Retinal structure in vitamin A deficiency as explored with multimodal imaging
Abstract
Purpose To define the retinal structural abnormalities in a patient with vitamin A deficiency. Methods The patient had a complete ophthalmic examination, electroretinography (ERG), short-wave fundus autofluorescence (SW-AF) and spectral domain optical coherence tomography (SD-OCT) imaging. Serum vitamin A levels were measured. Results A 63-year-old man with alcoholic cirrhosis, sclerosing cholangitis and chronic pancreatitis experienced blurred vision and nyctalopia for over a year. There was no family history of eye disorders or consanguinity. His best-corrected visual acuity was 20/20 in each eye; color vision as determined with Ishihara color plates was normal in each eye. Anterior segment examination was unremarkable. He was pseudophakic in both eyes. Standard ERGs showed non-detectable rod function, a cone-mediated dark-adapted response to the standard flash and borderline reduced cone function. Serum vitamin A levels were below 0.06 mg/L (normal 0.3-1.2 mg/L). Fundus examination revealed numerous round yellow-white lesions along the superior arcade and nasal to the optic nerve in both eyes. These lesions were hypoautofluorescent on SW-AF. SD-OCT cross sections demonstrated that they were focal disruptions distal to the ellipsoid band of the photoreceptors with hyperreflective images bulging up the ellipsoid and region. The retinal pigment epithelium and the inner retina appeared intact. Limited and gradual vitamin A supplementation for over a month (20 000 IU/day) led to a dramatic improvement in retinal function and to the resolution of the symptoms. The retinal lesions remained unchanged. Conclusions Imaging of this patient with nyctalopia and severe rod dysfunction suggests that the retinal white lesions known to occur in vitamin A deficiency localize to the photoreceptor layer, particularly the outer segment. On OCT, they are reminiscent of lesions observed in genetic diseases with retinoid cycle dysfunction and of drusenoid subretinal deposits, an abnormality commonly associated with age-related macular degeneration.
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Vitamin A deficiency can be monitored by fundus autofluorescence imaging, which may reveal hypoautofluorescent lesions and decreased autofluorescence signal.
“Similarly, vitamin A deficiency can be monitored by fundus autofluorescence (FAF) imaging. It may reveal hypoautofluorescent lesions [84,85] and decreased autofluorescence signal [86,87,88].”
From The Role of Vitamin A in Retinal Diseases (2022) · cites this paper as [84]
Vitamin A is needed for normal visual function, and vitamin A deficiency (hypovitaminosis A) results in visual dysfunction that is reversible with vitamin A supplementation.
“Vitamin A is needed for normal visual function and vitamin A deficiency (hypovitaminosis A) results in visual dysfunction that is reversible with vitamin A supplementation.”
From The Role of Vitamin A in Retinal Diseases (2022) · cites this paper as [84]
Vitamin A replacement results in improvement of retinal function as well as structure, but long-term deficiency can lead to permanent degeneration of photoreceptors.
“Vitamin A replacement results in improvement of retinal function as well as structure, however long-term deficiency can lead to permanent degeneration of photoreceptors [31,80,81,83,84,85,86,87,88,90].”
From The Role of Vitamin A in Retinal Diseases (2022) · cites this paper as [84]
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Kishimoto, N., Hayashi, T., Mizobuchi, K., Kubota, M., & Nakano, T. (2021) · Documenta Ophthalmologica · doi:10.1007/s10633-021-09823-1 · Cited by 3 · see citing works
Optic neuropathy associated with vitamin A deficiency in children: a case series
Bourke, C., Panteli, V., Marmoy, O. R., Thompson, D., Mankad, K., Sudhakar, S. V., James, G., Garnham, J., Connor, A. J., Cheung, M., et al. (2025) · Journal of American Association for Pediatric Ophthalmology and Strabismus · doi:10.1016/j.jaapos.2025.104277 · Cited by 2 · see citing works
Shoeibi, N., Khazaei, S., & Shariati, M. M. (2025) · Clinical Case Reports · doi:10.1002/ccr3.70896 · Cited by 2 · see citing works
Anti-Retinal Antibodies in Vitamin A Deficiency
Ellis, M., Chang, M. Y., & Yiu, G. C. (2020) · Ophthalmic surgery, lasers & imaging retina · doi:10.3928/23258160-20201202-07 · Cited by 2 · see citing works
Diagnostic and Therapeutic Challenges
Elshatory, Y. M., Carver, A., Shah, V. A., & Alemán, T. S. (2015) · Retina · doi:10.1097/iae.0000000000000704 · Cited by 2 · see citing works
Posterior placoid-like maculopathy and macular hole associated with vitamin A deficiency
Lai, E. W., Dinh, R. H., Do, B. K., & Schechet, S. A. (2022) · American Journal of Ophthalmology Case Reports · doi:10.1016/j.ajoc.2022.101772 · Cited by 1 · see citing works
Optical Coherence Tomography Findings in Glaucoma With Coexisting Vitamin A Deficiency
Asrani, S., & Aggarwal, S. (2024) · Journal of Glaucoma · doi:10.1097/ijg.0000000000002405 · Cited by 1 · see citing works
Ocular manifestations of vitamin A deficiency in gastrointestinal and hepatobiliary disease
Lai, E. W., Lee, T., Chen, G., Lai, S., Kang, P., & Schechet, S. A. (2026) · Frontiers in Ophthalmology · doi:10.3389/fopht.2026.1779060 · Cited by 1 · see citing works
Cardiovascular Disease and Age-Related Macular Degeneration
Smith, R. T., & Rosenfeld, P. J. (2026) · American Journal of Ophthalmology · doi:10.1016/j.ajo.2026.05.003 · Cited by 1 · see citing works
Lashari, M. H., Abdullah, A., Nazir, F., Iqbal, A., Afzal, M. A., Farooq, U., İdris, M., Khan, M. A., Shahzad, F., Azam, M., et al. (2025) · BMC Veterinary Research · doi:10.1186/s12917-025-04618-x · Cited by 1 · see citing works
Imaging of Retinal and Choroidal Manifestations of Gastrointestinal Disease
Rodriguez, F. J. B., Becerra, C., & Gabela, M. C. (2017) · Springer eBooks · doi:10.1007/978-981-10-5461-7_6 · Cited by 1 · see citing works
Acquired night blindness due to rod dysfunction after long-term hemodialysis
Ueno, S., & Okado, S. (2021) · Japanese Journal of Ophthalmology · doi:10.1007/s10384-021-00883-z · Cited by 1 · see citing works
Retinitis Pigmentosa and Allied Diseases
Alemán, T. S. (2021) · Springer eBooks · doi:10.1007/978-3-319-90495-5_1-2 · Cited by 1 · see citing works
Ledesma‐Gil, G., Querques, G., Souied, E. H., Smith, R. T., Otero-Marquez, O., & Mainster, M. A. (2022) · Retina · doi:10.1097/iae.0000000000003565 · Cited by 1 · see citing works
“Autopsy Eye” – The Eye in Systemic Disease
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Retinal flecks, dots and crystals
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“Autopsy Eye”: The Eye in Systemic Disease
Roberts, F., & Thum, C. K. (2021) · Springer eBooks · doi:10.1007/978-3-030-76525-5_9
Multicolor Imaging Highlights Xerophthalmic Fundus
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Choroidal Thickening and Outer Retinal Alterations in Vitamin A Deficiency: A Case Report
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Reticular pseudodrusen load is associated with an increased risk of stroke
Schwartz, R., Olvera‐Barrios, A., Warwick, A., Khalid, H., Phatak, S., Jhingan, M., de Vente, C., Valmaggia, P., Liakopoulos, S., Ouyang, Y., et al. (2026) · BMJ Open Ophthalmology · doi:10.1136/bmjophth-2025-002481
- Authors
- Aleman, T. S., Garrity, S. T., & Brucker, A. J.
- Affiliations
- University of Pennsylvania (US)
- Venue
- Documenta Ophthalmologica
- Published
- 2013-07-31
- Volume
- 127
- Issue
- 3
- Pages
- 239-243
- ISSN
- 0012-4486 (ISSN-L)
- 1573-2622
- OpenAlex
- W1973167901
- Cited by
- 81
- References
- 34
- Citations by year
- 2026: 6 · 2025: 6 · 2024: 7 · 2023: 7 · 2022: 11 · 2021: 10 · 2020: 4 · 2019: 5 · 2018: 5 · 2017: 6 · 2016: 6 · 2015: 3 · 2014: 4 · 2013: 1
- FWCI
- 2.09
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Documenta Ophthalmologica (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Retinal Development and Disorders
- Health Sciences › Medicine › Ophthalmology › Retinal Diseases and Treatments
- Health Sciences › Medicine › Ophthalmology › Drug-Induced Ocular Toxicity
- Keywords
- vitamin A deficiency, retinal structure, photoreceptor outer segments, rod photoreceptor dysfunction, night blindness, fundus autofluorescence, spectral-domain optical coherence tomography, vitamin A supplementation, alcoholic cirrhosis, sclerosing cholangitis, chronic pancreatitis
- MeSH terms
- Electroretinography, Fluorescein Angiography, Humans, Male, Middle Aged, Night Blindness, Retina, Visual Acuity, Vitamin A, Vitamin A Deficiency, Photoreceptor Cells, Vertebrate, Tomography, Optical Coherence, Retinal Pigment Epithelium, Multimodal Imaging
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