Vitamin A deficiency is an enormous problem in the developing world,where UNICEF and other organizations now distribute more than 400 millionhigh-dose, biannual supplements every year. In developed countries vitaminA deficiency is rarely found. Xerophthalmia caused by vitamin deficiency hasbeen reported in food faddists and psychiatric patients.1 However,most of the cases observed in developed countries are due to alcoholism andconditions causing malabsorption.2 Sincebetter nutritional standards in affluent societies make vitamin A deficiencywith ocular complications rare, early diagnosis of such deficiency may beoverlooked. We report a case of bilateral keratomalacia caused by vitaminA deficiency, leading to bilateral irreversible blindness in a 6-year-oldAsian child living in New York, NY.
A 6-year-old Asian boy was referred to the Cornea Service of the MassachusettsEye and Ear Infirmary, Boston, in December 2002 with a 10-month history ofbilateral corneal ulceration, perforation, keratoplasty, and, finally, irreparableretinal detachments.
The parents reported that 3 months before their visit to an outsideinstitution, the boy appeared to have "swollen" eyes and gradual vision lossafter a classmate "splashed chocolate" in his face. He was brought to theemergency department of that institution, where he was given antihistamineeyedrops, and was discharged home with a diagnosis of an allergic reaction.
The parents subsequently took the child to a Chinese herbalist who gavethe patient unknown eyedrops for the next 2 days, with improvement of thechild's redness and swelling. The parents thought no further medical advicewas necessary. Three weeks afterward, however, they noticed that the boy didnot want to get out of bed because of photophobia and decreased vision. Theparents brought him to another medical institution in March 2002, where thephysicians discovered that the patient was on a strict vegetarian diet alsofollowed by the parents (no meat, no eggs, no dairy, and no fish). The boyhad narrowed his diet to potato chips, rice, soy milk, and tofu.
On examination, the child was not able to identify objects, and ophthalmologicexamination under anesthesia showed bilateral corneal perforation and conjunctivalkeratinization with aqueous leaking from the left eye. The patient was takento the operating room for bilateral debridement of the corneal ulcers andcorneal transplants. The postoperative note reported total corneal melts,epithelial ingrowth, extrusion of vitreous, and choroidal and retinal detachmentsin both eyes. The patient received 0.3% tobramycin and 0.1% dexamethasonesodium phosphate postoperatively.
The patient was found to be severely vitamin A and zinc deficient, aswell as mildly protein deficient. Vitamin A level was undetectable, zinc levelwas 45 µg/dL (6.9 µmol/L) (reference range, 57-113 µg/dL[8.7-17.3 µmol/L), and vitamin D level was 3 pg/mL (7.8 pmol/L) (referencerange, 8.9-47.0 pg/mL [23.1-122.2 pmol/L]). He received 5 days of high-dosevitamin A supplementation and 12 days of zinc supplementation, as well ashigh doses of cholecalciferol. The boy also had macrocystic anemia on admission,and therefore cyanocobalamin and iron supplementation was started. He alsoreceived treatment for thrombophlebitis of his right foot. He was dischargedafter 3 weeks of hospitalization.
On ophthalmic evaluation at Massachusetts Eye and Ear Infirmary in December2002, the patient had a visual acuity of no light perception in both eyes,extraocular motility was full in both eyes, and the eyes were soft by palpation.Slitlamp examination showed areas of corneal thinning and ectasia, severelyvascularized and conjunctivalized corneas, and no view of the anterior chamber.The patient was sent to the Retina Service for consultation. Ultrasonographyshowed a total cicatricial retinal detachment in the left eye, but only atraction detachment in the right eye that, to one examiner, appeared to havesome light perception (Figure 1).
External appearance of right eye (A) and left eye (B) 1 year afterbilateral corneal ulceration caused by vitamin A deficiency.
The patient came for follow-up 6 months later, and light perceptionin the right eye was confirmed. B-scan ultrasonography was identical to thatfrom his previous visit. The patient underwent an attempt at surgical rehabilitationof the right eye including removal of the conjunctival flap, penetrating keratoplasty(8.5 mm/8.0 mm), intracapsular cataract extraction, and anterior vitrectomy.
One month after surgery, visual acuity remained light perception inthe right eye and no light perception in the left eye. Slitlamp examinationshowed an edematous graft in the right eye and an opacified, vascularizedcornea in the left eye. Renewed B-scan ultrasonography in the right eye showedthat the patient now had total retinal detachment in a funnel configuration.The left eye showed a tight funnel retina as previously seen. This configurationwas considered inoperable, and given the extent of the patient's anteriorsegment problems, further surgery was deferred.
Xerophthalmia (xerosis, dry; ophthalmia, inflamed eye) is a term that includes all ocular manifestationsof vitamin A deficiency (night blindness to keratomalacia) and has been categorizedby the World Health Organization.
The differential diagnosis of keratomalacia includes severe sicca syndrome,exposure keratopathy, or corneal ulcer (infectious, neuropathic, or autoimmune).3 Xerophthalmic ulceration ranges from small, characteristicallysharp-margined ulcers located in the periphery of the cornea, to full-thickness,nearly limbus-to-limbus melting. The mechanism of corneal necrosis remainsunclear, but it has been postulated that inflammatory cells releasing proteasessuch as collagenases may be responsible for the corneal necrosis.4,5
When keratomalacia has progressed to almost total melt involving theentire cornea, vitamin A treatment has virtually no effect. Herein we havedescribed the unexpected tragic evolution of a case of vitamin A deficiencyin a boy from a highly educated, affluent family that was diagnosed late andled to blindness despite the best medical effort. This case reminds us onceagain that social customs, cultural differences, and lifestyle matter in makingan accurate and prompt diagnosis.
The authors have no relevant financial interest in this article.
Correspondence: Dr Dohlman, Department of Ophthalmology, MassachusettsEye and Ear Infirmary, 243 Charles St, Boston, MA 02114 (firstname.lastname@example.org).
Rodrigues MI, Dohlman CH. Blindness in an American Boy Caused by Unrecognized Vitamin A Deficiency. Arch Ophthalmol. 2004;122(8):1228-1229. doi:10.1001/archopht.122.8.1228