Case of persistent corneal epithelial damage after cataract surgery leading to diagnosis of vitamin A deficiency.

PURPOSE: To report our findings of reduced full-field electroretinograms (ff-ERGs) and abnormal optical coherence tomographic (OCT) images in a patient with poor visual acuity after cataract surgery who was eventually diagnosed with vitamin A deficiency (VAD). METHODS: This was a clinical study of a patient who complained of blurred vision after cataract surgery. To determine the cause of the reduced vision, we recorded full-field electroretinograms (ff-ERGs) to determine the scotopic and photopic status of the retina. We also performed optical coherence tomography to assess the changes in the retinal structure. Serological tests were performed. RESULTS: A 74-year-old man presented with persistent corneal epithelial damages and reduced vision that developed after conventional cataract surgery. OCT showed an interrupted ellipsoid zone, and fundus autofluorescence (FAF) showed a severe hypofluorescence in the retina of the left eye. The scotopic ff-ERGs were severely reduced, and the photopic ff-ERGs were mildly reduced. Serological examinations revealed a vitamin A concentration < 7 IU/dL (normal, 97-316 IU/dL). Based on these findings, we diagnosed the patient with VAD and started treatment with oral vitamin A supplements. After three months, his visual acuity, ff-ERGs, and OCT findings recovered to normal levels. The amplitudes and implicit times of the RETeval flicker ERGs increased to be within the normal range, and the hypofluorescence of the left eye disappeared. The length of the photoreceptor outer segments increased after the vitamin A supplementation. CONCLUSION: Our findings indicate that the ERGs are helpful for diagnosing patients with VAD associated with persistent corneal epithelial damages.

Characteristics of Vitamin A Deficiency Retinopathy at a Tertiary Referral Center in the United States.

PURPOSE: 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. DESIGN: Single-center retrospective case series. SUBJECTS: Nine patients seen between 2015 and 2021 at the Emory Eye Center diagnosed with VADR. METHODS: Retrospective chart review. MAIN OUTCOME MEASURES: Baseline serum retinol level, Snellen visual acuity, multimodal fundus imaging findings, and electroretinography findings. RESULTS: 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. CONCLUSION: 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. FINANCIAL DISCLOSURE(S): The authors have no proprietary or commercial interest in any materials discussed in this article.

Vitamin A deficiency retinopathy related to medical interventions in a Swiss cohort: a case series.

AIMS OF THE STUDY: Vitamin A deficiency retinopathy is a potentially blinding disease. In developed countries, vitamin A deficiency due to malnutrition is rare. However, vitamin A deficiency can be caused by malabsorption resulting from bowel resection or medication. In this retrospective study, we present five cases of vitamin A deficiency retinopathy related to malabsorption secondary to medical interventions. METHODS: Electronic charts over a ten-year period (2012-2022) were screened for vitamin A deficiency retinopathy. Only patients with vitamin A deficiency confirmed by laboratory tests were included. Symptoms, medical history, visual acuity, optical coherence tomography, fundus autofluorescence, electrophysiological examination, and vitamin A levels were reviewed. RESULTS: Five eligible cases were identified. Median age was 44.7 years (range 22.2-88.9), median duration of ocular symptoms prior to diagnosis was 14 months, and median visual acuity was 1.0 (range 0.5-1.0, Snellen, decimal). Three patients had a history of bariatric surgery, one patient had a small bowel resection and was on octreotide treatment, and one patient suffered from cystic fibrosis and had a history of small bowel resection and severe hepatopathy. Optical coherence tomography showed various abnormalities, including a reduced interdigitation zone, subretinal drusenoid deposits, and a thinned outer nuclear layer. Electroretinogram findings ranged from abnormal oscillatory potentials to non-recordable rod responses. CONCLUSIONS: Vitamin A deficiency retinopathy can occur following medical interventions associated with malabsorption. In cases of night blindness, vitamin A levels should be measured.

Multimodal Imaging Study of Patients With Vitamin A Deficiency Retinopathy.

OBJECTIVES: To describe multimodal imaging findings of vitamin A deficiency retinopathy. METHODS: A retrospective study of patients with serum retinol < 0.3 mg/L. Fundus color photos, spectral domain-optical coherence tomography (SD-OCT), and fundus autofluorescence (FAF) were reviewed and, when available, electrophysiological tests were analyzed. RESULTS: Forty-five eyes (63.9 ± 15.7 years) were included. Ultra-widefield fundus photography showed drusen-like deposits (53.3%) and macular retinal pigment epithelium (RPE) mottling (40%). The deposits were hypoautofluorescent, and a perifoveal hyperautofluorescent ring was present in 8.9%. By SD-OCT, the ellipsoid zone had an irregular appearance (100%) and conical deposits anterior to the RPE (33.3%). Electroretinogram (ERG) (66.7%) showed a decrease in b-wave in the scotopic registers, and microperimetry (4.4%) showed decreased foveal sensitivity. After vitamin A supplementation, SD-OCT and FAF showed resolution of all findings. Forty percent of eyes had restoration of the scotopic registers in ERG and improved macular sensitivity by microperimetry (4.4%). CONCLUSIONS: Vitamin A deficiency causes a mild cone dysfunction in addition to the more severe absent rod response. [Ophthalmic Surg Lasers Imaging Retina 2023;54:330-336.].

Assessment of Skin Carotenoid Measurement as a Means to Detect Vitamin A Deficiency in Children and Pregnant Women of Nepal.

BACKGROUND: Vitamin A deficiency (VAD) is an ongoing public health concern among children and pregnant women in Nepal despite robust national efforts to screen and treat this vision- and life-threatening condition. OBJECTIVES: This study aimed to evaluate skin carotenoid scores measured using the Veggie Meter as a rapid, noninvasive screening tool for VAD in Nepali children and pregnant women. METHODS: This comparative cross-sectional study enrolled 164 pregnant women and 168 children (aged 8 to 12 y) from public hospitals in three distinct outlying ecological regions of Nepal (Terai, Hill, and Mountain). The primary outcome assessed whether skin carotenoid status could be a biomarker for VAD. We determined skin carotenoid scores using the Veggie Meter and compared them with serum retinol and total carotenoid concentrations assessed by HPLC. Correlation analysis was used to determine bivariate associations between serum retinol and total carotenoid concentrations, and the Veggie Meter assessed skin carotenoid status. Receiver operating characteristics curves were determined, and a P value <0.05 was considered statistically significant. RESULTS: We found that 8.5% of pregnant women and 13.0% of children in this study had severe VAD (serum retinol < 200 ng/mL). There were significant correlations between skin carotenoid scores with serum retinol and total carotenoid concentrations among pregnant women and children (r = 0.253-0.530, P ≤ 0.001). The Veggie Meter detected severe VAD with 57.1% sensitivity and 82.7% specificity in pregnant women and 61.9% sensitivity and 75.9% specificity in children. CONCLUSIONS: Although sensitivity and specificity were moderate for detecting VAD with the Veggie Meter, skin carotenoid assessment using this rapid, noninvasive portable device could still be valuable for high-risk VAD screening in Nepal and similar developing countries with limited access to laboratory measurement of serum vitamin A concentrations.

Case Report: Nyctalopia Due to Severe Liver Cirrhosis-induced Vitamin A Deficiency.

SIGNIFICANCE: Vitamin A is a micronutrient critical for retinal function. Patients with a deficiency may notice a progressive decline in night vision as rod photoreceptors become unable to regenerate rhodopsin. Although uncommon in developed nations, vitamin A deficiency should be considered in symptomatic patients with chronic, severe liver disease. PURPOSE: This report presents a rare case of night blindness secondary to poor vitamin A metabolism due to severe liver cirrhosis. CASE REPORT: A 62-year-old White woman presented with progressively worsening vision in dim lighting over the past 6 to 8 months. She was asymptomatic in daylight but "blind in the dark" to the extent that she was afraid to go outside at night. She had no personal or family history of night blindness or retinal disorders. Ocular health was unremarkable with dilation. Given her medical history of severe nonalcoholic liver cirrhosis, malabsorption of vitamin A was suspected and subsequently confirmed by the very low vitamin A level in her serum analysis. The patient was sent to endocrinology for evaluation, and appropriate repletion therapy was implemented. Subjective improvement in symptoms, along with better performance on visual field testing, was noted after initiating oral vitamin A supplementation for 5 months. CONCLUSIONS: Although vitamin A deficiency is a relatively rare disorder in the United States, it should be suspected in patients with severe liver disease or other conditions causing malabsorption who experience a loss of night vision.

Vitamin A deficiency and the retinal "double carrot" sign with optical coherence tomography.

BACKGROUND: Spectral-domain optical coherence tomography (SD-OCT) and full-field electroretinography (ERG) allow retinal assessment with vitamin A deficiency (VAD). Using SD-OCT, this study aimed to characterize and follow a novel retinal abnormality in patients with VAD and intramuscular supplementation. METHODS: Patients with VAD were retrospectively reviewed, including SD-OCT and electroretinography. RESULTS: Three patients had VAD following bariatric or colon surgery and varying supplementation. All had nyctalopia, extinguished scotopic rod-specific function with ERG, and decreased serum vitamin A. None demonstrated surface abnormalities. All received intramuscular vitamin A with subjective resolution of symptoms. On SD-OCT, four of six eyes exhibited homogenous foveal hyperreflectivity anterior to retinal pigment epithelium-Bruch complex, reminiscent of a "double carrot", which improved following supplementation. ERG findings demonstrated improved scotopic rod-specific function in all cases; however, photopic function remained diminished in two cases. CONCLUSIONS: Structural improvement of the proposed "double carrot" sign occurs soon after vitamin A supplementation. While scotopic function improves rapidly following supplementation, cone function recovers more slowly. Therefore, foveal changes such as the "double carrot" sign suggest that structural recovery of cones precedes functional recovery.

Documentation of recovery from vitamin A deficiency-related retinopathy via multimodal imaging and electroretinogram testing.

PURPOSE: To describe vitamin A deficiency using multimodal functional visual assessments and imaging. METHODS/CASE: A 50-year-old female with past medical history significant for Roux-en-Y gastric bypass surgery complained of nyctalopia and "yellowing" of vision. RESULTS: Vitamin A levels were noted to be < 0.06 mg/L (normal 0.3-0.12 mg/L). Fundus examination was notable for peripheral yellow punctate lesions, superior arcuate defects on HVF 30-2 testing, an indistinct ellipsoid zone on SD-OCT, and absent rod responses and severely reduced amplitudes for the cone photoreceptors on full-field ERG. These findings resolved with initiation of parenteral vitamin A supplementation. CONCLUSION: This report documents an example of vitamin A deficiency in the developed world. We aim to provide a comprehensive description of clinical examination and multimodal imaging findings before and after vitamin supplementation for vitamin A deficiency.

Clinical Report: Correlation of Serum Vitamins and Chalazion.

SIGNIFICANCE: We demonstrate the clinical correlation between the vitamin A level with chalazion in East Chinese children. Vitamin A deficiency is likely to be a potential cause of childhood chalazion. PURPOSE: Chalazion is the most common lid inflammatory lesion of the eyelid, which can be caused by retention of tarsal gland secretions. Studies have revealed that vitamin deficiency is an essential risk factor for children with chalazion. In this study, we measured the serum levels of vitamin A and 25-hydroxyvitamin D (25(OH)D), in patients with chalazion. METHODS: The study included 180 subjects (90 patients with chalazion and 90 control healthy subjects) with an average age of 4.13 ± 2.01 years, and 47.8% of whom were female. Serums came from blood samples collected and used to measure the levels of vitamin A and 25(OH)D. RESULTS: Both groups had statistically similar baseline characteristics, including age and body mass index. The average serum vitamin A levels in patients with chalazion (0.54 ± 0.15 µmol/L) were significantly lower than in their control counterparts (0.60 ± 0.15 µmol/L; P = .01). There was no significant difference in the serum 25(OH)D levels between the patients (70.15 ± 19.73 nmol/L) and control subjects (71.64 ± 24.46 nmol/L). The percentage of vitamin A deficiency in chalazion group (52.2%) was much higher than the control counterparts (28.6%; P = .001). The percentage of 25(OH)D deficiency showed no significant difference between patients with chalazion and control subjects (58.9 vs. 56.7%). CONCLUSIONS: Low serum vitamin A was significantly associated with chalazion in children. The serum 25(OH)D level exhibited no correlation with chalazion.

Light Perception Vision and Xerophthalmia in an 11-Year-Old Boy.

The authors present a case of a child who had severe dietary restriction with consumption of french fries only. He presented to the ophthalmology clinic with light perception vision in both eyes, and was found to have dry, leathery conjunctivae with Bitot's spots and hazy corneas with diffuse punctate epithelial erosions. Electroretinography testing showed an absent rod response and a decreased cone response. Laboratory testing results were positive for vitamin A deficiency. After prompt initiation of treatment, he had improvement in his vision and anterior segment findings. This case serves as a reminder that vitamin A deficiency can present in high-income countries, and that ophthalmologists may play a key role in diagnosing the condition, initiating treatment, and sending patients to the appropriate subspecialists for further evaluation and management of the underlying condition. For patients with vitamin A deficiency, ophthalmologists can play an essential role in preventing permanent vision loss and the systemic consequences of deficiency such as infection or death. [J Pediatric Opthalmology & Strabismus. 2022;59(3):e35-e38.].

Corneal opacification, an atypical presentation of cystic fibrosis: a case report and review of the literature.

BACKGROUND: Respiratory and gastrointestinal manifestations are the main causes of mortality and morbidity in cystic fibrosis. Although these symptoms are well recognized, ophthalmic involvement of cystic fibrosis secondary to vitamin A deficiency is uncommon and has been reported very rarely in the medical literature. CASE PRESENTATION: Here, we report a 2.5-year-old Iranian boy who presented with bilateral corneal xerosis and corneal opacity secondary to vitamin A deficiency related to cystic fibrosis malabsorption. CONCLUSION: Malabsorption of fat-soluble vitamins is a common presentation in cystic fibrosis, but corneal opacity secondary to vitamin A deficiency as the initial presentation of cystic fibrosis is a very rare manifestation of fat malabsorption. This highlights the importance of complete systemic examination besides ophthalmic examination in approaching a child with ophthalmic complaint.

Recognizing vitamin A deficiency: special considerations in low-prevalence areas.

PURPOSE OF REVIEW: Although vitamin A deficiency (VAD) is rare in well resourced countries, there is a growing trend of VAD in at-risk pediatric populations. Early diagnosis is critically important to prevent its associated morbidity and mortality. This review highlights key lessons for evaluation, diagnosis, and management of children with xerophthalmia in the United States. It synthesizes the latest findings from the literature on the pathophysiology, epidemiology, risk factors, evaluation, and management of VAD in low-prevalence areas. RECENT FINDINGS: Vitamin A is crucial for maintaining the functional integrity of the eye, immune system, skin, and mucous membranes. Despite the scarcity of VAD in developed countries, there are increasing reports of VAD in at-risk children, including those with autism spectrum disorder and gastrointestinal conditions. There is a broad range of manifestations of VAD, posing a diagnostic challenge. Familiarity with the variable presentations of VAD and having a high index of suspicion in at-risk populations can aid in its early diagnosis. Systemic vitamin A supplementation and a multidisciplinary approach are important components of the management of VAD. SUMMARY: Even in well resourced countries, VAD should remain on the differential in patients with risk factors who present with relevant signs and symptoms. Early diagnosis and appropriate involvement of a multidisciplinary care team can help prevent morbidity and mortality associated with VAD.

Bilateral keratomalacia secondary to xerophthalmia.

INTRODUCTION: Vitamin A deficiency leads to a wide spectrum of ocular manifestations ranging from conjunctival xerosis to corneal ulceration and perforation. Penetrating keratoplasty along with vitamin A supplementation can save the eye and useful vision. CASE: A 10-year-old boy presented with decreased vision in both eyes for 3 months. Slit-lamp examination with diffuse light revealed bilateral corneal thinning with iris prolapse at inferior aspect of cornea. He underwent therapeutic penetrating keratoplasty in both eyes. Vitamin A supplementation was given as per national protocol. Till 1 year postoperatively visual acuity in RE was 6/18 and LE was pre-phthisical. CONCLUSION: Vitamin A deficiency is potentially a sight threatening condition, which may lead to keratomalacia and corneal perforation if neglected. Timely management with Vitamin A supplementation and penetrating keratoplasty can save the eye and vision.

DISRUPTION OF THE OUTER SEGMENTS OF THE PHOTORECEPTORS ON OPTICAL COHERENCE TOMOGRAPHY AS A FEATURE OF VITAMIN A DEFICIENCY.

PURPOSE: To describe the optical coherence tomography features of vitamin A deficiency. METHODS: Case series includes three male patients aged 50 to 66 years with vitamin A deficiency and visual symptoms ranging from 2 to 8 months. Examination included optical coherence tomography (OCT), fundus autofluorescence imaging, full-field electroretinography6 and laboratory work-up. RESULTS: Patient 1 had inoperable pancreatic neuroendocrine tumor and presented with worsening nyctalopia. The electroretinography showed absent rod function 2 months after the onset of symptoms, followed by a decrease of the cone function eight months after the onset. Optical coherence tomography showed poorly distinguishable outer segments of the photoreceptors with the disappearance of the interdigitation zone. At that time, vitamin A deficiency along with several other deficiencies was confirmed. After the initiation of parenteral nutrition, a substantial improvement of the patient's overall well-being was noted and the OCT showed normalization of the retinal structure. Two other patients were diagnosed with vitamin A deficiency based on similar OCT features. CONCLUSION: Disruption of the outer segments of the photoreceptors and the disappearance of the interdigitation zone on OCT may be helpful in recognition of vitamin A deficiency. Early detection and malnutrition evaluation are especially important in patients with a history of gastrointestinal disorders who may have several other underlying deficiencies. Treatment with either enteral or parenteral nutrition not only leads to resolution of visual symptoms but vastly improves their general condition and quality of life.