Case Report
A rare presentation of pigmented paravenous retinochoroidal atrophy Arshee S. Ahmed, Pukhraj Rishi1 Fellow-Medical Retina and Uvea, Shri Bhagwan Mahavir Vitreo-Retinal Services, Sankara Nethralaya, 1Consultant, Shri Bhagwan Mahavir Vitreo-Retinal Services, Sankara Nethralaya, Chennai, Tamil Nadu, India
A 21-year-old female patient presented with gradual progressive loss of vision in both eyes of 12 years duration. Funduscopic examination revealed bone-spicule pigmentation and choroidal and retinal pigment epithelium atrophy along the vascular arcades, with macular involvement in both eyes. The patient was diagnosed with pigmented
Introduction Pigmented paravenous retinochoroidal atrophy (PPRCA) is a rare disease, of unknown origin, characterized by retinochoroidal atrophy and retinal pigmentation along retinal veins, generally without macular involvement.[1]
paravenous retinochoroidal atrophy which is rare disease, uncommon in females, more commonly affecting the paravascular fundus. Very few cases of macular involvement have been reported. Keywords: Autofluorescence, electroretinogram, fundus, pigmented paravenous retinochoroidal atrophy
vessels and affecting the macula and the peripheral fundus alike. Multiple areas of bony spicule pigmentation were noted along the veins. Posterior pole showed extensive scarring. A beaten-metal appearance was noted at the macula with scarring at the fovea [Figure 1a and b]. Fundus autofluorescence images revealed hypo-autofluorescent areas corresponding to the atrophic patches over the posterior pole [Figure 1c and d].
Case Report A 21-year-old Asian female presented with painless, progressive diminution of vision of insidious onset in both eyes of 12 years duration. There was no history of trauma or prior inflammatory episodes. Family history was unremarkable. Her best corrected visual acuity (BCVA) was 6/60, N36 in the right eye and 3/60, N36 in the left eye. The anterior segment was unremarkable in both eyes. Examination of the fundus revealed areas of pigmented chorioretinal atrophy extending along the retinal
a
b
c
d
Access this article online Quick Response Code: Website: www.ojoonline.org DOI: 10.4103/0974-620X.149867
Figure 1: (a, b) Color fundus photographs (montages) of the right and left eyes showing extensive chorioretinal atrophy along the vessels along with macular scarring. (c, d) Autofluorescence images of the right and left eyes showing total loss of autofluorescence from the areas of chorioretinal atrophy
Copyright: © 2015 Ahmed AS and Rishi P. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Correspondence: Dr. Arshee S Ahmed, Fellow - Medical Retina and Uvea, Shri Bhagwan Mahavir Vitreo-Retinal Services, Sankara Nethralaya, Chennai - 600 006, Tamil Nadu, India. E-mail: [email protected]
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Ahmed and Rishi: A rare presentation of pigmented paravenous retinochoroidal atrophy Electroretinogram (ERG) showed normal scotopic responses with reduced photopic responses in both eyes [Figure 2]. A diagnosis of PPRCA was arrived at. The nature of the disease was explained and low vision aids were prescribed.
Discussion PPRCA is a rare disease, so described by Franceschetti because of the diagnostic clinical appearance.[1] This disease commonly is detected on routine examination and majority of patients remain asymptomatic. Males are more commonly affected than females and it is commonly bilateral.[1] A review of literature reveals that very few cases of PPRCA have been described in females and involvement of macula is even more rare. In the present case the visual acuity at presentation was poor caused by the macular involvement. There was no evidence of ocular inflammation. Although earlier reports have suggested a possible post-inflammatory etiology such as tuberculosis, rubeola and syphilis as possible causes, a definite etiology remains
elusive.[2] Typically, bone corpuscle pigmentation is seen along the distribution of the retinal veins. Areas of chorioretinal atrophy are seen along the vessels including the peripapillary area. This disease usually spares the rest of the retina, arterioles and the macula. Very few cases of macular involvement have been described.[2] Electrodiagnostic tests results reported in the literature vary from normal to extinguished ERG.[1-3] Our patient showed normal scotopic responses with reduced photopic responses secondary to macular involvement. No established mode of inheritance has been described with various reports suggesting dominant, recessive X-linked and Y-linked modes of transmission.[4] Most cases described have been sporadic and may represent an acquired response pattern to an infectious or inflammatory disease. Both stationary and progressive course of this disease have been described.[1,3,5] Although mutation in the CRB1 gene has been reported to be
Figure 2: Full-field electroretinogram of both eyes showing normal scotopic and reduced photopic responses
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Oman Journal of Ophthalmology, Vol. 8, No. 1, 2015
Ahmed and Rishi: A rare presentation of pigmented paravenous retinochoroidal atrophy associated with PPRCA, our patient did not have genetic testing done even though it was advised. In conclusion, PPRCA can uncommonly present in young adult females with insidious onset and gradual progression even involving the macula.
References 1. 2.
Noble KG, Carr RE. Pigmented paravenous chorioretinal atrophy. Am J Ophthalmol 1983;96:338-44. Murray AT, Kirkby GR. Pigmented paravenous chorioretinal atrophy:
Oman Journal of Ophthalmology, Vol. 8, No. 1, 2015
3.
4. 5.
A literature review supported by a unique case and insight. Eye 2000;14:711-6. Choi JY, Sandberg MA, Berson EL. Natural course of ocular function in pigmented paravenous retinochoroidal atrophy. Am J Ophthalmol 2006;141:763-5. Skalka HW. Hereditary pigmented paravenous retinochoroidal atrophy. Am J Ophthalmol 1979;87:286-91. Pearlman JT, Heckenlively JR, Bastek JV. Progressive nature of pigmented paravenous chorioretinal atrophy. Am J Ophthalmol 1978;85:215-7.
Cite this article as: Ahmed AS, Rishi P. A rare presentation of pigmented paravenous retinochoroidal atrophy. Oman J Ophthalmol 2015;8:47-9. Source of Support: Nil, Conflict of Interest: None declared.
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Copyright of Oman Journal of Ophthalmology is the property of Medknow Publications & Media Pvt. Ltd. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use.
A rare presentation of pigmented paravenous retinochoroidal atrophy Arshee S. Ahmed, Pukhraj Rishi1 Fellow-Medical Retina and Uvea, Shri Bhagwan Mahavir Vitreo-Retinal Services, Sankara Nethralaya, 1Consultant, Shri Bhagwan Mahavir Vitreo-Retinal Services, Sankara Nethralaya, Chennai, Tamil Nadu, India
A 21-year-old female patient presented with gradual progressive loss of vision in both eyes of 12 years duration. Funduscopic examination revealed bone-spicule pigmentation and choroidal and retinal pigment epithelium atrophy along the vascular arcades, with macular involvement in both eyes. The patient was diagnosed with pigmented
Introduction Pigmented paravenous retinochoroidal atrophy (PPRCA) is a rare disease, of unknown origin, characterized by retinochoroidal atrophy and retinal pigmentation along retinal veins, generally without macular involvement.[1]
paravenous retinochoroidal atrophy which is rare disease, uncommon in females, more commonly affecting the paravascular fundus. Very few cases of macular involvement have been reported. Keywords: Autofluorescence, electroretinogram, fundus, pigmented paravenous retinochoroidal atrophy
vessels and affecting the macula and the peripheral fundus alike. Multiple areas of bony spicule pigmentation were noted along the veins. Posterior pole showed extensive scarring. A beaten-metal appearance was noted at the macula with scarring at the fovea [Figure 1a and b]. Fundus autofluorescence images revealed hypo-autofluorescent areas corresponding to the atrophic patches over the posterior pole [Figure 1c and d].
Case Report A 21-year-old Asian female presented with painless, progressive diminution of vision of insidious onset in both eyes of 12 years duration. There was no history of trauma or prior inflammatory episodes. Family history was unremarkable. Her best corrected visual acuity (BCVA) was 6/60, N36 in the right eye and 3/60, N36 in the left eye. The anterior segment was unremarkable in both eyes. Examination of the fundus revealed areas of pigmented chorioretinal atrophy extending along the retinal
a
b
c
d
Access this article online Quick Response Code: Website: www.ojoonline.org DOI: 10.4103/0974-620X.149867
Figure 1: (a, b) Color fundus photographs (montages) of the right and left eyes showing extensive chorioretinal atrophy along the vessels along with macular scarring. (c, d) Autofluorescence images of the right and left eyes showing total loss of autofluorescence from the areas of chorioretinal atrophy
Copyright: © 2015 Ahmed AS and Rishi P. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Correspondence: Dr. Arshee S Ahmed, Fellow - Medical Retina and Uvea, Shri Bhagwan Mahavir Vitreo-Retinal Services, Sankara Nethralaya, Chennai - 600 006, Tamil Nadu, India. E-mail: [email protected]
Oman Journal of Ophthalmology, Vol. 8, No. 1, 2015
47
Ahmed and Rishi: A rare presentation of pigmented paravenous retinochoroidal atrophy Electroretinogram (ERG) showed normal scotopic responses with reduced photopic responses in both eyes [Figure 2]. A diagnosis of PPRCA was arrived at. The nature of the disease was explained and low vision aids were prescribed.
Discussion PPRCA is a rare disease, so described by Franceschetti because of the diagnostic clinical appearance.[1] This disease commonly is detected on routine examination and majority of patients remain asymptomatic. Males are more commonly affected than females and it is commonly bilateral.[1] A review of literature reveals that very few cases of PPRCA have been described in females and involvement of macula is even more rare. In the present case the visual acuity at presentation was poor caused by the macular involvement. There was no evidence of ocular inflammation. Although earlier reports have suggested a possible post-inflammatory etiology such as tuberculosis, rubeola and syphilis as possible causes, a definite etiology remains
elusive.[2] Typically, bone corpuscle pigmentation is seen along the distribution of the retinal veins. Areas of chorioretinal atrophy are seen along the vessels including the peripapillary area. This disease usually spares the rest of the retina, arterioles and the macula. Very few cases of macular involvement have been described.[2] Electrodiagnostic tests results reported in the literature vary from normal to extinguished ERG.[1-3] Our patient showed normal scotopic responses with reduced photopic responses secondary to macular involvement. No established mode of inheritance has been described with various reports suggesting dominant, recessive X-linked and Y-linked modes of transmission.[4] Most cases described have been sporadic and may represent an acquired response pattern to an infectious or inflammatory disease. Both stationary and progressive course of this disease have been described.[1,3,5] Although mutation in the CRB1 gene has been reported to be
Figure 2: Full-field electroretinogram of both eyes showing normal scotopic and reduced photopic responses
48
Oman Journal of Ophthalmology, Vol. 8, No. 1, 2015
Ahmed and Rishi: A rare presentation of pigmented paravenous retinochoroidal atrophy associated with PPRCA, our patient did not have genetic testing done even though it was advised. In conclusion, PPRCA can uncommonly present in young adult females with insidious onset and gradual progression even involving the macula.
References 1. 2.
Noble KG, Carr RE. Pigmented paravenous chorioretinal atrophy. Am J Ophthalmol 1983;96:338-44. Murray AT, Kirkby GR. Pigmented paravenous chorioretinal atrophy:
Oman Journal of Ophthalmology, Vol. 8, No. 1, 2015
3.
4. 5.
A literature review supported by a unique case and insight. Eye 2000;14:711-6. Choi JY, Sandberg MA, Berson EL. Natural course of ocular function in pigmented paravenous retinochoroidal atrophy. Am J Ophthalmol 2006;141:763-5. Skalka HW. Hereditary pigmented paravenous retinochoroidal atrophy. Am J Ophthalmol 1979;87:286-91. Pearlman JT, Heckenlively JR, Bastek JV. Progressive nature of pigmented paravenous chorioretinal atrophy. Am J Ophthalmol 1978;85:215-7.
Cite this article as: Ahmed AS, Rishi P. A rare presentation of pigmented paravenous retinochoroidal atrophy. Oman J Ophthalmol 2015;8:47-9. Source of Support: Nil, Conflict of Interest: None declared.
49
Copyright of Oman Journal of Ophthalmology is the property of Medknow Publications & Media Pvt. Ltd. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use.
