1.Ocular Symptom Can Be the First Presentation of Differentiation Syn-drome in Acute Promyelocytic Leu-kemia
Korean Journal of Ophthalmology 2021;35(1):94-96
Dear Editor, Acute promyelocytic leukemia (APL) is a subtype of acute myelocytic leukemia, characterized by the chromosomal abnormality t(15:17) coding a PML/RAR alpha fusion protein that affects differentiation of the promyelocyte cell in bone marrow. All-trans retinoic acid (ATRA), a key treatment for APL, acts as a differentiating agent in combination with other induction chemotherapy. Differentiation syndrome (DS) is a complication in APL patients undergoing induction chemotherapy with ATRA or arsenic trioxide [1]. The pathophysiology of DS is not understood precisely; however, it appears to be associated with a large pool of leukemic blasts, massive tissue infiltration of cells, cytokine increase, and systemic capillary leak syndrome, clinically presenting as dyspnea, fever, peripheral edema, weight gain, pleural, pericardial effusion, and acute kidney injury [2,3]. We present the case of a 66-year-old woman experiencing visual discomfort after starting ATRA treatment. This case highlights that visual symptoms can arise earlier than other well-known life-threatening symptoms of DS. A 66-year-old female patient presented with a fourmonth history of headaches, nausea, and vomiting. Blood tests revealed pancytopenia, and bone marrow examination confirmed PML/RARA gene positive. She was diag-nosed with APL for the first time and was admitted to the Department of Hematology and Medical Oncology at Ewha Womans University Mokdong Hospital for induction chemotherapy, where she received cytarabine, idarubicin, and ATRA as her induction chemotherapy treatment. Five days after ATRA treatment, she was referred for visualdimness and peripheral blurred vision. Her medical history included hypertension and branched retinal vein occlusion in her left eye, which had been treated with intravitreal injections three times two years prior. Her corrected visual acuity was 20 / 40 in the right eye and 20 / 32 in the left eye. Anterior segment finding was normal except for mild nuclear sclerosis in both eyes. Funduscopic examination revealed multiple retinal hemorrhages on the posterior pole in both eyes and Roth’s spot appearance in the left eye. Spectral-domain optical coherence tomography showed subretinal fluid (SRF) in the macula area of the right eye (Fig. 1A). Two days after ocular symptoms appeared, systemic DS symptoms, such as fever, weight gain, and dyspnea appeared, and pulmonary edema was evident in her chest x-ray. As a DS treatment protocol, intravenous dexamethasone was administered for 12 days. Two weeks later after the diagnosis of DS, SRF in macula became more aggravated, with involvement of the fellow eye, while ocular symptoms persisted. Twenty days after DS diagnosis, bilateral serous retinal detachment (SRD) was observed.However, fluorescein angiography showed no significant abnormality, with the exception of a previous branch retinal vein occlusion lesion in her left eye (Fig. 1B); the anterior segment was not remarkable. Her symptoms continued for about 1 month under ATRA treatment and slowly regressed with visual recovery in parallel with discontinuing ATRA (Fig. 1C). Two days after discontinuing ATRA, minimal SRF remained on her right eye. Two weeks later, her corrected visual acuity was 20 / 20 in the right eye and 20 / 25 in the left eye. She achieved complete remission of SRD with improvement in visual symptoms (Fig. 1D). We report the case of DS with ocular manifestation as a first symptom. Ocular manifestation of DS has been reported several times in previous case reports, involving retinal hemorrhage, SRD with intraretinal fluid, choroidal effusion, pseudotumor cerebri, and optic disc edema [2,4,5]. SRD can also appear in ocular infection, inflammatory disease, retinal vascular disease, malignancy, and leukemic retinopathy. Therefore, differential diagnosis should be considered. However, in this patient, the ocular symptom had developed after using the differentiating agent, ATRA. Systemic symptom appeared later. Anterior segments and fluorescein angiography findings were unre-markable to consider other differential diagnoses. After ceasing ATRA, bilateral SRD on optical coherence tomography was regressed, and the patient’s symptom was also relieved.In conclusion, patients receiving ATRA treatment may first present with acute visual symptoms, followed by life-threatening complications such as fever, dyspnea, peripheral edema, and weight gain. Thus, careful observation of ocular symptoms in APL patients is of the utmost importance if the patient is undergoing ATRA treatment.
2.RUNX1 Germline Mutation in a Patient with Chronic Thrombocytopenia
Yujin NAM ; Gyu Min YEON ; Seom Gim KONG
Clinical Pediatric Hematology-Oncology 2021;28(2):89-92
One of the pathophysiologic mechanism of inherited thrombocytopenia is a defect in transcription factors that regulate the expression of multiple genes required for megakaryopoiesis. Runt-related transcription factor 1 (RUNX1) binds to its heterodimeric partner, core binding factor beta (CBFβ), and forms a core binding factor that regulates the expression of various target genes. The association between RUNX1 germline mutations and familial platelet disorder with associated myeloid malignancy was first reported in 1999. Although this disease has various phenotypes and penetration, the most common symptom is a bleeding tendency due to thrombocytopenia and platelet dysfunction. Myelodysplastic syndromes or acute myeloid leukemia may also develop in 35-40% of cases. We identified a heterozygous mutation in the RUNX1 gene using diagnostic exome sequencing in an adolescent with chronic thrombocytopenia.The patient will be followed continuously for hematologic malignancies that may develop in the future. This case illustrates the importance of diagnosing inherited thrombocytopenia to provide adequate follow-up for hematologic malignancies and reduce unnecessary treatment.
4.Agreement between Scheimpflug Camera and the Swept-source Optical Coherence Tomography Measurements in Keratometry and Higher-order Aberrations
Yujin GIM ; Roo Min JUN ; Kyung Eun HAN
Korean Journal of Ophthalmology 2021;35(5):337-348
Purpose:
To evaluate the compatibility of corneal curvature and astigmatism, and higher-order aberrations (HOAs) measured by the Scheimpflug camera Pentacam HR and the swept-source optical coherence tomography ANTERION.
Methods:
This prospective study included normal subjects with no ophthalmic history. Steep keratometry (K), flat K, astigmatism and its axis of the anterior and posterior surfaces, total corneal power, and HOAs using the two instruments were compared. To compare the mean values of the measurements, a paired t-test was used. Bland-Altman analysis was applied to assess the agreement between the two devices.
Results:
Fifty-three eyes of 53 subjects were evaluated. There were statistically significant differences for steep K, astigmatism, and vector J0, J45 in the anterior surface and total corneal power between the two devices (p < 0.05). There were also significant differences in the most of the keratometric values of the posterior corneal surface (p < 0.05) except J0 (p = 0.410). Both devices showed strong positive correlations in steep K, flat K, astigmatism (r > 0.81, p < 0.001) with wide ranges of a 95% limit of agreement. Vectoral components were significantly correlated (r > 0.78, p < 0.001) with narrow 95% limit of agreement, except J45 of the posterior surface (r = 0.39, p = 0.004). In the corneal HOAs, there were statistically significant differences in the vertical coma, horizontal trefoil, spherical aberration, and root mean square of each fifth- and sixth-order Zernike coefficient (p = 0.043, p = 0.041, p < 0.001, p < 0.001, and p < 0.001, respectively). Other HOAs showed moderate to strong positive correlations (r > 0.37, p < 0.05). Most HOAs, except for the horizontal trefoil, showed clinically acceptable agreements. The total root mean square of HOAs was not significantly different between the two devices (p = 0.122).
Conclusions
Most of the keratometric values cannot be used interchangeably. However, the vectoral component of astigmatism showed clinically good agreement. Several HOAs have statistically significant differences; however, almost all HOAs showed acceptable agreements, except for the horizontal trefoil.
5.Agreement between Scheimpflug Camera and the Swept-source Optical Coherence Tomography Measurements in Keratometry and Higher-order Aberrations
Yujin GIM ; Roo Min JUN ; Kyung Eun HAN
Korean Journal of Ophthalmology 2021;35(5):337-348
Purpose:
To evaluate the compatibility of corneal curvature and astigmatism, and higher-order aberrations (HOAs) measured by the Scheimpflug camera Pentacam HR and the swept-source optical coherence tomography ANTERION.
Methods:
This prospective study included normal subjects with no ophthalmic history. Steep keratometry (K), flat K, astigmatism and its axis of the anterior and posterior surfaces, total corneal power, and HOAs using the two instruments were compared. To compare the mean values of the measurements, a paired t-test was used. Bland-Altman analysis was applied to assess the agreement between the two devices.
Results:
Fifty-three eyes of 53 subjects were evaluated. There were statistically significant differences for steep K, astigmatism, and vector J0, J45 in the anterior surface and total corneal power between the two devices (p < 0.05). There were also significant differences in the most of the keratometric values of the posterior corneal surface (p < 0.05) except J0 (p = 0.410). Both devices showed strong positive correlations in steep K, flat K, astigmatism (r > 0.81, p < 0.001) with wide ranges of a 95% limit of agreement. Vectoral components were significantly correlated (r > 0.78, p < 0.001) with narrow 95% limit of agreement, except J45 of the posterior surface (r = 0.39, p = 0.004). In the corneal HOAs, there were statistically significant differences in the vertical coma, horizontal trefoil, spherical aberration, and root mean square of each fifth- and sixth-order Zernike coefficient (p = 0.043, p = 0.041, p < 0.001, p < 0.001, and p < 0.001, respectively). Other HOAs showed moderate to strong positive correlations (r > 0.37, p < 0.05). Most HOAs, except for the horizontal trefoil, showed clinically acceptable agreements. The total root mean square of HOAs was not significantly different between the two devices (p = 0.122).
Conclusions
Most of the keratometric values cannot be used interchangeably. However, the vectoral component of astigmatism showed clinically good agreement. Several HOAs have statistically significant differences; however, almost all HOAs showed acceptable agreements, except for the horizontal trefoil.