Pigmented Paravenous Retinochoroidal Atrophy Research Articles

Pigmented paravenous retinochoroidal atrophy and retinitis pigmentosa-like phenotype in the same patient: A case series.

Concomitant manifestation of PPRCA in one eye and RP-like retinopathy in the fellow eye is a rare clinical entity, with limited published descriptions to date. The aim of this study is to describe comprehensive clinical evaluations and long-term follow-up of three patients affected by this clinical picture. Three patients with concurrent PPRCA and RP-like retinopathy were prospectively re-evaluated and comprehensive assessments were performed. The progression of disease was assessed by comparing best corrected visual acuity (BCVA) and ellipsoid zone (EZ) width with data available from each patient's medical charts and previous SD-OCT scans. Blood samples were collected and tested to rule out autoimmune or infectious ocular diseases, for testing anti-retinal autoantibodies (ARAs) and for genetic analysis. Reduction in BCVA and a progressive concentric loss of the EZ band over time were detected in the eye with RP-like phenotype in all three patients, while in the eye with PPRCA none of the patients showed significant changes in BCVA and only one patient showed a progressive reduction of the EZ width. No clear etiology has been identified. Two or more ARAs subtypes were detected in two out of three patients. PPRCA was demonstrated to be a non-progressive or slowly progressive disease, instead the eye with RP-like phenotype showed a progressive visual impairment, highlighting the importance of shedding light on this condition. Its etiology remains unclear: a genetic trait with different phenotype between the two eyes is conceivable, as well as a potential role of ARAs.

An Uncommon Presentation of Pigmented Paravenous Retinochoroidal Atrophy

Pigmented paravenous retinochoroidal atrophy is a rare diagnosis of exclusion as it can mimic many hereditary retinal (namely retinitis pigmentosa), infectious, and inflammatory disorders. Once diagnosed, it carries a favorable prognosis due to the macula being spared with slow to no progression and lack of symptoms. However, rare cases have noted macula involvement and symptoms including nyctalopia. Clinicians should be aware of presentations of pigmented paravenous retinochoroidal atrophy, beyond the typical findings noted in the literature, as these cases could be misdiagnosed. This case presents a rare presentation of pigmented paravenous retinochoroidal atrophy. A review of common and uncommon findings, potential pathophysiology, differential diagnoses, and multimodal imaging results is also presented.

Pigmented paravenous retinochoroidal atrophy (PPRCA)

Pigmented paravenous retinochoroidal atrophy (PPRCA) is a rare disorder of unknown etiology. The disease is characterized by pigment accumulation along the distribution of retinal veins with retinochoroidal atrophy. The findings are usually incidental with minimal effect on vision. The diagnosis is made with a clinical examination due to the peculiar retinal findings.

Unilateral pigmented paravenous retinochoroidal atrophy with acute angle-closure glaucoma: a case report

BackgroundPigmented paravenous retinochoroidal atrophy (PPRCA) is an uncommon fundus disease characterized by perivenous aggregations of pigment clumps and retinochoroidal atrophy distributed along the retinal veins. We report a Chinese female case of unilateral PPRCA with acute angle-closure glaucoma (AACG).Case presentationA 50-year-old Chinese female presented with vision loss and elevated intraocular pressure (IOP) in the right eye and then underwent trabeculectomy. She referred to our clinic for further evaluation and treatment. The funduscopic examination revealed grayish retinochoroidal atrophy and osteocyte-like pigment clumping lesions along the retinal veins and peripapillary preretinal hemorrhage in the right eye. The patient also presented with AACG in the same eye on the basis of past medical history of acute attack, shallow anterior chamber depth (ACD), narrow angle showed by ultrasound biomicroscopy (UBM) and glaucomatous neuropathy identified by optical coherence tomography (OCT). Other examinations like fluorescein fundus angiography (FFA), electroretinogram (ERG) and electrooculography (EOG) all confirmed the aforementioned diagnose.ConclusionPPRCA is a rare disease, uncommon in females and symmetrical in both eyes. We present a rare case of unilateral PPRCA accompanied with AACG.

Fundus autofluorescence detects subtle pigmentary alterations in pigmented paravenous retinochoroidal atrophy

Fundus autofluorescence detects subtle pigmentary alterations in pigmented paravenous retinochoroidal atrophy

Familial Drusen, Doyne Honeycomb Retinal Dystrophy (Malattia Leventinese), Pigmented Paravenous Chorioretinal Atrophy and Late-Onset Retinal Degeneration

Inherited retinal diseases are a group of rare, heterogeneous eye disorders caused by gene mutations that result in degeneration of the retina. Malattia Leventinese, also known as familial drusen, dominant drusen, or Doyne honeycomb retinal dystrophy, was first described in patients living in the Levantine Valley in canton Ticino of southern Switzerland in 1925. Characteristic clinical findings include radial macular drusen, large confluent drusen, and juxtapapillary drusen. Especially early visual symptoms typically starting in the 3rd and 5th decades include reduced central vision, photophobia, and metamorphopsia. Pigmented paravenous retinochoroidal atrophy (PPRCA) is an uncommon disease characterized by perivenous aggregations of pigment clumps associated with peripapillary and radial zones of retinochoroidal atrophy that are distributed along the retinal veins. Patients are usually asymptomatic and the disease process is non-progressive or slow and subtly progressive. It is commonly bilateral and symmetric. The autosomal- dominant late-onset retinal degeneration (L-ORD), caused by C1QTNF5 gene mutations, shows typical retinal abnormalities that can extend beyond the macula, and patients can report night blindness in addition to central vision loss. Interestingly, L-ORD patients can have long anteriorly inserted lens zonules and loss of iris pigment.

Un cas d’atrophie chorio-rétinienne para-veineuse pigmentée compliquée d’œdème maculaire cystoïde

Un cas d’atrophie chorio-rétinienne para-veineuse pigmentée compliquée d’œdème maculaire cystoïde

Pigmented paravenous retinochoroidal atrophy associated with Vogt-Koyanagi-Harada disease: a case report

BackgroundTo describe a unique case of pigmented paravenous retinochoroidal atrophy that developed several years after Vogt-Koyanagi-Harada disease.Case presentationA 28-year-old woman presented with gradual vision loss in both eyes and nyctalopia for 2 years. Past medical history was relevant for Vogt-Koyanagi-Harada disease since the age of 19 and positive HLA-DR4. Funduscopic examination revealed perivascular pigmentary clumping and atrophic changes radiating from the optic disks. Spectral domain optical coherence tomography through the macula demonstrated perifoveal outer retinal layers loss with cystic degeneration. Fundus autofluorescence showed zonal areas of hypoautofluorescence corresponding to the areas of atrophy. Full-field electroretinogram identified mildly reduced scotopic and photopic responses. The patient was diagnosed with pigmented paravenous retinochoroidal atrophy.ConclusionsPigmented paravenous retinochoroidal atrophy may be acquired after Vogt-Koyanagi-Harada disease. Pathogenesis of pigmented paravenous retinochoroidal atrophy may involve inflammatory-related precursors on a background of genetic predisposition.

Case Report: Pigmented paravenous retinochoroidal atrophy: a case report

This article, to the best of our knowledge, reports the youngest typical case of pigmented paravenous retinochoroidal atrophy (PPRCA) reported to date. A 27-month-old girl presented with exodeviation in her right eye. She had normal birth and development with unremarkable family history. There were no inflammatory signs. In funduscopy, typical bilateral radial paravenous pigmentary changes and retinochoroidal atrophy were noticed in both eyes. The pigmentations consisted of coarse black pigmentations and fine subretinal yellowish round flecks. They arborized into the peripheral retina along the veins. Unaffected areas between the lesions seemed to be normal. Electroretinogram (ERG) responses showed mild to moderate reductions in both scotopic and photopic tests. Based on retinal examination and ERG findings PPRCA was diagnosed. On 16-month follow up, clinical and ERG findings were the same as the initial presentation. This case showed no progression during 16 months of follow up, which may indicate that primary congenital PPRCA with no inflammatory association may be a non-progressive disease.

SAT-242 Pigmented Paravenous Retinochorodial Atrophy: A Novel Manifestation of Autoimmune Polyglandular Syndrome Type 1

Autoimmune polyglandular Syndrome Type 1 (APS-1) is an autoimmune disease due to defects in the AIRE gene. It is characterized by a triad of hypoparathyroidism, mucocutaneous candidiasis, and Addison’s disease. We present a case of pigmented paravenous retinochoroidal atrophy associated with APS-1. Case description: A 14 year old female who was admitted for cramps in her hands secondary to hypocalcemia. Past medical history is significant for recurrent vaginal candidiasis and panic attacks. Laboratory assessment revealed low parathyroid hormone and hypocalcemia confirming the diagnosis of hypoparathyroidism. After 4 months she presented with vomiting, and dizziness. Serum cortisol levels were low consistent with the diagnosis of adrenal insufficiency. Further evaluation revealed a mutation in the APS-1 gene. At 28 years she presented with complaints of blurred vision and blind spots for a year. Initial ophthalmologic evaluation revealed a visual acuity of 20/60 in the right eye and 20/50 in the left eye. Anterior segment assessment was normal. Fundoscopy revealed presence of speculated pigment and atrophy of the macula long with attenuated retinal vessels. Optical coherence tomography did not show any macular edema. Visual field assessment was normal. She was diagnosed with pigmented paravenous chorioretinal atrophy. Anti-retinal antibodies were positive for 30-kDa, 36-kDa, 40-kDa, and 46-kDa confirming the autoimmune etiology of the disorder. Over the next 2 years, her visual acuity decreased to 20/400 in the right eye and 20/80 in the left eye. Conclusion: APS-1 is a rare disease associated with numerous autoimmune disorders, beyond the classic clinical triad. Pigmented paravenous chorioretinal atrophy is a previously unreported manifestation of APS-1. Unfortunately no definitive treatment exists for retinal degeneration.

Ultra-wide field imaging of pigmented para-venous retino-choroidal atrophy.

To describe the ultra-wide field imaging features of pigmented para-venous retino-choroidal atrophy. Retrospective review at a tertiary care centre. Eight eyes of five patients with pigmented para-venous retino-choroidal atrophy who presented to our retina clinic over last 2 years. Retrospective review of ultra-wide field pseudo-colour and short wave autofluorescence imaging was performed. In vivo histology of the macula and areas of retino-choroidal atrophy was studied with swept source optical coherence tomography (SS-OCT). The median age was 40 years (range: 22-67 years). Best corrected visual acuity ranged from perception of light to 20/20. The para-venous retino-choroidal atrophy and pigment clumping not only involved the major arcade vessels but also extended into the peripapillary area and retinal periphery. The affected areas demonstrated hypoautofluorescence with sharp hyperautofluorescent borders. Macular atrophy, epiretinal membrane and optic disc pallor were noted in two eyes each. In all cases, the affected pigmentary area had disorganization of inner retinal layers, disruption of outer retinal layers and retinal pigment epithelium and markedly thinned out choroid on swept source optical coherence tomography. Concurrent involvement with retinitis pigmentosa in the fellow eye was noted in two patients. Ultra-wide field imaging of pigmented para-venous retino-choroidal atrophy sheds light onto the widespread retino-choroidal abnormalities. Concurrent disc and macular involvement may jeopardize the visual function. Pigmented para-venous retino-choroidal atrophy may be considered as a self-limited form of retinitis pigmentosa.

Use of Wide-Field Fundus Camera, Fundus Autofluorescence, and OCT in Cases of Pigmented Paravenous Retinochoroidal Atrophy

Use of Wide-Field Fundus Camera, Fundus Autofluorescence, and OCT in Cases of Pigmented Paravenous Retinochoroidal Atrophy

Unilateral Pigmented Paravenous Retinochoroidal Atrophy Associated With Presumed Ocular Tuberculosis

This report describes a case of unilateral pigmented paravenous retinochoroidal atrophy (PPRCA) in a patient with low-grade unilateral intermediate uveitis. A 31-year-old woman, previously diagnosed with intermediate uveitis in the right eye (OD) presented to the clinic. Best-corrected visual acuity was 20/20 OD. Fundus examination, fluorescein angiography, autofluorescence, and optical coherence tomography OD were in keeping with a phenotypic diagnosis of PPRCA. Electrophysiology showed severe photoreceptor dysfunction of both the rod and the cone systems OD. Systemic workup revealed QuantiFERON-gold positive. This is the first report of unilateral PPRCA secondary to presumed ocular tuberculosis. [Ophthalmic Surg Lasers Imaging Retina. 2017;48:345-349.].

Pigmented paravenous retinochoroidal atrophy (Review).

Pigmented paravenous retinochoroidal atrophy (PPRCA) is an uncommon disease characterized by perivenous aggregations of pigment clumps associated with peripapillary and radial zones of retinochoroidal atrophy that are distributed along the retinal veins. Patients are usually asymptomatic and the disease process is non-progressive or slow and subtly progressive. It is commonly bilateral and symmetric. The cause of the condition may be unknown or idiopathic, although a dysgenetic, degenerative, hereditary etiology or even an inflammatory cause has been hypothesized. A non-inflammatory cause is referred to as primary, while inflammation-associated PPRCA is referred to as secondary or pseudo PPRCA. The present study reviewed and summarized the features of PPRCA.

Pattern of inner retinal layers involvement in pigmented paravenous retinochoroidal atrophy as determined by SD-OCT: case report

Pigmented paravenous retinochoroidal atrophy is an ocular disease characterized by outer retina and choroidal atrophy often with overlying intraretinal bone spicule pigment deposition along the retinal veins. As a rare condition, there is scant information in the literature regarding the pattern of inner retinal layers involvement. We present a case of a 41-year-old white man initially referred for a glaucoma evaluation. Fundoscopy revealed patches of retinochoroidal atrophy and light pigmentation extending from the optic nerve head along the inferior-temporal retinal veins in both eyes. Using different spectral-domain optical coherence tomography (SD-OCT) protocols we identified a significant thinning of the inner retinal layers along the inferior-temporal veins, but with a lucid interval surrounding the optic nerve head. Standard automated perimetry revealed a superior absolute arcuate scotoma sparing the central fixation (good structure-functional correlation). This pattern of inner retinal layers involvement was not previously described. We believe SD-OCT added significantly to the anatomical description of this case. Physicians should consider these new anatomical findings and correlate them with functional status while assessing these patients.

Pigmented paravenous retinochoroidal atrophy with macular involvement

Case reportA 65-year-old female, with poor visual acuity in right eye since childhood, was referred to our hospital. Funduscopic examination revealed bone-spicule pigmentation and choroidal and retinal pigment epithelium atrophy along the vascular arcades, with macular involvement in right eye. The patient was diagnosed with pigmented paravenous retinochoroidal atrophy (PPRCA). DiscussionPPRCA is a rare disease, of unknown origin, characterised by retinochoroidal atrophy and retinal pigmentation along retinal veins, generally without macular involvement. Latest publications show a slow progression. No effective treatment is available.

Atrofia coriorretiniana pigmentada paravenosa con afectación macular

Case reportA 65-year-old female, with poor visual acuity in right eye since childhood, was referred to our hospital. Funduscopic examination revealed bone-spicule pigmentation and choroidal and retinal pigment epithelium atrophy along the vascular arcades, with macular involvement in right eye. The patient was diagnosed with pigmented paravenous retinochoroidal atrophy (PPRCA). DiscussionPPRCA is a rare disease, of unknown origin, characterised by retinochoroidal atrophy and retinal pigmentation along retinal veins, generally without macular involvement. Latest publications show a slow progression. No effective treatment is available.

SD-OCT in Pigmented Paravenous Retinochoroidal Atrophy

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.

Five cases of pigmented paravenous retinochoroidal atrophy in dogs

To describe a funduscopic finding in dogs that is referred to as Pigmented Paravenous Retinochoroidal Atrophy (PPRCA). Over a period of 24 years of ophthalmological practice, five cases of a characteristic paravenous retinal atrophy were observed in dogs. A comprehensive clinical ophthalmological examination in all five dogs was complemented by abdominal sonography (cases 1, 3), clinical pathology analysis (cases 1, 3, 4), and a histological examination of both bulbi, kidneys, spleen, and liver in one dog (case 1). Localized hyper-reflectivity in the tapetal fundus was observed in all five dogs and demonstrated a characteristic perivascular distribution along some peripheral retinal blood vessels. In these areas, geographic copper-brown coloration that tended to become darker with time was seen. Ophthalmoscopic signs of inflammation were lacking. The funduscopic abnormalities slowly progressed in size over years. Visual impairment could not be detected. Histopathology in one dog revealed severe retinal atrophy with multifocal perivascular distribution, mainly affecting the tapetal fundus and occasionally expanding into the nontapetal fundus. The described retinal lesions bear similarities with PPRCA in humans. As in humans, it appears to be an incidental funduscopic finding that is not associated with obvious vision impairment.

Correlation of Lines of Increased Autofluorescence in Macular Dystrophy and Pigmented Paravenous Retinochoroidal Atrophy by Optical Coherence Tomography

Correlation of Lines of Increased Autofluorescence in Macular Dystrophy and Pigmented Paravenous Retinochoroidal Atrophy by Optical Coherence Tomography