Punctate Inner Choroidopathy and Choroidal Neovascularization in Korean Patients

ABSTRACT

Purpose: To describe the clinical features and outcomes of punctate inner choroidopathy (PIC) in Korean patients

Methods: We retrospectively reviewed the medical records of patients with PIC between 2004 and 2015. The main outcome measures included best-corrected visual acuity (BCVA), presence of choroidal neovascularization (CNV), and optical coherence tomography findings. Patients with and without CNV were compared.

Results: Forty eyes of 26 patients were included. The final BCVA was better than 20/40 in 33 eyes (82.5%). CNV was initially present in 12 eyes (30.0%). The mean initial and final logMAR BCVA was poorer for eyes with CNV than for eyes without CNV. Eyes with CNV exhibited a larger myopic refractive error, inflammatory lesions confined within the posterior pole, and a decreased final subfoveal choroidal thickness compared with eyes without CNV.

Conclusion: PIC in the Korean population generally exhibits favorable visual outcomes, and eyes with CNV show more abnormalities and poorer outcomes.     

Development of Secondary Choroidal Neovascularization in Focal Choroidal Excavation of Punctate Inner Choroidopathy

ABSTRACT

Purpose: To elaborate a case of focal choroidal excavation (FCE) in punctate inner choroidopathy (PIC) complicated by secondary choroidal neovascularization (CNV) based on multimodal imaging findings.

Methods: In this retrospective case report, multimodal imaging including near-infrared reflectance, blue peak autofluorescence, spectral domain-optical coherence tomography (OCT), fluorescein and indocyanine green angiography (Heidelberg Engineering GmbH, Germany), and swept source-OCT angiography (SS-OCTA; Topcon Corporation, Japan) was performed.

Patients: A 27-year-old moderate myopic woman presented with inactive CNV of unknown origin in her left eye, which had been previously treated with intravitreal anti-vascular endothelial growth factor.

Results: Multimodal imaging revealed PIC as the causative disease and systemic corticosteroids were administered. Similar complaints 13 months later showed new CNV formation at the already documented FCE. No sign of PIC could be detected at follow-up.

Conclusion: This well-documented case highlighted FCE as the preferential location for CNV development in PIC with multimodal imaging emphasizing a chorioretinal entity.

Summary: This case report demonstrated the clinical course of focal choroidal excavation in a patient initially diagnosed with punctate inner choroidopathy complicated by choroidal neovascularization and its treatment response, well documented by multimodal imaging including optical coherence tomography angiography.     

Retinal Dystrophy with Intraretinal Cystoid Spaces Associated with Mutations in the Crumbs Homologue (CRB1) Gene

Purpose: To report the occurrence of intraretinal cystoid spaces presumably due to retinal degeneration caused by CRB1 mutations, and the response to treatment with carbonic anhydrase inhibitors.

Materials: Retrospective case series.

Methods: We report four patients with retinal degeneration and intraretinal cystoid spaces due to CRB1 mutation. Of these patients, three were treated with topical carbonic anhydrase inhibitors. One of these three patients was changed to oral carbonic anhydrase inhibitor. Best corrected visual acuity and quantitative and qualitative macular optical coherence tomography results were recorded.

Results: Three patients were compound heterozygous for CRB1 mutations, and one had two mutations one of which was not found in the father. A total of seven different mutations were detected. All patients treated with carbonic anhydrase inhibitors experienced an improvement in visual acuity and decreased central retinal thickness, except in one eye in which retinal thickness paradoxically increased.

Conclusions: CRB1 mutations may be associated with intraretinal cystoid spaces. The use of carbonic anhydrase inhibitors can result in improved visual acuity in some patients.     

Indocyanine Green Angiography in a Case of Punctate Inner Choroidopathy Associated with Acute Zonal Occult Outer Retinopathy

Background The etiology of punctate inner choroidopathy (PIC) and acute zonal occult outer retinopathy (AZOOR) are currently unknown, although both diseases are hypothesized to be part of the spectrum of a single disorder. Case We report indocyanine green (ICG) angiographic findings in a 24-year-old woman in whom PIC was associated with AZOOR. Observations The patient had been diagnosed with bilateral PIC. She noticed a visual field defect in her right eye 8 months later, and a defect in her left eye 25 months later. Perimetry showed an arcuate scotoma (right eye) and a central scotoma (left eye), which could not be explained by funduscopy or late-phase fluorescein angiography. Multifocal electroretinography led to a diagnosis of bilateral AZOOR. ICG angiography demonstrated late multiple patchy hypofluorescent spots throughout the posterior pole in the right eye and geographic hypofluorescence in the macular region from initial to late phase in the left eye. However, these findings were not evident at the onset of PIC. Conclusion These angiographic results suggest that at the onset of AZOOR, choriocapillaris injuries had occurred in the areas corresponding to the scotomas. Jpn J Ophthalmol 2007;51:295–300 @ Japanese Ophthalmological Society 2007     

Mycophenolate Mofetil and Fundus Autofluorescence in the Management of Recurrent Punctate Inner Choroidopathy

Purpose: To compare the frequencies of attacks before and after immunomodulatory therapy (IMT) with mycophenolate mofetil (MMF) in recurrent punctate inner choroidopathy (PIC) and to report fundus autofluorescence (FAF) findings.

Methods: Eight patients who had at least two recurrent episodes of increased activity before MMF and 12 months of documented clinical course before and after MMF were included. The frequencies of attacks before and after MMF were compared. FAF images evaluated.

Results: Before MMF, the 8 patients experienced 19 attacks of recurrent disease activity; during MMF therapy, 3 (38%) patients experienced 6 recurrent episodes. The attack frequencies were 1.09?±?0.75 before and 0.23?±?0.32 during treatment (p?=?.036). Among the 6 patients who had FAF, surrounding hyperautofluorescent halo was detected in 4 and recurrence occurred in 2 who did not show any changes on the intensity during treatment.

Conclusion: In the index study, the employment of MMF has decreased frequency of attacks in recurrent PIC. FAF may be employed to monitor and predict the response to treatment.     

Comparison on Clinical Characteristics of Multifocal Choroiditis and Punctate Inner Choroidopathy

Purpose:To compare the differences in the clinical characteristics of multifocal choroiditis(MFC)and punctate inner choriodopathy (PIC).Methods:A cross-sectional study,consisting of 22 cases (37 eyes) with MFC and 11 cases (18 eyes) with PIC,was carried out.Multiple indexes were measured and analysed to compare the differences in clinical characteristics of the subjects between two groups,including BCVA,avergae age,sex composition,presence of intraocular inflammation,choroidal neovascularization (CNV),and intraocular inflammation complications,such as cataract,cystoid macular edema (CME) and epiretinal membrane (ERM).Results:The avergae age of the MFC and PIC patients were (48.1±13.9) years and (32.1±10.2) years with a significant difference (P=0.043).CNV occurred more frequently in patients with PIC(PIC,55.6％ ;MFC,21.6％ ;P=0.016) compared with those with MFC.MFC patients had a higher frequency of intraocular inflammation complications,such as,cataract (27.0％),CME(35.1％),ERM (5.4％).PIC patients presented none of these complications.MFC subjects presented with more visual impairments than PIC patients.Totally 51.4％ of MFC patients had visual impairments and 22.2％ of PIC patients had BCVA ＜ 0.3 (P=0.047).Conclusion:Both MFC and PIC are categorized into the umbrella term of “white spot syndromes”.Although sharing similar ocular expressions,they present with different clinical characteristics.Patients with PIC had a higher frequency of CNV but a lower frequency of structural complications caused by intraocular inflammation and lower frequency of visual impairments compared with MFC counterparts.     

Fundus Autofluorescence Imaging in Punctate Inner Choroidopathy with Blind Spot Enlargement

Purpose: To present a case report in which fundus autofluorescence (FAF) helped to diagnose and monitor the clinical course of a patient diagnosed with punctate inner choroidopathy (PIC).

Methods: Retrospective chart review of patient data.

Results: FAF showed multiple hypoautofluorescent spots in the posterior pole.It also showed an area of hypoautofluorescence surrounded by a ring of hyperautofluorescence, which corresponded to a larger lesion seen clinically. As the disease became inactive, the number of hypoautofluorescent spots decreased. The rim of hyperautofluorescence surrounding the macular lesion became attenuated.Persistent hypofluorescent areas grew in size.

Conclusions: FAF is a useful imaging modality to better visualize and delineate the extent of damaged retinal pigment epithelium (RPE) in PIC. FAF also helps the clinician to assess the resolution of the disease by the appearance of the RPE.     

Long-Term Outcome of Punctate Inner Choroidopathy or Multifocal Choroiditis with Active Choroidal Neovascularization Managed with Intravitreal Bevacizumab

ABSTRACT

Purpose: To evaluate the long-term outcome of active choroidal neovascularization (CNV) in punctate inner choroidopathy (PIC) or multifocal choroiditis (MFC) after intravitreal bevacizumab treatment.

Methods: Retrospective study of consecutive patients of PIC/MFC complicated with active CNV. Outcome measures included best-corrected visual acuity (BCVA), total number of intravitreal injections of bevacizumab and recurrence of CNV. Correlation analysis was performed to find the correlation of various clinical factors and final BCVA.

Results: There were 23 eyes in 22 patients with a mean age of 33.22 years included in this study. The mean duration of follow-up was 6.48 years. Improvement of BCVA was noted through the first 3 years and at the final follow-up. BCVA at 1, 6, 12 months and recurrence of CNV were correlated with final BCVA.

Conclusion: Most patients of PIC/MFC complicated with CNV managed with intravitreal bevacizumab had improved BCVA over 4 years.     

A novel view of punctate inner choroidopathy: Characterizing the serial changes by high resolution spectrum-domain optical coherence tomography

We report a case of punctate inner choroidopathy (PIC) treated with oral prednisolone and intravitreous bevacizumab injection (IVB). The case was studied and followed for 5 months by serial spectrum-domain optical coherence tomography (SD-OCT). At the early active phase of PIC, SD-OCT showed dome-shaped retinal pigment epithelium (RPE) elevation with underlying intact Bruch's membrane (BM), overlying photoreceptor inner/outer segment junction (PRJ) disappearance, and homogenous hyperreflective sub-RPE signals. After oral prednisolone and IVB, SD-OCT showed resolution of RPE changes with overlying intact PRJ. Further, the localized outer retinal layers were found to gradually move outward. Our case of PIC was followed by SD-OCT and was successfully treated with oral prednisolone and IVB. SD-OCT may play an important role in early identification of PIC and evaluation of disease progression. According to the serial changes in SD-OCT, we hypothesize that the origin of PIC is most likely to be localized at the RPE level. Early detection and intervention may prevent the progression of PIC to choroidal neovascularization and may lead to good prognosis.     

Photodynamic Therapy for Subfoveal Classic Choroidal Neovascularization Related to Punctate Inner Choroidopathy (PIC) or Presumed Ocular Histoplasmosis-Like Syndrome (POHS-Like)

Purpose: To evaluate the safety and efficacy of photodynamic therapy with verteporfin (PDT) for subfoveal classic choroidal neovascularization (CNV) related to punctate inner choroidopathy (PIC) or presumed ocular histoplasmosis-like syndrome (POHS-like). Methods: Retrospective review of 16 eyes from 14 patients with subfoveal classic CNV associated with PIC or POHS-like and treated with PDT. Results: The mean visual acuity increased from 4.5/10 (range: 1/10–9/10) to 7/10 (range: 2/10-10/10) after a mean follow-up of 21 months (range: 8–32 months) and a mean number of 2 PDT (range: 1–6). Visual acuity remained stable or improved in 13 of the 16 eyes (81%) and decreased in three. Conclusion: This nearly two-year follow-up study suggests that PDT could be helpful for patients with subfoveal classic CNV related to PIC or POHS-like.     

Intraretinal cystoid spaces in a patient with retinitis pigmentosa due to mutation in the MAK gene

Background: Cystoid macular edema (CME) and non-leaking intraretinal cystoid spaces (ICS) have different pathophysiologic mechanisms.

Materials and methods: We report a patient with retinitis pigmentosa (RP) with ICS due to a mutation in the male germ cell-associated kinase (MAK) gene.

Results: A 41-year-old Ashkenazi Jewish male was referred for abnormal visual field revealed by regular optometric examination. His visual acuity was 20/20 in each eye. Dilated examination revealed typical finding of RP. Optical coherence tomography showed cystoid changes in each fovea. Photoreceptors were also degenerated. Intravenous fluorescein angiography showed no leakage. Genetic testing identified a homozygous mutation in the MAK gene: a 353-bp Alu insertion (K429insAlu).

Conclusions: Mak regulates microtubule stability via phosphorylating RP1. Abnormal Mak may impact retinal photoreceptor ciliary length and subcompartmentalization. Mak is required for the survival of photoreceptors in mice. ICS has been reported in other ciliopathies. We report the first case of ICS due to mutation in MAK.     

Uveitis: a global perspective

Purpose: To study the patterns of uveitis in various geographic regions. Methods: A systematic literature review was performed using the MEDLINE database, from 1966 to present. Studies that satisfied our described selection criteria were analyzed to provide a global perspective on uveitis. Results: Twenty-two studies, which were the best available representatives of Australia, North and South America, Europe, Asia, and Africa, were included in the final analysis. The distribution of uveitis cases according to the anatomical site of inflammation in the various regions, and the causes and clinical disease associations of anterior, intermediate, posterior, and pan-uveitis were studied for each of the regions and a comparative analysis was performed. Conclusions: There are similarities and distinct differences in the patterns of uveitis in the various geographic regions. Such patterns of uveitis are influenced by combinations of geographical, environmental, and genetic factors.     

Punctate inner choroidopathy: resolution after oral steroid treatment and review of the literature

CASE REPORT: A case of punctate inner choroidopathy (PIC) that resolved after oral steroid treatment is described. The 25-year-old female patient presented with reduced visual acuity of several days duration. Results of fundus examination, fluorescein angiography, and indocyanine green angiography were consistent with PIC with a small choroidal neovascularization lesion nasal to the fovea. Visual acuity improved significantly after several days on oral steroid treatment. COMMENTS: Although spontaneous resolution of the lesions can occur without any treatment, oral steroids in PIC may help achieve improved vision more rapidly. The clinical manifestations, differential diagnosis, and therapeutic modalities of this rare entity are discussed.     

Bevacizumab for the treatment of intraretinal cystic spaces in a patient with gyrate atrophy of the choroid and retina

ABSTRACT

Background: Gyrate atrophy of the choroid and retina is a rare autosomal recessive condition characterized by chorioretinal atrophy due to deficiency of the enzyme ornithine aminotransferase that can be complicated by intraretinal cystic spaces.

Case report: A 15-year-old female complaining of gradually progressive diminution of vision in both eyes preceded by night blindness was found to have gyrate atrophy of the choroid and retina with intraretinal cystic spaces that was evaluated using multimodal imaging including fluorescein angiography, optical coherence tomography, and optical coherence tomography angiography. Functional and anatomical improvement of the intraretinal cystic spaces was achieved with monthly intravitreal bevacizumab injections.

Conclusion: Repeated intravitreal bevacizumab injections can result in anatomical and functional improvement of intraretinal cystic spaces in patients with gyrate atrophy of the choroid and retina.     

Correlation between intraretinal changes in diabetic macular oedema seen in fluorescein angiography and optical coherence tomography

Purpose: To study the relationship between intraretinal optical coherence tomography (OCT) and fluorescein angiography (FA) findings in eyes with diabetic macular oedema (DMO). Methods: We carried out a retrospective observational case series. Thirty eyes with previously untreated DMO underwent FA and OCT. The same ETDRS template was overlaid on the FA images in order to compare OCT and FA. Transfoveal linear high‐resolution OCT scans (at the 0‐ and 90‐degree meridians) and FA pictures were compared according to the ETDRS rings. Results: Six distinct patterns of intraretinal changes in OCT correlated with changes in FA: (a) focal angiographic leakage did not correspond to any obvious intraretinal abnormality in OCT in four eyes; (b) localized thickening of the outer nuclear layer in OCT corresponded to focal leaking microaneurysm (focal oedema) in FA in 11 eyes; (c) diffuse thickening of the outer nuclear layer in OCT corresponded to diffuse angiographic leakage in 21 eyes; (d) cystoid expansion of the outer nuclear layer was found in seven eyes with a petaloid angiographic pattern of leakage; (e) cystoid expansion of the inner nuclear layer was found in relation to honeycomb angiographic oedema in five eyes, and (f) serous detachment of the fovea in OCT did not correspond to any distinct finding in FA in four eyes. Conclusions: Intraretinal abnormalities found in OCT correlate systemically with changes in FA. Very early DMO morphological changes may be seen better with FA than with OCT. Serous detachment of the fovea is seen in OCT, but not in FA. The combination of OCT and FA is useful in facilitating understanding of the pathophysiological changes that occur in DMO.     

光学相干断层扫描血管成像在糖尿病微血管病变中的应用

糖尿病视网膜病变(DR)和糖尿病肾病(DN)是糖尿病患者最常见、最严重的两大微血管并发症,是引起致盲和终末期肾病的主要原因。视网膜血管是糖尿病早期常见的损害靶点,也是人体血管系统中唯一可直视的活体血管,其形态结构或功能的变化可直接或间接反映糖尿病引起的微血管病变。特别是近年来光学相干断层扫描血管成像(OCTA)这一新型、无创技术的发展,在血管成像分辨率、血管深度以及血管形态方面都有新的突破,并能提供客观的定量数据,在糖尿病微血管病变中具有一定应用价值。因此,本文旨在对OCTA及其在糖尿病微血管病变中的应用作一综述。     

视网膜内微血管异常及其来源的新生血管的临床特征

目的:观察糖尿病性视网膜病变(DR)患者视网膜内微血管异常(IRMA)及由IRMA来源的视网膜新生血管的临床特征。方法:本研究为前瞻性、观察性的研究。于2016-10/2017-12期间,经荧光素血管造影(FFA)检查明确有IRMA或者视网膜新生血管的未经治疗的DR患者36例39眼纳入研究。在FFA引导下,对IRMA及视网膜新生血管进行光相干断层扫描血流成像(OCTA)检查。记录并比较IRMA及IRMA来源的新生血管的形态特征、血管来源层次、无灌注区面积、与无灌注区位置关系及病灶在FFA中的渗漏情况。无灌注区面积采用Image J软件进行测量。结果:OCTA成功扫描到IRMA病灶20个,IRMA来源的新生血管22个。20个IRMA病灶均来源并回流于视网膜静脉,血管分支较少,表现为“经修剪过的树干”样外观;IRMA均从无灌注区的边缘长出,位于视网膜静脉的无灌注区一侧,并且在无灌注区内生长;IRMA均位于视网膜内,没有突破内界膜向玻璃体腔内生长。22个IRMA来源的新生血管病灶,血管分支较多,表现为“海扇”样外观;IRMA来源的新生血管往往横跨视网膜静脉,向视网膜静脉的两侧生长、延伸;其主要部分在视网膜内,有个别分支突破内界膜沿着玻璃体后皮质生长,与视网膜紧密黏连。IRMA来源的新生血管20个(91%)位于无灌注区当中,2个(9%)位于无灌注区的边缘。IRMA来源的新生血管病灶旁的无灌注区面积为26.1±4.2mm2,大于IRMA旁的无灌注区面积12.9±4.7mm2(P<0.05)。IRMA及其来源的新生血管的来源层次无差异(P>0.05)。结论:OCTA是IRMA及增殖期糖尿病性视网膜病变(PDR)新生血管的有效检查手段。IRMA及IRMA来源的新生血管具有明显不同的临床特征,OCTA能够有效地对两者进行鉴别,从而为DR患者的诊断及随访治疗提供重要的临床依据。