Pigmented paravenous retinochoroidal atrophy (PPRCA) is a rare disease characterized by bilateral retinochoroidal atrophy and pigmentation along the retinal veins. The authors describe spectral-domain optical coherence tomography (SD-OCT) in a case of PPRCA. The right macula showed a lamellar macular hole. In addition, scans were taken through the affected areas along the retinal veins that revealed the location of the pigment and other features. These findings have not been reported previously.
From Guru Nanak Eye Centre, Maulana Azad Medical College, New Delhi, India.
The authors have no financial or proprietary interest in the materials presented herein.
Address correspondence to Neha Goel, MS, DNB, Road No. 9, House No. 2, Punjabi Bagh Extension, New Delhi 110026, India. E-mail: firstname.lastname@example.org
Received: August 14, 2011
Accepted: March 13, 2012
Posted Online: May 10, 2012
Pigmented paravenous retinochoroidal atrophy (PPRCA) is an unusual disease characterized by bilateral retinochoroidal atrophy and pigmentation along the retinal veins. Patients are usually asymptomatic and central visual acuity is rarely impaired.1 We report spectral-domain optical coherence tomography (SD-OCT) findings in a case of PPRCA. To the best of our knowledge, this is the first such report. The association of PPRCA with a lamellar macular hole seen in this patient has also not been described earlier.
A 35-year-old woman presented with complaints of gradual blurring of vision in her right eye for 4 months. The patient had no history of ocular trauma, inflammation, or consanguinity. Her best-corrected visual acuity was 20/60 in the right eye and 20/20 in the left eye. Anterior segment examination was unremarkable. Fundus examination of both eyes revealed sharply demarcated retinochoroidal atrophy with dense bony spicule pigmentation along the retinal veins (Figs. 1A and 1B). In addition, the right eye showed a lamellar macular hole and the left eye had a normal macula. Fluorescein angiography confirmed the findings and revealed no active foci of inflammation (Figs. 1C and 1D).
Figure 1. Fundus photograph of the (A) right and (B) left eyes shows retinal pigment epithelium atrophy, especially peripapillary, with pigmentation along the retinal veins. The right macula shows a lamellar macular hole. Fluorescein angiogram of the (C) right and (D) left eyes shows blocked fluorescence corresponding to the dense pigmentation, with surrounding hyperfluorescence corresponding to the retinal pigment epithelium atrophy. There is no macular hypofluorescence or hyperfluorescence. (E) Vertical and (F) horizontal spectral-domain optical coherence tomography scan through the right macula reveals a lamellar macular hole with adjacent cystoid spaces.
SD-OCT was performed on both eyes using RTVue SD-OCT (Optovue Inc., Fremont, CA). The right macula revealed a lamellar macular hole with few adjacent cystoid spaces (Figs. 1E and 1F). The left macula had a normal morphology. Nonstandard scans were taken through the affected area along the retinal veins in both eyes (Figs. 2A and 2C). They showed thinning of the retinal layers with increased backscattering from a disorganized retinal pigment epithelium–choriocapillaris complex. Hyperreflective plaques with underlying shadowing were observed in the superficial retina corresponding to the pigmentation seen clinically (Figs. 2B and 2D).
Figure 2. Spectral-domain optical coherence tomography scans through (A and B) right superotemporal vein and (C and D) left inferotemporal vein shows thinning of the retinal layers with increased backscattering and disorganization of the retinal pigment epithelium–choriocapillaris complex. Hyperreflective plaques with underlying shadowing are picked up in the superficial retina corresponding to pigment clumps seen clinically.
Results of laboratory studies including complete blood cell counts and erythrocyte sedimentation rate were within normal range. Radiology of the chest revealed no abnormality. There was no serologic evidence of syphilis, tuberculosis, toxoplasmosis, herpes simplex virus I–II, cytomegalovirus retinitis, or rubella. The patient was given the option of surgery in the right eye but was not eager to proceed. She was advised to return for regular follow-up.
PPRCA is an uncommon fundus disorder with a striking clinical presentation affecting mostly young men. The majority of patients are asymptomatic and are diagnosed during routine examination.1 The cause of the disease is unknown, but an inflammatory2 or hereditary3 etiology has been suggested. Although rare, macular involvement has been attributed to the presence of ischemic maculopathy,1 cystoid macular edema (in conjunction with active inflammation),2 bilateral macular colobomas (suggesting an inherited disorder),4 or unilateral macular dysplasia.5
Our patient was a woman showing lamellar macular hole with adjacent cystoid spaces in the right eye and perivenous aggregations of pigment clumps associated with peripapillary and radial zones of chorioretinal atrophy in both eyes. This fundus appearance was characteristic of PPRCA; however, the association of a lamellar macular hole was unique in this case and previously unreported.
It is difficult to speculate the cause of formation of lamellar macular hole. Cystoid changes at the edges of the hole may point toward its origin from cystoid macular edema. Lamellar macular holes are known to result from unroofing of the central fovea in chronic cystoid macular edema due to intraocular inflammation. This case lends credence to the view that PPRCA may be the end result of a variety of inflammatory processes with their attendant paravascular changes, as evidenced by the formation of a lamellar macular hole in this patient.
SD-OCT scans through the affected areas along the retinal veins revealed that the location of the pigment was in the superficial neurosensory retina. Retinal atrophy was evidenced by thinning of the neurosensory retina, whereas RPE atrophy was represented by hyperreflectivity and backscattering of the RPE–choriocapillaris complex. A single case report described OCT through the pigment in a family with PPRCA.6 These features could help in the diagnosis of PPRCA and help distinguish equivocal cases.
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