Retinal detachment associated with thalassemia major and Marfan's syndrome-A case report

Abstract

The thalassaemias, unlike a few other disorders of the haemopoietic system, are very rarely accompanied by ophthalmological changed. Marfan's Syndrome, on the other hand, exhibits a number of ocular manifestations. This article describes a case of uniocular retinal detachment associated with both these conditions.

Case report

The patient a ten-year-old girl with disproportion­ately long thin limbs and fingers, had attended the outpatients department at NRS Medical College and Hospital, Calcutta. She complained of blurring of vision in both her eyes (more in the right eye than in the left) over a period of one year. She also mentioned that she suffered from occasional episodes of bleeding from the gums and pain in her left upper abdomen, She gave no history of having received any treatment or blood trans­fusions before.

The patient was tall for her age and possessed extremeties that were dolichostenomelic, with arachnodactyly. The ratio of the upper to the lower segment of her body was0.82. The metacarpal and phalangeal indices were 8.65 and 6.20 respectively. Flatfeet deformity and lax ankle joints were pre­sent Osteoporotic changes with flattening and erosion of the vertebrae were demonstrated radiographically in the lower thoracic and lumbar regions Radiographs of the skull and chest were normal.

A moderate degree of pallor was noted. There was no evidence of jaundice. Frank bleeding from the gums, crowding of teeth and a high arched palate were present The spleen was enlarged 9 cm below the left costal margin in the left midclavi­cular line and felt firm on palpation. The liver was not palpable There was no lymphadenopathy Clinical, radiological and electrocardiographic tests showed a normallyfunctioning cardiovas­cular system.

Examination of the eyes revealed normally-react­ing pupils which, however, resisted dilatation with all available mydriatics The lenses were dislocated in a downward and inward direction resulting in iridodonesis and phacodonesis The vitreous could not be studied in detail owing to the small pupils Neverthless no marked changes were seen. There was a total retinal detachment in the right eye without any detectable hole or tear. The fundus of the left eye was normal. No mesoder­mal abnormality of the anterior chamber angle was observed on gonioscopy. The intraocular pressures were normal - 12.2 and 17.3 mm of Hg (Schiotz tonometry) in the right and left eyes respectively. While vision in her right eye was reduced to perception of hand movements, she counted fingers at 0.75 m with her left eye The visual acuity failed to improve with glasses or a pin hole aperture.

The haematological investigations proved most interesting. The haemoglobin level was estimated to be 9.57 g/100 ml (9.57 g/dl) of blood (66%). Foetal haemoglobin comprised 41.7% of the total. Study of the red blood cells (Figure 1) showed the presence of reticulocytosis (15%), microcytes, target cells, normoblasts, hypochromia, poikilo­cytosis and anisocytosis The total leucocyte count was 7,400 per cubic mm (7.4 x 10 ⁹/1) of blood of which 58% (4.29 x 10 ⁹/1) were, neutro­phils, 30% (2.22 x 10 ⁹/ 1) lymphocytes, 8% (0.59 x 10 ⁹/1) eosinophil granulocytes and 4% (0.29 x 10 ⁹/1) monocytes Platelets numbered 3,20,000 per cubic mm (320 x 10 ⁹/1) of blood The ESR was 47 mm/ at the end of first hour (Westergren). The sickling test was negative.

Other investigations such as Van den Bergh's test and the estimation of Serum bilirubin, GOT (AST), GPT (ALT) and post-prandial blood sugar gave normal results.

Serum protein electrophoresis showed a marginal reduction in albumin level and slightly raised acute phase proteins The a _l globulin fraction was normal in armount The /3 ₁gloublin fraction was almost normal but _I2 bloublin was decreased in proportion. Gamma globulins exhibited a pro­nounced increase in quantity.

Electrophoresis of haemoglobin showed a single band comprising Hb F. Traces of HB A ₂ were probably present but no quantitative estimates could be made. No other haemoglobin compon­ent could be identified

Biochemical examination of the urine (for evidence of homocystinuria) yielded negative results Rout­ine urine analysis provided no findings of any interest.

Results of the Mantoux test and the Wasserman reaction were negative. The patient had lost her father in her childhood. Her mother, who was living, had no significant ocular changes However, amongst her three brothers and a sister (Figure 2), all except one brother and the sister were found to have subluxation of lenses, glial tissue in the vitreous and over the retina, as well as retinal detachment without breaks Thalassaemia was detected in all siblings and their mother by haema­tological investigations.

Discussion

The paucity of information regarding ocular complications in the thalassemia syndromes is striking. Central retinal vein thrombosis and grade two hypertensive retinopathy are recorded to have been present in two separate cases of thalassae­mia . Only one case of retinal detachment without break/s in association with thalassaemia has been reported (Rudd et al). A case of thalassaemia with retinal haemorrhages leading to vitreo- retinal degeneration has also been described. On the other hand, retinal detachment is a well-known complication of Marfan's syndrome. However, the occurrence of retinal detachment accom­panied by both /3-thalassaemia and Marfan's syndrome in the same patient (which makes it impossible to ascertain the cause of the detach­ment) is perhaps unknown. At present it is difficult to correlate the two components of this intriguing association, but since both are inherited disorders of connective tissue, further work may someday unearth the possible missing link.

Summary

A ten-year-old female patient attending the ophthalmology section of the outpatients' depart­ment of Nil Ratan Sircar Medical College and Hospital, Calcutta, was found to have uniocular retinal detachment while at the same time having most of the clinical features of both J3-thalassaemia and Marfan's syndrome. Investigations revealed evidences of both conditions (as well as retinal changes) in some of her family members also. Efforts to find one common basis for explaining both the connective tissue disorders were, how ever, unrewarding. The peculiar association, nevertheless, has made reporting of the case worthwhile.

Acknowledgements

The help and co-operation of the following are gratefully acknowledged

1. Dr. M Rakshit 

Head of the Haematology Unit Department of Medicine, N R S Medical College and Hospital, Calcutta.

2. Superintendent

N R S Medical College and Hospital, Calcutta.

References

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4.	Kahan A, Kahan IL, Benko A Erythrocytic Anomalies in Hereditary Vitreo-Retinal degene­ration (Degeneratio Hyaloideoretinalis). Br. J. Ophthalmol 1963; 47: 620.
5.	Cross HE, Jensen AD. Ocular manifestations in the Marfan syndrome and Homocystinuria. Am. J. Ophthalmol 1973; 75: 405.
6.	Allen RA Straatsma MH, Apt L, Hall MO. Ocular manifestations of the Marfa syndrome. Trans Am Acad Ophthalmol Otolaryngol 1967; 71:18.
7.	Hudson JR. Marfan's syndrome with Retinal Detachment Br J Ophthalmol 1951; 35: 244.

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