Sir,
Delayed vitreous haemorrhage is an exceedingly rare complication of cataract surgery; in the paediatric population, it can result in significant visual morbidity. The case presented demonstrates that Lowe syndrome patients can have disorders of primary haemostasis, and may be predisposed to this complication.
Case report
A 4-week-old term male infant presented with absent red reflexes bilaterally. Examination revealed bilateral dense cataracts, with no view to the posterior segment. B-scan ultrasonography was unremarkable.
The patient underwent left lensectomy and anterior vitrectomy. Fundus examination immediately post-operatively revealed a small peripapillary haemorrhage, which remained unchanged at 1 day post-operatively.
Two weeks later, uncomplicated cataract surgery was performed on the right eye. Simultaneous examination under anaesthesia of the left eye revealed corneal haze, hyphaema, and a dense vitreous haemorrhage (VH). There was no retinal detachment (RD) on B-scan. A pars plana vitrectomy (PPV) was planned, but the patient was lost to follow-up. When the PPV was performed 3 weeks later, a funnel RD with significant proliferative vitreoretinopathy was noted. Densiron-fluid exchange was also performed. The patient was again lost to follow-up and returned 3 months later, with a total fibrotic RD (Figure 1). The family declined further surgery, and at last follow-up, the left eye was phthisical.
Figure 1.
Post-operative and fundus examination of the left eye revealing a retinal detachment, and significant proliferative vitreoretinopathy.
Genetic testing revealed a c.940-11 G>A splice site mutation in the oculocerebrorenal gene (OCRL-1), confirming the diagnosis of Lowe syndrome. The patient subsequently developed the classic findings of renal tubulopathy, hypotonia, Rickets syndrome, and developmental delay. Testing revealed abnormal platelet function (Table 1).
Table 1. Haematological testing revealing elevated PFA-100 closure times, and otherwise normal coagulation profile and complete blood count.
| PFA-100 closure time | Coagulation profile | Complete blood count | ||||
|---|---|---|---|---|---|---|
| EPI (seconds) (N=60–115) | ADP (seconds) (N=75–170) | INR (N=0.90–1.10) | PT (seconds) (N=12.71–15.1) | aPTT (seconds) (N=31.6–43.5) | Haematocrit (%) (N=34–40) | Platelets (109/l) (N=140–450) |
| 142 | 226 | 0.93 | 13.1 | 29.2 | 34% | 338 |
Comment
Lowe syndrome is an X-linked recessive disorder, associated with mutations in the OCRL-1 gene (locus Xq26).1, 2 Affected males develop bilateral cataracts requiring surgery.3, 4 Delayed VH is an exceedingly rare complication of paediatric cataract surgery.5, 6 There have been isolated reports of intraoperative hyphaema in Lowe syndrome patients undergoing cataract and goniosurgery.7, 8, 9 To our knowledge, this is the first reported case of delayed post-operative VH after routine cataract surgery in a Lowe syndrome patient.
The OCRL gene regulates signalling pathways essential for normal platelet function.10, 11, 12 OCRL mutations have been linked to systemic haemorrhagic events. Routine coagulation testing can be normal, but many patients have increased platelet closure times. The Platelet Function Analyser (PFA-100) test measures platelet adhesion and aggregation.13, 14 It can be elevated in primary haemostatic disorders, as was the case in our Lowe syndrome patient.
Surgeons need to be aware of systemic haemostatic disorders in Lowe syndrome patients undergoing cataract surgery. Routine haematological testing may be within normal limits. More specialised testing may be necessary to identify this increased bleeding risk.
The authors declare no conflict of interest.
References
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