Retinopathy of Megaloblastic Anaemia: Treatable and reversible.

A 14-year-old girl presented with yellowish skin for 20 days; dizziness and fatigability for 10 days; limb tingling and numbness for 7 days; fever, chills, and vomiting for 5 days; and intermittent, painless blurry vision bilaterally for 4 days. There were no other symptoms, and there was no history of blood transfusion of dyscrasia. She consumed a vegetarian diet. On examination, she had conjunctival pallor, scleral icterus, atrophy of tongue papillae, and hyperpigmentation of knuckles and dorsal feet. She had a systolic flow murmur at the left parasternal area, moderate hepatomegaly, and mild splenomegaly. She had decreased vibration sense in all 4 limbs, but the rest of her neurologic examination was normal. The best-corrected visual acuity was 6/6 (right) and 6/9 (left) with normal perimetry. Pupillary responses and intraocular pressure were normal. Fundus examination revealed bilateral multiple Roth spots, splinter and dot blot hemorrhages, subinternal limiting membrane macular hemorrhage, characterized by fine stria on the surface of the hemorrhage, and glistening light reflex, mild venous dilation, and a normal disc (Figure, A and B). Investigations revealed macrocytic anemia with hemoglobin of 2.3 g/dL (12-15), mean corpuscular volume of 112.8 fL (80-100) with the presence of macrocytes and macro-ovalocytes in the peripheral smear, low total leukocyte count of 2.3 × 109/L (4.5-11.0), and low platelet count of 115 × 103/μL (150-450). Liver function tests revealed unconjugated hyperbilirubinemia of 3.39 mg/dL (0.3-1.2). She had low serum vitamin B12 level of 78 pg/mL (>200), elevated lactate dehydrogenase level of 5265 U/L (100-190), and elevated homocysteine level of 55 μmol/L (<12). Coagulation, renal, and thyroid function tests were normal. For Roth spots and hemorrhages on fundus examination, the differential diagnosis usually includes bacterial endocarditis, acute leukemia, ocular or head trauma, blood dyscrasias, postcorneal/refractive surgery, autoimmune hemolytic anemia, thrombocytopenia, vasculitis, hypertension, and diabetes. Our case is an adolescent vegetarian girl who developed severe manifestations of vitamin B12 deficiency. Retinopathy in megaloblastic anemia manifests with cotton wool spots, retinal edema, venous dilatation and tortuosity, and retinal hemorrhages but bilateral Roth spots and subinternal limiting membrane macular hemorrhages are rare.1Macauley M. Nag S. Roth spots in pernicious anaemia.BMJ Case Rep. 2011; 2011 (bcr0120113734)Crossref PubMed Scopus (3) Google Scholar,2Gupta V. Bremner F.D. Telfer P. Bilateral retinal haemorrhages: an unusual presentation of pernicious anaemia.Br J Haematol. 2001; 112: 831Crossref PubMed Scopus (4) Google Scholar The fundus picture may mimic that of diabetes and hypertensive retinopathy. The condition is usually asymptomatic, but the patient may have intermittent blurring of vision and reduced field of vision. Anoxia, angiospasm, venous stasis, and increased capillary permeability are attributed to the pathogenesis of anemic retinopathy.3Vaggu S.K. Bhogadi P. Bilateral macular hemorrhage due to megaloblastic anemia: a rare case report.Indian J Ophthalmol. 2016; 64: 157-159Crossref PubMed Scopus (5) Google Scholar The girl was transfused with 2 units of packed red blood cells and treated with vitamin B12 and folate supplements. She had significant clinical improvement. Repeat fundus examination a month later revealed minimal residual findings (Figure, C and D). Retinopathy of nutritional megaloblastic anemia is reversible with treatment and prevents permanent vision loss.