Indian Journal of Ophthalmology

ARTICLES
Year
: 1985  |  Volume : 33  |  Issue : 2  |  Page : 83--88

A study on ocular manifestations of sickle haemoglobinopathies


Gunasagar Das, UC Behera, BC Kar 
 Deptt. of Ophthalmology and Medicine, V.S.S. Medical College & Hospital, Burla, India

Correspondence Address:
Gunasagar Das
Deptt. of Ophthalmology and Medicine, V.S.S. Medical College & Hospital, Burla
India




How to cite this article:
Das G, Behera U C, Kar B C. A study on ocular manifestations of sickle haemoglobinopathies.Indian J Ophthalmol 1985;33:83-88


How to cite this URL:
Das G, Behera U C, Kar B C. A study on ocular manifestations of sickle haemoglobinopathies. Indian J Ophthalmol [serial online] 1985 [cited 2019 Nov 15 ];33:83-88
Available from: http://www.ijo.in/text.asp?1985/33/2/83/30826


Full Text

Long after the discovery of sickle shaped erythrocytes in a severely anaemic negro patient in 1910 by Herrick, the sickle cell disorder was reported in certain hill tribes of Southern India[1]. Subsequently. cases have been reported from other parts of the country. Ocular involvement in this disorder was first noted by Cook[2]. However, eye, involvement in this disease has not been studied much in India except in a recent report from Nagpur[3] Ocular changes, resulting from intravascular sickling leading to sluggish blood flow, occlusion of blood vessels and ischaemia, manifested in the conjunctiva, uvea, vitreous and retina. The changes are however, extremely variable depending upon the type of inheritance e.g. homozygous or heterozygous, and the associated presence of other haemoglobins.

 MATERIALS AND METHODS



Patients admitted to the Medical, Paedia­tric and Ophthalmic wards from July `80 to September `81 were screened by Sickling Test. 74 sickle positive cases were taken up for study. The cases were subjected to thorough systemic examination and pathological investigations to exclude any other associa­ted disorders. The haemoglobin pattern was determined by Agar-gel electrophoresis in sodium citrate buffer at p H 6.2 and foetal haemoglobin was estimated by alkaline denaturation test. Detailed ocular examina­tion was done including visual acuity, colour vision, field charting, I.O.P. record, slit lamp bio-microscopy, funduscopy and fluorescein angiography in selected cases.

 OBSERVATIONS



(1) Age, Sex and Caste distribution

Out of the 74 sickle positive patients, 49 cases (66.21%) were below 30 years of age, the youngest was of two years. There was no case of sickle cell anaemia after 40 years. 57 patients were male and the rest 17 were of the other sex. The caste distribution was Harijan (33.76%), Kulita and Chasa (24.32%), Teli (10.81%), Goud (9.45), Agharia (6.75%) and others (14.86%).

(2) Haemoglobin pattern :­

On haemoglobin electrophoresis, 45 patients had AS; 21 had SS (Sickle cell anaemia) and 8 had ASF pattern. The latter group was considered as Sickle cell trait (SCT), as no haemoglobin -A 2 cwas found in any case to suggest sickle ell thalassaemia. 1Their mean foetal haemo­globin as estimated was 14.5%. There was no other abnormal haemoglobin found in this study. Out of the 21 cases of sickle cell anemia, 12 were in the steady state, where as the rest 9 were hospitalised as sickle cell crisis.

(3) Ocular Incidence :­

100% of sickle cell anaemia, 64.15% of sickle cell trait and 74.32% of sickle cell disorder (S + ve cases) had some ocular changes or other. 57.14% of the SCA cases having ocular changes were in the steady state.

(4) Symptomatology :­

54 cases (72.97%) had no ocular com­plaints. The ocular symptoms of the other cases were diminished vision (14 cases­18.91%), and eye strain, colour blindness, night blindness, lacrimation, ophthalmoplegia in one case each.

(5) Incidence of ocular changes in relation to sex :­

41 males (71.93%) and 14 females (82.35%) had some ocular changes or other.

(6) Visual defect :­

Vision could not be recorded accurately in 5 patients (SCA -2 cases, SCT-3 cases) as the patients were too young. In the rest of the patients 6 cases (31.57%) of SCA, 25 cases (50%) of SCT and 31 cases (44.92%) of S+ve cases had defective vision.

(7) Ocular manifestations :­

Ocular manifestations were mostly bilate­ral except in a few cases.

(8) Incidence of ocular changes in relation to age :­

23 (67.64%) SCT, 20 (95.22%) SCA and 43 (78.18%) S + ve cases having ocular changes were within the third decade of life, the highest incidence in all categories being in the 2nd decade. There was no case of sickle cell anaemia after 40 years.

(9) Incidence of ocular chages in relation to the degree of anaemia :­

20 (58.820%) SCT, 19 (90.47%) SCA and 39 (70.9%) S+ve cases with ocular changes had moderate or severe anaemia (within 10 gm % of haemoglobin). None of the SCA cases had more than 11.8 gm. % of haemo­globin.

 DISCUSSION



Sickle cell haemoglobinopathy is a com­mon disorder of this area. Irrespective of any ocular complaints, a search was made for ocular changes amongst the 74 sickle positive patients. None of the ocular symptoms were specific to this disorder.

All the patients except one SCT case, who had been admitted for vision defect and was found to have choroiditis and macular oedema in right eye, were hospitalised for various medical complaints.

Females (82.35%) were more affected than males. Goldberg et al[4], and Condon et al[6] had also observed such sex predilection in their cases.

31.57% of SCA and 50% of SCT cases had diminished vision out of the recorded 69 cases. The visual defect in SCT cases could not be fully attributed to this disorder, as those cases were also associated with other disorders like diabetes mellitus, hyper­tension, cataract, uveitis, refractive error and advanced age. But in SCA cases there was no cause other than Hb-S.

100% of SCA, 64.15% of SCT and 74.32% of S+ve cases had some ocular changes or other. Condon et al[5] had found eye changes in 93.4% of SCA cases, where as Rubinstein' and Michelson[8] are of the opinion that SCT cases, once considered a benign condition, may be the cause of systemic as will as ocular catastrophe under various stress and anoxaemic conditions.

12 cases (57.14%) of SCA having ocular changes were in the steady state and rest were in crisis in this study. But, Nagpal et al[9] have observed that the different states of the disease does not seem to have any relationship either with the presence or the degree of fundus pathology :­

Sickle cell trait :­

The sickle cell trait cases had pallor (56.6%), icterus (26.41%), and vascular changes (15.09%) in the conjunctiva. One patient had keratitis, another had uveitis, and six cases (11.32%) had cataractous changes in the lens.

In the retina, disc pallor (11.32%), dull foveal reflex (13.2°./0), haemorrhages (7.52%), oedema (11.32), mottling (5.66%) and neo­vascularisation, exudates and micro­aneurysms in the macula were observed. Major retinal vessel changes (24.52%), haemorrhages (3.77) and neovascularisation (1.88%) in the retinal periphery, choroiditis (1.88%) were also observed in few cases. All the cases showing the above changes were also associated with a systemic disorder like diabetes mellitus, hypertension, tuberculo­sis, cirrhosis of liver, malnutrition, anaemia, lymphatic lymphoma, advanced age etc. So the changes could not be fully attributed to Hb-S.

Sickle cell anaemia :­

On the other hand, a sickle cell anaemia case had bilateral ptosis with external oph­thalmoplegia. She had also aseptic necrosis of femoral head. Myasthenia gravis was excluded by prostigmin test. Due to its acute onset, the vaso-occlusion by sickled erythrocytes might be they underlying cause.

Pallor (100%), icterus (33.33%) and vascular changes (90.47%) were observed in the conjunctiva. The vascular changes were of grade I and consisted of comma shaped or cork screw shaped or abnormally long, linear dilatations of vessels still connected to the vascular network with sludged flow, mostly observed in the bulbar conjunctiva covered by lids. Kate et a1[3] and Condon et al[6] (97.4% in Hb-SS cases) have observed such changes in various degree in sickle cell anemia and sickle cell Hb-C disease other than sickle cell trait.

In the retina, disc pallor and papilloede­matous changes was found in one case each. Dull foveal reflex (28.56%), vascular changes (28.56%), haemorrhages (19.04%), oedema (9.52%), mottling (4.76%), neo-vascularisa­tion (9,52%) and micro-aneurysmal dots (28.57%), all in the macula, were also observed. The vascular changes in the macula were in the form of micro-anaeurysmal dots, dark and enlarged fragments of terminal arterioles and highly tortuous capillaries. Asdourian and associates[11] demonstrated abnormalities in and perimacular vascula­ture in approximately 20%, of their patients.

Significant changes were observed in major retinal vessels (42.85%) and peripheral vessels (90.47%) in SCA cases. The major retinal vessels were dilated, full and tortuous, the veins being more tortuous than arteries. In some cases, the arteries were pale and narrow. The peripheral vessels were tortuous and sometimes occluded, but in a few cases, the arterioles were chalky white in colour, associated with perivascular sheathing, occlusion and tortuosity. Similar findings have been documented by Condon[6] who found peripheral vessel disease 93.4% and major retinal vessel changes in 10.5% of Hb. SS cases; whereas Kate et a1[3] have found venous fullness and venous tortuosity_ in 18% and 24% of their series.

Two (9.52%) of the SCA cases had irides­cent glistening deposits in this study where as Condon[6] had observed it in 13.2% of his cases. These were oval or triangular shaped coppery coloured deposits distributed along the equatorial zone of the periphery.

Haemorrhage (14.28%) and neovasculari­sation (38.09%) were also observed in the peripheral retina. Condon[6] had noted retinal haemorrhage (2.6%) and tortuosity and dilatations of capillary network with micro-aneurysmal formation and neovascula­risation (39.5%) in the Hb-SS cases of his study, but Kate et al[3] did not get any case of retinal haemorrhage in their series (instead they had observed vitreous haemorrhage in one case).

Majority of cases with ocular involve­ment in all categories of haemoglobinopathies were within the third decades of life although highest incidence occurred in the second decade as observed in this study. Goldberg et al[4] had observed the mean age for the ocular changes as 28 years, while Condon et alb had seen maximum changes in 10-20 years in Bb-SS cases. His study in Jamaica in elderly age groups[5] showed that incidence of peripheral vessel disease appears to increase with age.

Majority of cases of different haemoglo­binopathies had ocular changes in moderate and severe degree of anaemia (less than 10 gm. % of haemoglobin). But the compari­son of the prevalence of ocular changes in different haemoglobin concentrations and in various haemoglobinopathies, of this study, indicates that besides anaemia, the abnormal sickle haemoglobin is the prime cause for the ocular changes in this disorder (e.g. in 6-10 gm.% of haemoglobin range, 57.19% of SCT and 100% of SCA cases had ocular involvement indicating that simple anaemia is not the only cause).

 SUMMARY



The present study reveals that 74.32% of cases had ocular involvement in sickle cell disorder. 100% of sickle cell anaemia and 64.15% of sickle cell trait (SCT) had some ocular changes or other. It is interest­ing to note that only one SCT case attended the hospital for diminished vision due to choroiditis and macular oedema. Sickle cell anemia is likely to develop major ocular hazards like vitreous haemorrhage, prolife­rative retinopathy and retinal detachment etc. leading to blindness.

 ACKNOWLEDGEMENT



The authors are thankful to Dr. J. Pati, Dr. Pandey and Shib Kumar of I.G.H. Rourkela for their kind and valuable help, and also to the Superintendent, VSS. Medical College Hospital, Burla for permission to publish this paper[12].

References

1Lehman. 1952, Brit Med Jour : 404.
2Cook, W.C. 1930, Jour. Med. 11 :541.
3Kate, S.K , V.E. Segokar, Sudha Sutaria and P.J. Mokadam, 1984, Ind. J. Ophthalmol 32: 201.
4Goldberg Mooton F., 1971, Archieves of Ophthalmology 428 :85.
5Condon P.I., Serjeant G.R; 1976, Brit. J. Ophthalmol, 361 :60.
6Condon P.I., 1972, Amer J. Ophthalmol 533 : 73.
7Rubinstein, K., 1967 Brit. J. Ophthalmol 217 : 4.
8Michelson, E. and David Pfaffenbach, 1972, Amer J. Ophthalmol 494: 74.
9Michelson, Paul E. et al, 1972, Amer J. Oph­thalmol 494 : 74.
10Nagpal, K.C. 1977, Arch. Int. Med. 37 :325.
11Condon P.I., Serjeant G.R.. 1973, Brit J. Ophthalmol 57: 81.
12Asdourian, G. Nagpal, K.C. Goldbaum M. 1975, Brit. J. Ophthalmol 59: 710.