Spontaneously resolved severe retinopathy associated with aplastic anemia.

Aplastic anemia is a rare, usually autoimmune disorder of bone marrow stem cells leading to pancytopenia and hypoplastic marrow that presents with anemia, infection or bleeding which can be potentially sight and life-threatening. Patients with aplastic anemia may present with various ocular manifestations; lid and orbital hematoma, sub-conjunctival hemorrhage, sudden visual loss due to vitreous hemorrhage or retinopathy and optic disc edema. A young male patient had symptomatic sever bilateral hemorrhagic retinopathy secondary to aplastic anemia; succeeding systemic allogenic hematopoietic stem-cell transplantation showed almost complete spontaneous resolution of the retinopathy and significant improvement in vision over a period of 16 weeks. Copyright:

A 36-year-old male revealed pancytopenia on complete blood count: (white blood cells [WBC] 1.72, [normal 5.5–15.5 109/L]; platlets: 14.36, [normal: 150–450 109/L]; red blood cells [RBC]: 3.25 [normal: 4.10–5.40 1012/L], and hemoglobin [Hb]: 9.7 [normal: 11.0–14.5 g/dl]) and marked hypocellularity on bone marrow biopsy, finally established a diagnosis of aplastic anemia of unknown etiology. Aplastic anemia is an autoimmune disorder of bone marrow stem cells caused by viruses, drugs, irradiation, or inherited disease like Fanconi anemia,[1] leading to pancytopenia and hypoplastic marrow that presents with anemia, infection, or bleeding and potentially life-threatening[2] and may present with sudden visual loss due to vitreous, preretinal, and retinal hemorrhages develop due to blood turbulence, endothelial damage, and bleeding diathesis[3] and optic disc edema.[4]

At first instance, the patient was managed with random donor platelet transfusions to replenish thrombocytopenia then treated with allogenic hematopoietic stem-cell transplantation (HSCT) to restore hematopoiesis and cure the pathology. During the course of disease, the patient developed sudden painless diminution of vision in both eyes. Initially, best-corrected visual acuity (BCVA) was 0.4 in the right eye (OD) and 0.17 in the left eye (OS), bilateral anterior segments were normal; on dilated fundus examination, bilateral dense, multiple retinal, and subinternal limiting membrane (ILM) hemorrhages involving the macula with scattered Roth's spots were noticed [Figure 1a and b]. Optical coherence tomography (OCT) of macula revealed retinal and sub-ILM hemorrhages [Figure 1c and d]. A couple of days later, the patient's vision further deteriorated in both eyes (0.3 OD and count finger at one-meter OS) due to extensive involvement of macula with sub-ILM hemorrhages OD and moderately dense dispersed vitreous hemorrhage OS. However, other systemic and ocular causes of vitreous hemorrhage were excluded, for example, diabetic retinopathy, hypertensive retinopathy, central retinal vein occlusion, and Valsalva retinopathy. The patient was followed up at interval of 6, 12, and 16 weeks of post-HSCT and substantially blood cell count normalized (WBC: 3.3 109/L; platelets: 155 109/L, RBC: 4.4 1012/L and Hb: 13.3 g/dL}) and simultaneously, retinal hemorrhages commenced to resolve spontaneously. At subsequent visit after 6 weeks, the retinal and sub-ILM hemorrhages in OD resolved significantly as well as vitreous hemorrhage OS density decreased and vision in OD improved to 0.67 and OS 0.2 [Figure 2a–d]. Over a cumulative period of 16 weeks, BCVA was 1.0 OD and 0.5 OS, retinal hemorrhages almost completely resolved in both eyes with residual resolving vitreous hemorrhage OS [Figure 3a–d], likely to resolve.

Figure 1

(a-d) At presentation, bilateral multiple, dense retinal, and subinternal limiting membrane hemorrhages involving the macula associated with Rothfs spot

Figure 2

(a-d) After 6 weeks, residual retinal and subinternal limiting membrane hemorrhages in both eyes and vitreous hemorrhage OS

Figure 3

(a-d) After 16 weeks, retinal hemorrhages almost completely resolved in both eyes with residual resolving vitreous hemorrhage OS

The treatment of aplastic anemia retinopathy is individualized according to the severity and overall health status quo. Other treatment options include neodymium-doped yttrium–aluminum–garnet laser hyaloidotomy/membranotomy for preretinal macular subhyaloid or sub-ILM hemorrhages to drainage into the vitreous cavity,[4] pars plana vitrectomy, pan-retinal or sector laser photocoagulation, and intravitreal anti-vascular endothelial growth factor;[5] however, the underlying primary pathology must be addressed promptly.

The patient was counseled and prudently monitored the retinopathy progression with the collaboration of clinical hematology service and substantially sub-ILM and retinal hemorrhages resolved spontaneously and achieved good vision.

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Conflicts of interest

There are no conflicts of interest.