Multifocal Choroiditis and Acute Posterior Multifocal Placoid PigmentEpitheliopathy Occurring in the Same Patient

The white spot syndromes are a group of idiopathic inflammatory diseasesof the retina characterized by visual loss in association with areas of retinalwhitening. This category includes diseases such as multifocal choroiditis(MFC), punctate inner choroidopathy, multiple evanescent white dot syndrome(MEWDS), serpiginous choroiditis, and acute posterior multifocal placoid pigmentepitheliopathy (APMPPE). To our knowledge, no definite infectious or immuneetiology has been proved for these various entities.¹ Therehave been reports of 2 of these entities occurring in the same patient (acutemacular neuroretinopathy and MEWDS² and MFCand MEWDS³). Patients have been described ashaving overlapping features of these various conditions, eg, MEWDS and MFC.We describe a patient who at age 18 years showed findings consistent withAPMPPE, with visual loss in both eyes. This resolved with a return of visionto 20/20 OU. Sixteen years later, he developed new symptoms and exhibitedlesions of MFC. The old APMPPE lesions remained unchanged.

An 18-year-old man sought care because of headaches and bilateral centralscotomas of 1 week’s duration. He reported having had an upper respiratorytract infection 1 month earlier. Visual acuity was 20/80 OD and 20/30 OS.Ophthalmoscopy showed scattered active foci of whitening of the outer retinain both eyes (Figure 1A and B). Fluoresceinangiography showed hypofluorescence during the early phases of the angiogramwith late staining of the lesions (Figure 1Cand D). A diagnosis of APMPPE was made, but no treatment was given. Duringthe next 3 months, his symptoms gradually resolved and visual acuity returnedto 20/20 OU. The patient had no additional eye symptoms until 16 years later,when he noted the onset of a temporal scotoma and peripheral shimmering inthe left eye. Best corrected visual acuity was 20/25 OD and 20/30 OS. Thevitreous body was clear. The macular area showed the old lesions of APMPPE(largely unchanged and without the development of significant atrophy). However,both eyes showed atrophic punched-out chorioretinal scars (Figure 2) in the macula, midperiphery, and far periphery. The appearanceof these scars and the patient’s symptoms were consistent with a diagnosisof MFC.

Gass⁴ has proposed that many of thesewhite spot syndromes, including MEWDS, punctate inner choroidopathy, and MFC,as well as acute zonal ocult outer retinopathy, have common characteristicsand may be part of the spectrum of a single disease. He has suggested an infectiouscause, in which an unknown virus enters the retina from the peripapillaryarea or perhaps the ora serrata.⁵ Jampol andBecker¹ have suggested that these entitiesare distinct inflammatory diseases, although overlapping cases and the occurrenceof 2 of the entities in a single patient may occur. They concurred with thecommon genetic hypothesis that autoimmune inflammatory disease may explainthese findings.¹ These patients may have geneticloci that predispose them to immune dysregulation and ocular and systemicautoimmune disease. This may explain the potential for 2 entities occurringin a single patient or overlapping symptoms. The case presented herein isa demonstration of unusual concordance of 2 rare diseases, APMPPE and MFC,in the same patient, separated by 16 years. Although the patient’s initialappearance at age 18 years was highly suggestive of APMPPE, this may havebeen an atypical presentation of MFC. However, the clinical course was mostconsistent with APMPPE. The fact that the APMPPE lesions, even 16 years later,did not resemble the MFC lesions supports our conclusion that 2 distinct entitiesoccurred in this patient. This occurrence is consistent with the common genetichypothesis of a genetic predisposition to autoimmune diseases, which allowedboth diseases to occur in a single individual.

Correspondence: Dr Jampol, 645 N MichiganAve, Suite 440, Chicago, IL 60611 (l-jampol@northwestern.edu).

Financial Disclosure: None.

Funding/Support: This study was supported inpart by an unrestricted grant from Research to Prevent Blindness, Inc, NewYork, NY.