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Show Journal of Neuro- Ophthalmology 16( 2): 115- 119, 1996. i 1996 Lippincott- Raven Publishers, Philadelphia Mastocytosis- Induced Nyctalopia Robert L. Lesser, M. D., Scott E. Brodie, M. D., Ph. D., and Stephanie L. Sugin M. D. Systemic mastocytosis is characterized by an increased number of mast cells in multiple organs particularly skin. A 55- year- old man with mastocytosis presented with nyctalopia caused by malabsorption of vitamin A. Diagnosis was made by documenting a low vitamin A level and an ERG that showed rod- cone deficiency with rods affected more than cones. Vitamin A therapy led to return of good visual function. To our knowledge, this is the first reported case of mastocytosis induced nyctalopia. Vitamin A deficiency should be considered as a potential cause of visual loss in patients with sudden onset of night blindness. Key Words: Mast cell- Mast cell disease- Malabsorption- Vitamin A deficiency- Nyctalopia. Although nutritionally induced night blindness was first recognized by the ancient Egyptians, it was not until the early part of the twentieth century that vitamin A deficiency was identified as the specific cause ( 1,2). Since the vitamin A that is stored in the liver protects against deficiency for several months, nyctalopia occurs only in prolonged vitamin A deficiency. In Third World countries, nyctalopia is most frequently caused by severe malnutrition ( 3). In developed countries, nyctalopia is rare, occurring usually in people who have diseases that interfere with the absorption or metabolism of vitamin A. We report the first case of nyctalopia caused by malabsorption as a result of mastocytosis. Manuscript received January 20, 1995; accepted May 4, 1995. From the Department of Ophthalmology & Visual Science ( R. L. L.), Yale University School of Medicine, New Haven, Connecticut; Department of Neurology ( R. L. L.), University of Connecticut Health Center, Farmington, Connecticut; Department of Ophthalmology ( S. E. B.), Mt. Sinai Medical Center, New York, New York; and Ophthalmic Surgical Associates ( R. L. L., S. L. S.), Waterbury, Connecticut, New Haven, Connecticut, U. S. A. Address correspondence and reprint requests to Dr. Robert L. Lesser, 60 Temple Street, New Haven, CT 06510, U. S. A. CASE REPORT In October 1992, a 55- year- old man noted multiple black spots in the sky at dusk followed within a few days by photophobia and dimming of vision, particularly at night. He was color blind since childhood; four years previously posterior subcapsular cataracts were diagnosed. He had mastocytosis since childhood with systemic and cutaneous involvement including urticaria pigmentosa, hepatosplenomegaly, ascites, gastrointestinal bleeding, and diarrhea. He had a history of avoiding leafy vegetables and did not take any vitamin supplements. In October 1992, his visual acuity was best corrected to 20/ 50- 2 in the right eye and 20/ 60- 2 in the left. External examination was normal; no redness of the eyes and no keratinization of the cornea or conjunctiva were noted; no Bitot's spots were seen. Pupils were 4 mm and reacted 3- 4 + ; eye movements were full. He had 2+ focal posterior subcapsular cataracts. Both discs were pale, and the arteries were narrowed. He had a prominent choroidal pattern with no pigment noted in the periphery and no cells in the vitreous. Visual fields 225 116 R. L. LESSER ET Ah. showed bilateral cecocentral scotomas with breaking through of the scotoma to the peripheral temporal field in the left eye ( Fig. 1). Farnsworth D15 color vision testing showed a protanopic defect. A fluorescein angiogram was normal. ERG recordings were obtained from both eyes simultaneously. Under photopic conditions, B- wave amplitudes measured 60- 70 | xV, with B- wave implicit times of 30.5 ms. ( Normal values: photopic B- wave amplitude: greater than 60 jxV; photopic B- wave implicit time: less than 33.0 ms.) Response to 30- Hz photopic flicker yielded waves with a peak- to- peak amplitude of 50- 60 ( i, V and normal latency. ( Normal values: 30- Hz flicker peck- to- peak amplitude: greater than 60 \ xN; flicker latency: less than 33.0 ms.) After dark adaptation, responses were much more severely attenuated. The response to blue flash was undetectable, while the response to red was minimally better. The maximal response of the dark- adapted eye to a strong white flash stimulus yielded B- wave amplitudes of approximately 40- 50 | aV. ( Normal value: maximal scotopic B- wave amplitude: greater than 250 | JLV.) Oscillatory potentials were unmeasur-able. This pattern indicated a rod- cone pattern of retinal dysfunction, with rods involved to a much greater degree than cones ( Fig. 2). Assays for interphotoreceptor retinoid binding protein, retinal S antigen, rhodopsin, and retinal CAR antigen were negative. Blood levels of vitamin A were 19 ( Jig/ ml ( normal 20- 80 u^ g/ ml). Mag- FIG. 1. Goldmann visual fields demonstrating paracentral scotomas that are greater more temporally. J Neuro- Ophthalmol, Vol. 16, No. 2, 1996 FIG. 2. Pretreatment and posttreatment electroretino-grams. ERG responses to photopic single- flash stimulation ( upper left), 30- Hz photopic flicker ( lower left), scotopic blue single flash ( upper right), and maximal scotopic single flash ( lower right) are shown. For each recording condition, pretreatment responses are shown above, and responses following vitamin A supplementation are shown below. In each pair of tracings, the upper tracing derives from the right eye, the lower tracing from the left eye. Scale markers indicate 50 ms ( horizontal) and 100 | xV ( vertical). nesium level was low, but vitamin E, vitamin K, prothrombin, and partial thromboplastin time were normal. After three daily treatments with 30,000 units of vitamin A, he noted dramatic improvement of his MASTOCYTOSIS- INDUCED NYCTALOPIA 117 vision. After treatment, the visual fields showed loss of the cecocentral scotomas and the ERG returned to normal. DISCUSSION Nyctalopia is the earliest and most common manifestation of vitamin A deficiency. In Third World countries, where vitamin A deficiency is a major health problem secondary to malnutrition, night blindness has been demonstrated to be the most effective screening device for detection of vitamin A depletion ( 3). Nyctalopia has been reported in patients with malabsorption syndrome, liver disease, after colon resection, cystic fibrosis ( 4- 6), and after jejunoileal bypass surgery ( 1,7- 18). Gans and Taylor ( 4) described a patient with a 20- year history of Crohn's disease who, after multiple small bowel resections, noted difficulty seeing in dim light. His ERG revealed a flat scotopic response and a decreased photopic response. After treatment with 50,000 units daily of vitamin A, he had marked improvement in visual function within three days. No other vitamin supplements were added. At least nine cases of nyctalopia after jejunoileal bypass surgery for obesity have been reported. Although effective in reducing body weight by 25- 40%, this type of surgery has many complications, including electrolyte loss, chronic diarrhea, vitamin depletion, and liver disease. Onset of nyctalopia occurred from two to 11 years after surgery ( 7- 10,12,13,15,18). In most cases, there were no other signs of vitamin A deficiency, and recovery of normal visual function occurred within days to months after the beginning of vitamin A therapy. Cirrhosis has been described after bypass surgery and may also play a role in vitamin A deficiency. Rods appear to be much more susceptible to vitamin A deficiency than cones ( 19- 21), perhaps because of competitive capture of vitamin A by the cones. Recovery rates of the rods depend on previous damage to the retina. In those patients for whom recovery occurs within hours to days, there is minimal underlying damage to the photoreceptors ( 22). In vitamin A- deficient rats, the outer segment of rods become abnormal or disappear after 7- 13 weeks. In vitamin A deficiency, the A wave first disappears on ERG, followed by loss of the B wave, with the scotopic ERG more affected than the photopic ERG. Our patient showed evidence of waxy disc pallor, as might be seen in association with retinitis pigmentosa. We do not feel that the visual field defects were caused by optic atrophy since there was reversal with treatment with vitamin A. The visual field defects seen in our patient are similar to those reported by Newman et al. in their first patient ( 16). Since the visual field defect improved with vitamin A supplement alone, it is unlikely that deficiencies of other vitamins caused visual loss. Mastocytosis is characterized by an increased number of mast cells in different organs ( 22). While most commonly seen in the skin, mastocytosis may also involve bone, hematopoietic system, gastrointestinal tract ( 23), liver, spleen, FIG. 3. Mast cells in cutaneous mastocytosis with densely staining nuclei. ( Courtesy of Jack Longley, M. D.) / Neuro- Ophthalmol, Vol. 16, No. 2, 1996 118 R. L. LESSER ET AL. lymph nodes, cardiovascular system, and central nervous system. Signs and symptoms include pruritus, facial flushing, bronchoconstriction, headache, hypotension, and syncope. The most common systemic findings are anemia, leukocytosis, hepatosplenomegaly, and bone marrow involvement. Signs and symptoms of the disease vary depending upon specific organs involved. The protean clinical manifestations of the disease are caused by the release of mediators such as histamine, prostaglandins, and leukotrienes. Diagnosis is made by the demonstration of mast cell hyperplasia on tissue biopsy ( Fig. 3). Mastocytosis is thought to be secondary to a reactive hyperplasia caused by an altered metabolism of mast cell growth factor ( 22). Most cases are first diagnosed in childhood, with over half of the patients diagnosed before age 6 months. Because of its most common cutaneous presentation, it was first described as urticaria pigmentosa. Typical skin manifestations include ( a) multiple red- brown papules with predilection for the trunk and the extremities, ( b) mastocytomas, ( c) diffuse erythrodermic mastocytosis, and ( d) telangiectasia ( Fig. 4). Malabsorption, as in our patient, may be due to gastric hypersecretion secondary to increased levels of histamine, prostaglandin D2, and/ or mast cell infiltration in the ileum and jejunum ( 24). Our patient's vitamin A deficiency may have been aggravated by his decreased intake of leafy vegetables and lack of vitamin supplements. Mast cells in the conjunctiva, episclera, choroid, ciliary body, and iris play an important role in allergic conjunctivitis and uveitis ( 25). Isolated mastocytomas of the lid ( 26) and the orbit ( 27), as well as dry eye ( 28) have been reported as rare ocular manifestations of mastocytosis. In a review of 66 optic nerve specimens, mast cells were found in FIG. 4. Patient with mastocytosis showing round or oval reddish brown macules or papules on trunk and extremities. the meninges of all optic nerves and in the optic nerve parenchyma of four specimens ( 29). Three patients had neovascularization, and one had a history of optic neuritis. Degranulation of mast cells may change the permeability of the blood-brain barrier and play a role in optic neuritis. To our knowledge, this is the first reported case of mastocytosis- induced nyctalopia. Vitamin A deficiency should be considered as a potential cause of visual loss in any patient with sudden onset of night blindness. REFERENCES 1. Sommer A, Hussaini G, Muhilal, Tarwotjo I, Susanto D, Saroso JS. History of nightblindness: a simple tool for xerophthalmia screening. Am } Clin Nutr 1980; 33: 887- 91. 2. Parker WT, Clorfeine GS, Longstreth GF. Night blindness after jejunoileal bypass surgery. Am } Gastroenterol 1985; 80 ( 7): 535- 7. 3. Perlman I, Barzilai D, Haim T, Schramek A. Night vision in a case of vitamin A deficiency due to malabsorption. Br ] Ophthalmol 1983; 67: 37- 42. 4. Gans M, Taylor C.: Reversal of progressive nyctalopia in a patient with Crohn's disease. Can J Ophthalmol 1990; 25( 3): 156- 8. 5. 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