Clinical and Subclinical Ophthalmic Findings with Retinol Deficiency

doi:10.1016/S0161-6420(94)38029-8

Ophthalmology

Volume 101, Issue 6, June 1994, Pages 1077-1083

https://doi.org/10.1016/S0161-6420(94)38029-8 Get rights and content

Background: Patients at risk for retinol deficiency in developed countries include those with hepatic dysfunction and malabsorption states. Symptoms of retinol deficiency may go unrecognized or unreported.

Methods: The authors describe 15 patients with hepatic dysfunction, two of whom had procedures that would predispose to malabsorption and were ophthalmologically symptomatic of retinol depletion. The other 13 patients were ophthalmologically asymptomatic liver transplant candidates examined prospectively for subdinical evidence of retinol deficiency. Combined laboratory analysis, Schirmer's testing, conjunctival impression cytology, and electroretinography were performed.

Results: Twelve of 15 patients had serum retinol levels below the lower limit of normal. Aqueous tear production was reduced in 7 of 14 patients. Abnormal conjunctival morphology was noted in 6 of 12 patients. Electroretinograms were abnormal in the two patients who were visually symptomatic and in seven of nine patients who were ophthalmologically asymptomatic.

Conclusion: Subclinical, physiologically significant retinol deficiency may be a frequent and unrecognized problem among patients with hepatic dysfunction.

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Cited by (26)

Characteristics of Vitamin A Deficiency Retinopathy at a Tertiary Referral Center in the United States
2024, Ophthalmology Retina
To explore the risk factors and fundus imaging features of vitamin A deficiency retinopathy (VADR) in an academic tertiary referral center in Atlanta, GA, United States, and to propose guidance regarding diagnostic workup and management of affected patients.
Single-center retrospective case series.
Nine patients seen between 2015 and 2021 at the Emory Eye Center diagnosed with VADR.
Retrospective chart review.
Baseline serum retinol level, Snellen visual acuity, multimodal fundus imaging findings, and electroretinography findings.
Nine patients, 4 (44.4%) female, with a median (range) age of 68 (50–75) years were identified. The most common underlying etiologies for vitamin A deficiency included history of gastrointestinal surgery (55.6%), liver disease (44.4%), and nutritional depletion due to low-quality diet (44.4%). Only 1 (11.1%) patient had a history of bariatric surgery. Four (44.4%) patients were on some form of vitamin A supplementation before the diagnosis of VADR. Median (range) serum retinol level was 0.06 (< 0.06–0.19) mg/L. All patients had macular subretinal hyperreflective deposits resembling subretinal drusenoid deposits, although in some cases, these were scant and sparsely distributed. Six eyes of 3 patients with longstanding deficiency had defects in the external limiting membrane (ELM). Three of these eyes additionally had macular areas of complete retinal pigment epithelium and outer retinal atrophy (cRORA). Full-field electroretinography demonstrated severe rod dysfunction and mild to moderate cone system dysfunction. Many findings of VADR were reversible with vitamin A repletion. However, all eyes with ELM defects or cRORA had persistence or continued growth of these lesions.
Vitamin A deficiency retinopathy is uncommon in the developed world. However, given that early intervention can lead to dramatic visual improvement and avoid potentially permanent retinal damage, retina specialists should be familiar with its clinical presentation. The presence of nyctalopia and subretinal hyperreflective deposits in a patient with a history of gastrointestinal surgery, liver disease, and/or poor diet can be suggestive of this diagnosis, even in the presence of ongoing vitamin A supplementation. Vitamin A supplementation can vary in route and dosage and can be tailored to the individual with serial testing of serum retinol.
The authors have no proprietary or commercial interest in any materials discussed in this article.
Diagnostic features of the autoimmune retinopathies
2014, Autoimmunity Reviews
Citation Excerpt :
Patients with npAIR may retain normal fundus appearance or develop subtle, granular pigment changes at the fovea [13,21]. Retinal dysfunction with a normal fundus appearance may also be found in hereditary cone dystrophies [28], AZOOR and the idiopathic big blind spot syndrome (IBBSS) [22,29], and vitamin A deficiency [30,31]. Field loss occurs in the majority of patients with AIR and the pattern of field loss is variable.
The term autoimmune retinopathy encompasses a spectrum of rare autoimmune diseases that affect retinal function, often but not exclusively at the level of the photoreceptor. They typically present with painless visual loss, which may be accompanied by normal fundus examination. Some are progressive, often rapidly. They present a diagnostic challenge because there are no standardised clinical or laboratory based diagnostic criteria. Included within the spectrum are cancer-associated retinopathy, melanoma-associated retinopathy and presumed non-paraneoplastic autoimmune retinopathy. Differentiation from other retinopathies can be challenging, with overlap in symptoms, signs, and investigation findings, and an absence of pathognomonic features. However, technological developments in ophthalmic imaging and serological investigation over the past decade are adding novel dimensions to the investigation and classification of patients with these rare diseases. This review addresses the clinical, imaging, and serological features of the autoimmune retinopathies, and discusses the relative strengths and limitations of candidate diagnostic features.
Vitamin A status in relation to electroretinographic and electrooculographic findings in HIV infection
2000, Clinical Neurophysiology
Objectives: To investigate the electrooculogram (EOG) and an expanded battery of electroretinograms (ERGs) in HIV-infected subjects without retinopathy at two different levels of immunosuppression. Consideration was given to the possible effects of serum levels of vitamin A.
Methods: Two groups of neurologically normal HIV-positive subjects with CD4+ cell counts of <200 (n=17) or >400 (n=19) were contrasted with 20 HIV-negative controls. Rod ERGs, oscillatory potentials and cone ERGs were obtained using ganzfeld stimulation. A sequence of dark- and light-adapted EOG recordings was analyzed to obtain light/dark ratios. The HIV-positive subjects underwent a comprehensive ophthalmologic examination.
Results: Intergroup comparisons failed to reveal any significant intergroup differences. Abnormal ERG findings, those exceeding the 98% confidence limits, occurred in 11% (4/36) of the HIV-positive subjects. One of these subjects was hyporetinemic and another had a subnormal retinol level. No subjects had abnormal EOGs.
Conclusions: HIV infection influenced retinal function in 11% of a group of neurologically normal subjects without clinical signs of retinopathy. The profile of electrophysiological findings suggested predominant functional deficits involving middle or inner retinal layers. Vitamin A deficiency and possible vascular changes could account for the observed ERG abnormalities.
Through a shade darkly
1999, Survey of Ophthalmology
Abnormalities of circadian rhythmicity in liver disease
1998, Journal of Hepatology
Xerophthalmia and vitamin A status
1998, Progress in Retinal and Eye Research
The existence of ‘fat-soluble A’ has been known for over 80 years. But until recently clinicians were almost wholly absorbed by the ocular changes accompanying deficiency (xerophthalmia), and scientists with the vitamin's metabolic role in the rhodopsin cycle.
The past two decades have witnessed a revolution in clinical and scientific concerns. Xerophthalmia is now recognized as a late manifestation of severe deficiency rather than of early, mild deficiency; as the mechanism responsible for half or more of all measles-associated blindness; and as the cause of half a million or more cases of pediatric blindness worldwide. Milder deficiency increases the severity of infectious morbidity, exacerbates iron deficiency anemia, retards growth, and is responsible for one to three million childhood deaths each year.
Scientists are now busy unraveling vitamin A-dependent gene regulation to explain the myriad manifestations accompanying deficiency, while clinicians are designing and supervising programs to improve vitamin A status in over 60 countries, up from only three countries two decades ago. Control of vitamin A deficiency is now a major health challenge and goal of both UNICEF and the World Health Organization (WHO). Reaching that goal requires better parameters for assessing vitamin A status, increased understanding of metabolic pathways responsible for corneal dissolution (keratomalacia) and the molecular and cellular basis by which vitamin A status mediates resistance to infection. These issues are detailed elsewhere (Sommer and West, 1996).

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: Presented in part as a poster at the ARVO Annual Meeting, Sarasota, May 1989.

: Supported in part by a departmental grant to the Department of Ophthalmology, Emory University School of Medicine, from Research to Prevent Blindness, Inc, New York, New York.

^*: Deceased.

View full text

Clinical and Subclinical Ophthalmic Findings with Retinol Deficiency

Lancet

Ophthalmology

Am J Ophthalmol

Exp Eye Res

Am J Ophthalmol

Lancet

Am J Ophthalmol

Surv Ophthalmol

Lancet

Am J Clin Nutr

Am J Ophthalmol

Am J Clin Nutr

Am J Ophthalmol

Ocular manifestations of vitamin A deficiency

Br J Ophthalmol

Vitamin A and rod-cone dark adaptation in cirrhosis of the liver

Science

Biochemical indicators of vitamin A depletion in children with cholestasis

Hepatology

Vitamin-A reversal of abnormal dark adaptation in cirrhosis.Study of effects on the plasma retinol transport system

Ann Intern Med

The occurrence of abnormal dark adaptation and its relation to vitamin A metabolism in patients with cirrhosis of the liver

J Clin Invest

Vitamin A deficiency with xerophthalmia and night blindness in cystic fibrosis

Am J Dis Child