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.

CHOROIDAL OSTEOMA IN AN INFANT.

PURPOSE: To describe a case of choroidal osteoma with macular involvement in an infant that was treated with transpupillary thermotherapy. METHODS: A case report. RESULTS: An 11-month-old infant presented for retinopathy of prematurity follow up examination and was found to have a three disc-diameter round, orange, subretinal, slightly elevated lesion with well-defined margins in the superior macula of the left eye. B-scan ultrasonography showed a slightly elevated, highly reflective choroidal mass with acoustic shadowing. A diagnosis of choroidal osteoma was made. Six months later, repeat examination under anesthesia (EUA) showed the lesion to be increasing in size and encroaching on the fovea. Given demonstrated growth and the risk of central vision loss, the patient was treated with transpupillary thermotherapy (TTT). Subsequent EUAs, over a period of four months, have shown complete decalcification with no subsequent growth. CONCLUSION: Choroidal osteomas are benign lesions that can be sight threatening if located in the macula. TTT in this case resulted in complete regression of a sight threatening extrafoveal choroidal osteoma at four month follow up.