The use of pan-retinal photocoagulation to treat recurrent vitreous haemorrhage with neovascularisation in the context of Epstein syndrome: an MYH9-related disorder

Abstract

A female patient presented with stable chronic thrombocytopaenia with large platelets, sensorineuronal deafness and renal impairment. Her treatment was refractory to intravenous immunoglobulins (IVIG) and steroids for a putative diagnosis of immune thrombocytopaenic purpura (ITP). She underwent genetic testing which revealed a MYH9 mutation in-keeping with a diagnosis of Epstein Syndrome. Subsequently to this she developed globally constricted fields on Goldmann visual field testing. MRI pituitary was unremarkable but she was diagnosed with a pituitary microprolactinoma secondary to raised prolactin in the blood responsive to carbegoline therapy. She subsequently developed retinal haemorrhages and recurrent vitreous haemorrhages due to neovascularisation. Fluorescein angiography revealed the extent of the neovascularisation and microvascular ischaemia. She underwent pan-retinal photocoagulation (PRP) to treat the ischaemic stimulus which resulted in regression of the new vessels and cessation of vitreous haemorrhages. There are no previous reported cases of microvascular retinal disease in the literature in the context of Epstein Syndrome, and this is the first report of successful treatment with PRP.

Keywords: Haematology (incl blood transfusion); Ophthalmology; Retina.

Figure 1

Fundus photographs during episode of sudden visual loss in 2012. (A) Several areas of retinal haemorrhage in the right eye on colour imaging and (C) on infrared imaging. (B) Colour fundus photography demonstrating vitreous and subhyaloid haemorrhage in the left eye and (D) demonstrated on infrared imaging.

Figure 2

Fluorescein angiography at the time of the vitreous haemorrhage demonstrating (A) neovascularisation and leaking vessels around the optic disc on the right eye, and (B) profuse leaking vessels and neovascularisation around the optic disc.

Figure 3

Fundus photography following pan-retinal photocoagulation demonstrating no further haemorrhage and scarring in the periphery of the retina on colour imaging in (A) the right eye and (B) the left eye. This is highlighted on infrared imaging of (C) the right fundus and (D) the left fundus.