Bilateral serous retinal detachment as the first manifestation of paroxysmal nocturnal haemoglobinuria

Sir,

Paroxysmal nocturnal haemoglobinura (PNH) is an acquired clonal stem cell disorder resulting from a somatic mutation in the haematopoietic stem cell. It is characterized by intravascular haemolysis, cytopenia, frequent infections, bone marrow hypoplasia, and high incidence of life-threatening venous thrombosis.^{1, 2} There is a report on ocular manifestations of PNH where bilateral papilloedema was described.³

Case report

A 43-year-old man who had experienced blurred vision for 1 week visited our clinic. He had no known systemic disease but his general looking appearance was pale. Best-corrected visual acuity (BCVA) was 20/400 in the right eye, 20/200 in the left eye, and both anterior segments were normal on biomicroscopy. Funduscopy and optical coherence tomography (OCT) revealed bilateral serous retinal detachment with some haemorrhagic dots at posterior pole (Figure 1a, b). Fluorescein angiography showed bilateral multiple pin-pointed choroidal leaking with the pooling of dye at posterior pole (Figure 1c–f). Laboratory examination revealed leucocytosis, anaemia, thrombocytopenia, and reticulocytosis. He was referred to a haematologist. Coombs test was negative and bone marrow biopsy showed moderate granulocytic hypoplasia; PNH flow cytometry was positive. The final diagnosis was PNH and steroid pulse therapy (1 g/day) was started with blood transfusion.

Figure 1

Fundus photographs and macular OCTs (a, b) and early (c, d), and late phase (e, f) of fluorescein angiography of the patient. In fundus photographs, there were bilateral subretinal serous fluid at the posterior poles with some haemorrhagic dots at parafoveal area and macular OCTs also revealed bilateral serous retinal detachments (a, b). Fluorescein angiography demonstrated bilateral multiple choroidal leaking point at early phase (c, d) and subretinal accumulation of fluorescein involving fovea at late phase (e, f).

After 3 days of steroid therapy, his BCVA was 20/25 in the both eyes. The funduscopy, OCT, and fluorescein angiography showed resolution of detachment (Figure 2a, b). He was discharged with tapered dosage of steroid. During the 2-month period of follow-up, there has been no relapse of the subretinal fluid.

Figure 2

At 3 weeks after steroid pulse therapy, late-phase fluorescein angiography of the right eye (a) and the left eye (b) of the patient. Late-phase fluorescein angiography showed resolution of serous retinal detachment and fluorescein leakage (a, b).

Comment

We may assume that the cause of serous retinal detachment is from the venous thrombosis that can occur in the choroidal circulation. Prolonged excessive stress on the retinal pigment epithelium (RPE) cells causes impaired function of RPE cells and fluid leakage from choriocapillaries, ultimately pooling fluid into the sub-RPE and subretinal space.⁴

This case is noteworthy for two reasons. First, the ophthalmologist can be the first medical contact, before systemic symptoms appears in PNH. Had the patient not been checked with laboratory examination in our case, other problems may have ensued. Second, this is the first report of PNH with bilateral serous retinal detachment.