|Year : 2021 | Volume
| Issue : 2 | Page : 120-123
A study of the spectrum of ocular manifestations in patients with thalassemia
Reshma Ramakrishnan, Mamta Agrawal, Priyanka Gandhi, Ayushi Choudhary, Alex Jesmin, Ankita Choudhary
Department of Ophthalmology, MGM Medical College and Hospital, MGM Institute of Medical Sciences (Deemed to be University), Navi Mumbai, Maharashtra, India
|Date of Submission||10-Mar-2021|
|Date of Acceptance||26-Apr-2021|
|Date of Web Publication||02-Jun-2021|
Dr. Mamta Agrawal
Department of Ophthalmology, MGM Medical College and Hospital, MGM Institute of Medical Sciences (Deemed to be University), Navi Mumbai 410209, Maharashtra.
Source of Support: None, Conflict of Interest: None
Background: Thalassemia is a globally prevalent genetic disorder. Patients with thalassemia are prone to develop systemic and ocular adverse effects such as myocardial iron loading, heart failure, decreased visual acuity, color vision abnormalities, contrast sensitivity changes, ocular surface disease, lens opacities, etc. Fundus abnormalities such as retinal pigment epithelium degeneration, arteriovenous (AV) tortuosity, etc. may be seen. Patients with the long-standing disease are at risk of developing ocular adverse effects that demand baseline ophthalmic evaluation and regular monitoring. Context: Need for a regular ophthalmic checkup in patients with thalassemia. Aim: To determine the prevalence of ocular manifestations in patients with thalassemia. Settings and Design: A cross-sectional study was conducted by recruiting patients with thalassemia after obtaining ethical approval from the institute and informed consent from the parents. Materials and Methods: Fifty patients with thalassemia underwent a detailed ophthalmic evaluation, and the findings were recorded. The Statistical Package AQ6 for the Social Sciences software was used for statistical analysis. Results: Ocular involvement was seen in 37 patients (74%). We observed that 20% of the patients had decreased visual acuity, 38% of the patients had mild dry eye disease, and 14% of the patients had AV tortuosity. Conclusion: Ocular changes in patients with thalassemia occur over a long period. Adverse effects such as ocular surface diseases, lens opacities, increased cup disc ratio, retinal pigment epithelium degeneration, etc. may progress and cause visual impairment at a later stage. It is important to create awareness in these patients to prevent long-term side effects and maintain optimum visual health.
Keywords: Arteriovenous tortuosity, dry eye, thalassemia
|How to cite this article:|
Ramakrishnan R, Agrawal M, Gandhi P, Choudhary A, Jesmin A, Choudhary A. A study of the spectrum of ocular manifestations in patients with thalassemia. MGM J Med Sci 2021;8:120-3
|How to cite this URL:|
Ramakrishnan R, Agrawal M, Gandhi P, Choudhary A, Jesmin A, Choudhary A. A study of the spectrum of ocular manifestations in patients with thalassemia. MGM J Med Sci [serial online] 2021 [cited 2021 Sep 20];8:120-3. Available from: http://www.mgmjms.com/text.asp?2021/8/2/120/317443
| Introduction|| |
Beta thalassemia is a severe genetic blood disorder that is caused by a mutation in the hemoglobin subunit beta (HBB) gene encoding for the beta chains of hemoglobin. The prevalence of thalassemia globally is about 4.4/10,000 live births and in India every year 10,000 children suffer from thalassemia, which approximately accounts for 10% of the total world incidence of thalassemia; the mean age is 10 years with a slight male preponderance. Thalassemia is inherited by offspring through the transmission of mutated hemoglobin genes from their parents. Therefore, children with a family history of thalassemia are at an increased risk of developing thalassemia.
Patients with thalassemia are prone to develop adverse effects, which include myocardial iron loading, heart failure, and splenic involvement systemically. Ocular involvement is quite common and may manifest as decreased visual acuity, color vision abnormalities, contrast sensitivity changes, ocular surface disease, lens opacities, etc. Fundus abnormalities such as retinal pigment epithelium degeneration, mottling, pseudoxanthoma elasticum (PXE), AV tortuosity, angioid streaks, optic disc drusen, etc. may be seen. These changes intensify with the duration and severity of the disease.
Therefore, patients with long-standing disease are at a risk of developing ocular adverse effects that demand baseline ophthalmic evaluation and regular monitoring.
Aims and objectives
- To determine the prevalence of ocular manifestations in patients with thalassemia.
- To study the prevalence of various ocular manifestations in patients with thalassemia.
| Subjects and methods|| |
A cross-sectional study was conducted among 50 patients with thalassemia after obtaining ethical approval from the institute and informed consent from the parents for one month. Fifty thalassemia patients who tested positive for hemoglobin electrophoresis between 4 and 18 years of age and presented to the paediatric outpatient department were included in this study. Patients with a history of any other blood disorder, congenital ocular anomalies, and unwillingness to follow study instructions were excluded. A detailed history, including birth history, family history, and treatment history, was obtained from the parents. A systemic examination was done by the pediatrician. The ophthalmic examination included a visual acuity test for distant and near vision, color vision, contrast sensitivity, Schirmer’s test, intraocular pressure, detailed anterior segment, and posterior segment examination using the following materials: Snellen’s chart, Ishihara’s plates, Pelli Robson charts, Whatman’s strip, Perkin’s tonometer, Appasamy Slit lamp, Ophthalmoscope (Direct and Indirect), Lenses (20D, 90D), ZEISS fundus camera, and dilating and anesthetic drops. A fundus photograph was taken for all the patients. The findings were recorded and documented. Statistical Package AQ6 for the Social Sciences software for statistical analysis was used.
| Results|| |
In this study, 50 patients were examined. The study group included 24 males (52%) and 26 females (48%) [Figure 1] of varying ages from four years up to 18 years who were diagnosed with thalassemia disorder and were undergoing treatment. There were 8 patients aged between 4 and 8 years, 27 patients between 9 and 13 years, and 15 patients between 14 and 18 years [Figure 2].
|Figure 2: Distribution of study population according to the age interval (in years)|
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A detailed history revealed the presence of thalassemia in a family of 10 patients (20%): Among these, two were a pair of twin sisters, two had inherited it from their father, and four had siblings who carried the trait.
On visual acuity testing for distant vision with Snellen’s chart, two patients had 6/9 vision in both eyes, two patients had 6/9 vision in the right eye, and six patients had 6/9 vision in the left eye. Hence, a total number of 10 patients (20%) had decreased distant vision (6/9). All patients had normal near vision (N.6), normal color vision (17/17plates), and normal contrast sensitivity (less than 2.178).
Schirmer’s test I and II results ranged from 12 mm to 20 mm. Schirmer’s test I result of all patients was above 15 mm. Schirmer’s test II result of 10 patients was 12 mm, of nine patients was 14 mm, and of the rest was above 16 mm. Nineteen patients (38%) had a mild dry eye disease.
The anterior segment examination of all patients was normal. The posterior segment examination revealed fundus abnormalities in seven patients (14%). Seven patients showed AV tortuosity; among these, four were males and three were females [Figure 3]. The tortuosity was seen in patients aged older than seven years of age, with predominance at 13 years of age. These patients were on treatment of a varying duration from three months up to four years. A tessellated fundus was observed in a patient aged five years who was on transfusion for one year. However, the remaining patients did not show any fundus abnormality. Fundus abnormalities such as increased cup/disc ratio, vitreoretinal hemorrhage, and retinal microvascular abnormalities were not seen. A graph showing all the ocular findings of our study is depicted in [Figure 4].
|Figure 4: Distribution of study population according to the ocular findings|
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| Discussion|| |
Thalassemia, a group of inherited hematological disorders, is caused by a defect in the synthesis of the hemoglobin chains. Alpha thalassemia is caused due to defective alpha-globin chain synthesis, and beta thalassemia is caused due to defective beta-globin chain synthesis. The imbalance of globin chains causes hemolysis and impaired erythropoiesis. Beta thalassemia causes hemolytic anemia, poor growth, skeletal abnormalities, organ involvement such as heart failure, liver and spleen changes, ocular involvement such as decreased visual acuity, color vision abnormalities, dry eye disease, lens opacity, fundus abnormalities, etc. Patients with thalassemia are in an iron overload state since they are dependent on lifelong blood transfusion. Iron toxicity causes decreased visual acuity and retinopathy changes.
No or minimal ocular and systemic adverse effects may be seen in patients with mild thalassemia. There is a greater possibility of long-term survival in patients with moderate or severe thalassemia who take regular treatments in the form of iron chelators and blood transfusions. Multimodal imaging associated with clinical evaluation provides an absolute description of the alterations in microvascular and structural components. Taneja et al. conducted a cross-sectional study and observed that thalassemia was predominantly seen in the male population, with a male:female ratio of 2:1. In our study also, we found that thalassemia was more prevalent in males (52%).
Another study by Taneja et al. stated that 36 patients (80%) were diagnosed with beta thalassemia within the first year of life, of whom 21 (58%) were diagnosed within six months of life, four patients (9%) between one and two years of age, two (4%) patients between two and three years of age, and three (7%) patients after three years of age. There is a direct relationship between the time at which thalassemia manifests and the age at which it is diagnosed. In our study, ocular involvement was seen in patients of varying ages, who were diagnosed from one year up to seven years of age.
Taneja et al. conducted a study in which 80% of the patients were diagnosed within the first year of life. Gaba et al. conducted a study in which 55% of the patients were diagnosed during the first year of life. Diagnostic facilities and mass media coverage aids in early diagnosis and helps in spreading awareness about the disease. Dewan et al. reported that 36% of patients had ocular manifestations, and the study by Gartagantis et al. reported that 41.3% of patients had ocular involvement, which included decreased distant and near vision, color vision abnormalities, visual field defects, fundus abnormalities such as increased cup/disc ratio, retinal vessel tortuosity, A–V crossing changes, vitreoretinal hemorrhage, and retinal microvascular abnormalities.,
Nowroozzadeh et al. conducted a case-controlled study among 47 adult patients and found that against the rule astigmatism was more prevalent among patients with thalassemia. Jafari et al. conducted a cross-sectional study among 54 patients and found no significant difference between spherical equivalent for uncorrected visual acuity in patients with thalassemia and healthy subjects. A visual acuity of 6/6 was achieved by the use of the corrective lens. In our study, all patients were corrected with appropriate lenses and 6/6 visual acuity was achieved.
In our study, ocular involvement was seen in 37 patients (74%); among these, 25 were males and 11 were females. We observed that 20% of patients had decreased visual acuity, 38% of patients had mild dry eye disease, and 14% of patients had AV tortuosity. There was no evidence of any color vision abnormality, visual field defect, vitreoretinal hemorrhage, and retinal microvascular abnormalities.
All patients in this study were on treatment (blood transfusion and iron chelators) of varying duration. Ocular involvement was seen in 36 patients, the majority of whom were on treatment for six months to one year. However, we have not taken the role of the treatment in ocular pathology into account. Ocular changes in patients with thalassemia occur over a long period. Adverse effects like ocular surface diseases, lens opacities, increased cup/disc ratio, retinal pigment epithelium (RPE) degeneration may progress and cause visual impairment at a later stage. It is important to create awareness in these patients to prevent long-term side effects and maintain optimum visual health. Therefore, periodic monitoring and regular follow-up in these patients are of immense value.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
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[Figure 1], [Figure 2], [Figure 3], [Figure 4]