Extensive subretinal pigment epithelial deposit in two brothers suffering from dominant retinitis pigmentosa

Abstract

The eyes of two brothers with retinitis pigmentosa were removed after death and examined by a variety of techniques, including conventional histology, fluorescence microscopy and both scanning and transmission electron microscopy. Their condition was considered to be of an autosomal dominant type but with some atypical clinical features. The outstanding histological feature in both pairs of eyes was a predominantly acellular deposit of amorphous material situated between the retinal pigment epithelium and Bruch's membrane. This material extended from the disc to beyond the ora serrata. In some regions of the retinae of both brothers, there was a cellular infiltrate into the deposit and this included multinucleate cells. In one brother the deposit was lined externally by a fibrovascular membrane in some few locations. All retinae were degenerate, but all showed preservation of abnormally short and sparse photoreceptor cells in both the peripheral and macular areas. There was only patchy loss of the choriocapillaris, which could have been age-dependent rather than disease-dependent, and the remaining choroidal vessels were patent in all cases. The widespread distribution of the deposit is unusual and suggests that it arises from disordered metabolism of the retinal pigment epithelium. We could not determine whether it was a primary disease process or if it arose as a secondary phenomenon.

Late-onset retinal macular degeneration: clinical insights into an inherited retinal degeneration

“…These appeared prior to vision reduction in a relative 1. This was similar to the finding in three other cases of L-ORMD 19 20. In the study performed by Jacobson et al , all five affected cases aged 62 to 93 were noted to have reduction in vision to 20/400 or below.…”

“…Late-stage L-ORMD is commonly mistaken for retinitis pigmentosa (RP), and the conditions are often difficult to differentiate 20. RP leads to a similar midperipheral pigmentary change and early loss of night vision 26.…”

Quantifying the Separation Between the Retinal Pigment Epithelium and Bruch's Membrane using Optical Coherence Tomography in Patients with Inherited Macular Degeneration

“…23 Our OCT-based findings complement prior histopathology studies of postmortem donor tissue from patients with these three retinal dystrophies. [34][35][36][37] Ex vivo microscopy studies of BM report thickening between 15 and 60 μm in samples from patients with late-stage SFD. 30,36,37 This is similar to the mean variability and mean relative thickness recorded here using SD-OCT ( Fig.…”

Quantifying microstructural changes in retinitis pigmentosa using spectral domain – optical coherence tomography

“…PROS thinning and RPE-Bruch’s complex thickening occur as the disease progresses despite a clinically normal appearing macula. Indeed, some histopathological reports mention the presence of acidic mucosal substances in the inter photoreceptor matrix space [36] and widespread deposits of abnormal material between the RPE and inner collagenous layer of Bruch’s membrane [37–39]. Although foveal thinning in RP is predominantly due to photoreceptor loss or shortening, on multivariate analysis the CRT independently correlated to the CDVA.…”