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Unilateral blind spot enlargement occurs as an isolated entity (acute idiopathic blind spot enlargement) or in association with other conditions such as multiple evanescent white dot syndrome, multifocal choroiditis with panuveitis, or punctate inner choroidopathy. It remains controversial whether blind spot enlargement in these conditions serves to unify them as a diagnostic group. The patient presented here had clinical features suggesting “diagnostic overlap” with some of these conditions, suggesting that diagnostic “lumping” of these diseases may have more logic than “splitting” them.
A 30 year old female patient presented to us in September 2000 with a blind spot close to the centre of vision in her left eye. She was uncertain as to how long it had been present, having noticed it only when the other eye was temporarily covered by chance. She was fit and well, with no recent viral illness or previous eye problems. Her acuity with myopic correction (−3.00 dioptre sphere right, −3.25 dioptre sphere left) was recorded at 6/6 right and left, and discrete foci of chorioretinal scarring were noted above and nasal to the optic disc in the left eye (Fig 1). There was no evidence of vitreous inflammatory activity in either eye. Humphrey C24-2 testing revealed an enlarged blind spot on the left (Fig 2), while on the right it was normal. Fluorescein angiography demonstrated window and masking defects consistent with chorioretinal scarring, and late leakage at the optic disc margin.
No treatment was given, and the blind spot has gradually decreased over 12 months.
Fletcher et al1 were the first to describe a syndrome of acute idiopathic blind spot enlargement (AIBSE) without optic disc oedema in a series of seven patients. This phenomenon has since become well recognised both as an isolated finding, and in association with various forms of chorioretinitis including multiple evanescent white dot syndrome (MEWDS), multifocal choroiditis with panuveitis (MCP), acute macular neuroretinitis (AMN), diffuse subretinal fibrosis (DSF), and punctate inner choroidopathy (PIC). Together, these diagnoses span a wide spectrum of clinical disease expression, and it remains controversial whether blind spot enlargement serves to unify the group or whether other clinical features are sufficiently distinctive for them to be regarded as separate disorders. This patient is young, myopic and female, and presented with unilateral blind spot enlargement and chorioretinal scarring in the absence of acute symptoms such as photopsias. These features make it difficult to assign a specific diagnosis, as discussed below.
AIBSE and MEWDS share many common features. Both tend to present acutely with visual loss and photopsias in young myopic females, and follow a prodromal viral illness. They occasionally recur and can both be bilateral. The visual prognosis is good, with early disappearance of the white spots and later resolution of blind spot enlargement in most, though not all, cases. The principal distinguishing feature of MEWDS is the presence of white spots at the level of the outer retina or retinal pigment epithelium (RPE), and the variable presence of vitreous cells, retinal vascular sheathing, and optic disc swelling. Since the white spots can be fleeting and hard to see, it has led some to believe that AIBSE is really a subset of MEWDS patients first seen after resolution of the white spots. However, this has been strongly refuted by Hoyt and Imes,2 who argued that, in contrast with MEWDS, the peripapillary visual loss in AIBSE is absolute in density and has steep edged margins. The presence of chorioretinal scarring in our patient would not be in keeping with either of these conditions.
In multifocal choroiditis with panuveitis (MCP), patients again present acutely with visual loss, scotomata, and/or photopsias. Anterior and/or posterior uveitis is present and foci of chorioretinitis become apparent, most commonly in the peripapillary region. Inflammation leads to a variable degree of chorioretinal scarring, which can gradually enlarge and develop a subretinal component. Blind spot enlargement can occur, and does not always correlate with disc swelling or peripapillary chorioretinal scarring. MCP tends to be recurrent, with asymmetric bilaterality. Subfoveal choroidal neovascularisation (CNV) is the commonest cause of permanent vision loss, with resolution of blind spot enlargement occurring in most patients. Presumed ocular histoplasmosis syndrome (POHS) can cause similar chorioretinal scarring, but is not usually associated with uveitis or blind spot enlargement, and has no female preponderance. So called “pseudo POHS” has been linked with MEWDS, AMN, and AIBSE, though the absence of acute symptoms or vitreous inflammatory activity in our patient is at variance with most previous reports of patients with MCP or POHS.
Punctate inner choroidopathy (PIC) is similar to MCP in many ways, including the presence of an enlarged blind spot in some cases. It is rarer than MCP and no cells or other signs of inflammation are seen in the vitreous or anterior chamber. Our patient would perhaps be closest to PIC in clinical findings, though again the lack of acute symptoms or bilaterality would be atypical.
AMN is less well associated with blind spot enlargement. It occurs predominantly in young adult females, and presents with rapid onset of dense paracentral scotomata. Reddish brown retinal lesions corresponding to the dense scotomata become evident, and are best seen with red free light. Uveitis is not present, and the scotomata diminish over months or years.
Diffuse subretinal fibrosis (DSF) is very rare and regarded by some as a variant of MCP. In addition to many of the clinical features of MCP already discussed, this condition is distinguished by widespread and progressive subretinal fibrosis not preceded by CNV.
The blind spot enlargement in AIBSE, MEWDS, MCP, PIC, AMN, and DSF, coupled with their tendency to present in young adult females, has led to a proposal that they be grouped under the term “acute zonal occult outer retinopathy” (AZOOR).3 Added to the clinical similarities already described, Jacobsen et al4 demonstrated electroretinographic (ERG) abnormalities in a group of 24 AZOOR patients, though in some cases there were only subtle intereye differences detected. It was concluded that ERG findings help to unify this diagnostic group, as well as indicating that the primary pathophysiology lies at the level of the photoreceptor outer segment. This view was not supported by Jampol and Wiredu, who argued that the above entities were sufficiently distinctive to warrant “splitting” rather than “lumping.”5
Our patient does not fit neatly into any of the diagnoses discussed above, and the principal clinical features of blind spot enlargement with chorioretinal scarring in the absence of acute symptoms or evidence of vitritis suggest that there is a degree of diagnostic overlap in her case. To the extent that a single case report can inform this debate, it does indicate that some patients do not fit neatly into diagnostic groups, strengthening the case for those who would “lump” these diagnoses rather than “split” them. Perhaps there are other cases which remain unreported because of this diagnostic uncertainty.