Retinal pigment epithelial detachments and tears, and progressive retinal degeneration in light chain deposition disease
Case 1 concerns a 60-year-old woman who presented to the medical retina department in 1998 with a best corrected visual acuity (BCVA) of 20/20 OU despite metamorphopsia right eye (OD) Fundus examination showed a serous retinal pigment epithelial (RPE) detachment OD and mild RPE changes in the left eye (OS) (A,B). Medical history revealed the diagnosis of end-stage renal disease and biopsy-proven LCDD 9 years earlier, at the age of 51. In 1998, she underwent kidney transplantation, which suffered acute vascular rejection. Dialysis was immediately instituted and continued until 2004, when she underwent a second kidney transplantation. This transplant failed as well. Histology showed LC deposition in the transplanted kidney. Electron microscopy detected LCs in the basement membrane of the renal tubules. Dialysis was recommenced.\nSignificantly, neither corticosteroids nor other immunosuppressants were used for long periods of time. Further, blood pressure was always very tightly regulated. The patient had neither diabetes mellitus nor primary renal disease.\nOne year after initial presentation, the right macula was flat, but the left eye had developed a serous RPE detachment (C,D). Two years after initial presentation, the left eye also developed an unusual tear of the RPE, and several small serous RPE detachments were observed bilaterally (figure 1E, F). This tear was not located at the border of the RPE detachment, but rather in the middle. Four years after initial presentation, new serous RPE detachments had developed in the mid-periphery of both eyes (G,H). There were no signs of subretinal neovascularisation.\nFive years after initial presentation, the patient began to complain of poor vision. BCVA was 20/25 and 20/30. Marked loss of visual field was recorded bilaterally. At that time, a large tear of the RPE and numerous serous RPE detachments were seen in the right eye (A). In the left eye, a very large serous detachment with recent tears of the RPE was present in the nasal retina of the right eye (B) and the other sectors also had RPE detachments and tears. On indocyanine green angiography, the deep fluorescence was totally blocked in the area of the large RPE detachment (C). The indocyanine green angiography showed no subretinal neovascularisation, and the perfusion was normal in retinal and choroidal vasculature. Lesions continued to develop 11 years after initial presentation (figure 2D,E), and the large serous detachment in the left eye eventually flattened out (figure 2E). Old and new tears of the RPE were visible. Optical coherence tomography (OCT) initially showed RPE detachments, RPE tears and progressive structural disorganisation of the overlying retina. Enhanced depth imaging OCT (EDI-OCT; F) was available starting in 2011. Besides a disorganised retina and multifocal atrophy of RPE, the EDI-OCT images show choroidal thinning and disappearance of choriocapillaris. Perivascular hyperreflectivity is visible around choroidal vessels, particularly in areas where RPE is atrophic. The black and grey areas around choroidal vessels likely correspond with the LC dense deposits. In sum, widespread damage included RPE detachments, which induced RPE tears, leading to scarring and fibrosis.\nAutofluorescent images taken at 9 years, 12 years and 14 years from initial presentation, displayed a rapid increase of hypofluorescent regions, which is indicative of severely diseased RPE and retina (). These areas correspond to severe visual field narrowing and deterioration of the electroretinographic (ERG) response. Indeed, the ERG deteriorated to nearly flat.\nIn 2009, treatment with Revlimid (lenalidomide; Celgene; Summit, New Jersey, USA), a derivative of thalidomide, was initiated to lower the load of LCs. However, leucopenia led to the temporary cessation of treatment, which was later restarted. This second trial was again stopped due to side effects. The last recorded BCVA was 20/200 OD and 20/100 OS in August 2012. The patient was very unhappy, due to progressive loss of visual acuity and constriction of the visual field, with multiple large scotomata.