Rare case of simultaneous manifestation of pigmented paravenous retinochoroidal atrophy and retinitis pigmentosa in contralateral eye.

A 22-year-old female came to our hospital with chief complaints of narrowing of the visual field in her left eye (OS) since 8 years which was progressive, while she had no complaints in the right eye (OD). She gave no history of night blindness. Her best-corrected visual acuity was 20/20 in OD and 20/30 in OS. Funduscopic examination revealed OD having peripapillary retinochroidal atrophy (PPRCA)[12] that extends along the retinal veins with bone spicule pigment accumulation distributed mainly at distal parts of the atrophic areas, leaving the macula and the optic disc intact [Fig. 1a and c]. The OS had peripheral retinal pigmented epithelium (RPE) atrophy with diffuse bone spicule pigmentation leaving only a small island of the unaffected macula suggesting retinitis pigmentosa (RP) [Fig. 1b and d].[3] We observed arcs of increased autofluorescence surrounding the area of RPE atrophy in OD, while parafoveal ring-shaped area of increased autofluorescence in OS [Fig. 1c and d]. Optical coherence tomography demonstrated normal foveal contour and ellipsoid zone in OD; however, OS had cystoid edema with normal ellipsoid zone in foveal region and absent in para-foveal and peripheral to it [Fig. 2]. Visual field examination revealed an enlargement of physiologic blind spot and paracentral arcuate scotoma in OD and a concentric contraction of visual field in OS [Fig. 3]. The OD showed reduced amplitudes (particularly b-wave) and prolonged latencies, while OS demonstrated nonrecordable pattern in the rod and cone electroretinograms [Fig. 4]. Recent genetic research has found CRB1 (Crumbs 1) gene, the mutations within which are associated with both PPRCA and RP.[4]

Figure 1

Fundus photography together with autofluorescence (a) showing paravenous retinochroidal atrophy while (b) shows peripheral retinal pigmented epithelium atrophy with diffuse bone spicule pigmentation. (c and d) Arcs of increased autofluorescence surrounding the area of retinal pigment epithelium atrophy

Figure 2

Optical coherence tomography demonstrated normal foveal contour and ellipsoid zone in OD; however, OS had cystoid edema with normal ellipsoid zone in foveal region and absent in para-foveal and peripheral to it

Figure 3

Electroretinogram (ERG). The right eye showed reduced amplitudes, while left eye demonstrated a nonrecordable rod and cone ERG

Figure 4

Humphrey visual field: grey scale revealed (RE) paracentral arcuate scotoma and (LE) showed concentric contraction of visual field

Simultaneous manifestation of PPRCA and RP observed in this case is rare[5] and substantiates that these are sister diseases of the same genetic spectrum. This case also highlights the asymptomatic and nonprogressive nature of PPRCA.

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