Correspondence

Eye (2007) 21, 1449–1450; doi:10.1038/sj.eye.6702960; published online 24 August 2007

An unusual ocular manifestation in fanconi anaemia: anterior ischaemic syndrome

The authors do not have any financial interest in the materials and methods used in the study.

V Jain1, D Shome2,3, A Maiti4 and S Natarajan4

  1. 1Department of Cornea and External Diseases, Aditya Jyot Eye Hospital Pvt Ltd, Wadala, Mumbai, India
  2. 2Department of Ophthalmic and Facial Plastic Surgery, Orbital Diseases, and Ocular Oncology, Aditya Jyot Eye Hospital Pvt Ltd, Wadala, Mumbai, India
  3. 3Department of Ocular Oncology, Tata Memorial Centre, Mumbai, India
  4. 4Department of Retina and Ocular Oncology, Aditya Jyot Eye Hospital Pvt Ltd, Wadala, Mumbai, India

Correspondence: V Jain, E-mail: docvandanajain@rediffmail.com

Sir,

Fanconi's anaemia (FA) is a rare autosomal recessive disorder.1, 2 We report this case, hitherto unreported, to emphasize that anterior segment ischaemia may develop as a complication of uncontrolled anaemia.

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Case report

A 23-year-old male, a known case of FA, presented with decreasing left eye vision of 15 days duration. On examination, the best-corrected visual acuity (BCVA) was 6/6 and light perception in the right and left eye respectively. Intraocular pressure was 20 and 6 mmHg in the right and the left eye respectively. Right eye examination was unremarkable. Left eye showed sub-conjunctival haemorrhage, diffuse corneal oedema with Descemet's folds, pigmented keratitic precipitates, distorted pupil, and a complicated cataract (Figure 1). The fundus could not be visualized. Ultrasound B-Scan of the left eye revealed an echo-free vitreous cavity with attached retina. Integrity of the visual pathway was confirmed with ERG and VEP.

Figure 1.
Figure 1 - Unfortunately we are unable to provide accessible alternative text for this. If you require assistance to access this image, please contact help@nature.com or the author

Clinical photograph of the left eye showing dispersed sub-conjunctival haemorrhage, diffuse corneal oedema with Descemet's folds, pigmented keratic precipitates, distorted pupil, and a complicated cataract.

Full figure and legend (91K)

Haematological evaluation revealed haemoglobin of 7.2 g%, haematocrit 13.30%, total leukocyte count 2100 and low platelet count. Blasts were absent. Systemic vasculitic disorders were ruled out. Doppler scan of the carotids was normal.

The patient received alternate day blood transfusions and oral steroid therapy, for a period of 10 days, monitored by a haematologist. Topically prednisolone acetate 1% eye drops 6 times/day, in weekly tapering doses, and atropine sulphate 1% eye drops 3 times/day was administered. On follow-up, 1 month later, BCVA was 20/600, intraocular pressure was 9 mmHg, corneal oedema had reduced, and iris showed generalized atrophy. There was no evidence of iris neovascularization. The patient was subsequently lost to follow-up.

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Comment

Severe anaemia, with decreased haemoglobin content, lowers the 'oxygen availability', to various parts of the body.3 Ocular findings reported include sub-conjunctival haemorrhage, orbital or eyelid haematoma, hyphema, and fundus findings.4, 5

In this patient, severe anaemia probably led to ischaemic damage of the small vessel wall. This led to bleeding (sub-conjunctival haemorrhage). Besides this, generalized reduction in ocular 'oxygen availability' probably led to ischaemia of the ciliary body. This resulted in diminished aqueous production, anterior segment inflammation, and complicated cataract. These features were suggestive of anterior segment ischaemia.

In haematological disorders as FA, blood parameters should be monitored and strictly controlled, to prevent ocular complications, arising from decreased oxygen yield.

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References

  1. Alter BP, Young NS. The bone marrow failure syndromes. In: Nathan DG, Orkin SH, (eds) Hematology of Infancy and Childhood. WB Saunders: Philadelphia, PA, 1998; 237–317.
  2. Wajnrajch MP, Gertner JM, Huma Z, Popovic J, Lin K, Verlander PC et al. Evaluation of growth and hormonal status in patients referred to the International Fanconi Anemia Registry. Pediatrics 2001; 107: 744–754. | Article | PubMed | ISI | ChemPort |
  3. Zander R. The oxygen status of arterial human blood. Scand J Clin Lab Invest 1990; 50: 187–196. | PubMed | ISI |
  4. Mansour AM, Salti HI, Han DP, Khoury A, Friedman SM, Salem Z et al. Ocular finding in aplastic anemia. Ophthalmologica 2000; 214: 399–402. | Article | PubMed | ISI | ChemPort |
  5. Mohler DN, Leavell BS. Aplastic anemia: an analysis of 50 cases. Ann Intern Med 1958; 49: 326–362. | PubMed | ISI | ChemPort |
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Acknowledgements

This study was financially supported by Aditya Jyot Research Foundation, Dadar, Mumbai, India.