA., Pfeifer W; Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, IA, USA.; University of Iowa Institute for Vision Research, University of Iowa, Iowa City, IA, USA., Woertz E; Department of Ophthalmology and Visual Sciences, Medical College of Wisconsin, Milwaukee, WI, USA., Carroll J; Department of Ophthalmology and Visual Sciences, Medical College of Wisconsin, Milwaukee, WI, USA., Drack AV; Carver College of Medicine, University of Iowa, 200 Hawkins Dr., Iowa City, IA, 52246, USA. arlene-drack@uiowa.edu.; Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, IA, USA. arlene-drack@uiowa.edu.; University of Iowa Institute for Vision Research, University of Iowa, Iowa City, IA, USA. arlene-drack@uiowa.edu.; Department of Pediatrics, University of Iowa, Iowa City, IA, USA. arlene-drack@uiowa.edu.
Πηγή: Documenta ophthalmologica. Advances in ophthalmology [Doc Ophthalmol] 2026 Oct; Vol. 153 (2), pp. 223-234. Date of Electronic Publication: 2026 Jul 03.
Τύπος έκδοσης: Journal Article
Γλώσσα: English
Στοιχεία περιοδικού: Publisher: Kluwer Country of Publication: Netherlands NLM ID: 0370667 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2622 (Electronic) Linking ISSN: 00124486 NLM ISO Abbreviation: Doc Ophthalmol Subsets: MEDLINE
Imprint Name(s): Publication: Dordrecht : Kluwer
Original Publication: s'-Gravenhage [etc.]
Ιατρικοί όροι (MeSH): Fovea Centralis*/pathology , Fovea Centralis*/physiopathology , Albinism, Oculocutaneous*/physiopathology , Albinism, Oculocutaneous*/diagnosis , Retinal Cone Photoreceptor Cells*/pathology, Visual Acuity/physiology ; Ophthalmoscopy/methods ; Humans ; Tomography, Optical Coherence ; Electroretinography ; Female ; Male ; Adolescent ; Child ; Cell Count
Περίληψη: Purpose: 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).
Methods: 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.
Results: 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 (r2 = 0.73, p = 0.0049), but not central (r2 = 0.25), and did not correlate with steeper (more normal) mfERG topography (r2 = 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.
Conclusions: 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.
(© 2026. The Author(s).)
Competing Interests: Declarations. Conflict of interest: U. Balakrishnan, None; N. Wynne, None; W. Pfeifer, iScreen Vision Inc., Ocular Electrophysiology Consulting; E. Woertz, None; J Carroll, Translational Imaging Innovations (P, I), Meira GTx (F), AGTC (F); A.V. Drack, Spark Therapeutics (Research grant), InVision 2020 (Research grant), Fighting Blindness Canada (Research grant), Meira GTx (Collaborator). Statement of human rights: 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. Statement on the welfare of animals: No animals were used in this study; it is a human study, performed with IRB approval for the human subjects. Informed consent: Informed consent was obtained from all individual participants included in the study.
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Grant Information: T32GM080202 United States GM NIGMS NIH HHS; R01EY033580 United States EY NEI NIH HHS; R01EY024969 United States EY NEI NIH HHS
Contributed Indexing: Keywords: Adaptive optics; Electroretinography; Foveal hypoplasia; Oculocutaneous albinism; Retinal physiology
Entry Date(s): Date Created: 20260703 Date Completed: 20260928 Latest Revision: 20261001
Update Code: 20261001
PubMed Central ID: PMC13619688
DOI: 10.1007/s10633-026-10130-w
PMID: 42397659
Βάση Δεδομένων: MEDLINE
Περιγραφή
ISSN:1573-2622
DOI:10.1007/s10633-026-10130-w