Retina (Philadelphia, Pa.)最新文献

{"title":"DISTORTION RESOLUTION AFTER VITRECTOMY FOR MACULA-INVOLVING RETINAL DETACHMENT REPAIR: Post Hoc Analysis of the PostRD Trial.","authors":"Edward J Casswell,&nbsp;David Yorston,&nbsp;Edward Lee,&nbsp;David G Charteris","doi":"10.1097/IAE.0000000000003605","DOIUrl":"https://doi.org/10.1097/IAE.0000000000003605","url":null,"abstract":"<p><strong>Purpose: </strong>To investigate changes in subjective and objective distortion in the first 6 months after macula-involving retinal detachment repair.</p><p><strong>Methods: </strong>Post hoc analysis of the PostRD trial: a prospective, multicentered randomized controlled trial. Two hundred and sixty-two patients with macula-involving retinal detachments undergoing repair with vitrectomy and gas tamponade were asked to complete a distortion questionnaire and objective distortion assessment (D chart) 2 and 6 months postoperatively. Visual acuity, retinal displacement (measured with fundus autofluorescence imaging), and quality of life were also recorded.</p><p><strong>Results: </strong>Two months postoperatively 75.5% of patients reported subjective distortion, and this fell to 61.1% at 6 months. Over that period, distortion persisted in 56.5% of patients, resolved in 19.2%, and developed in 5.6%. Approximately one in four had resolution of their distortion by 6 months. The median overall and weighted D chart distortion scores fell between 2 and 6 months but 29% of patients had a worsening of D chart distortion score. D chart distortion scores were more closely correlated with amplitude of postoperative retinal displacement and quality-of-life scores in comparison with subjective distortion.</p><p><strong>Conclusion: </strong>Subjective distortion and objective distortion are common after macula-involving retinal detachment, but can improve over time. Objective measures of distortion were more closely correlated with quality of life and retinal displacement in comparison with subjective distortion.</p>","PeriodicalId":377573,"journal":{"name":"Retina (Philadelphia, Pa.)","volume":" ","pages":"2315-2320"},"PeriodicalIF":3.3,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40442140","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"CLINICAL IMPLICATION OF RETINAL NERVE FIBER LAYER SCHISIS AND MACULAR FLUORESCEIN LEAKAGE IN PRIMARY IDIOPATHIC EPIRETINAL MEMBRANE.","authors":"Jonghyun Kim,&nbsp;Seong-Woo Kim,&nbsp;Mihyun Choi,&nbsp;Cheolmin Yun,&nbsp;Jaeryung Oh","doi":"10.1097/IAE.0000000000003623","DOIUrl":"https://doi.org/10.1097/IAE.0000000000003623","url":null,"abstract":"<p><strong>Purpose: </strong>We evaluated the relationship between macular fluorescein leakage and retinal nerve fiber layer (RNFL) schisis and investigated the visual prognostic values after pars plana vitrectomy (PPV) and idiopathic epiretinal membrane removal.</p><p><strong>Methods: </strong>We analyzed the correlations between preoperative optical coherence tomography (OCT) parameters and macular leakage. The final best-corrected visual acuity and central macular thickness were compared according to the presence or absence of macular leakage and RNFL schisis.</p><p><strong>Results: </strong>In 80 eyes with idiopathic epiretinal membrane treated with PPV and membrane peeling, preoperative macular leakage was associated with the presence of preoperative RNFL schisis and inner nuclear layer microcysts. Eyes with both macular leakage and RNFL schisis showed worse postoperative best-corrected visual acuity than those without both factors.</p><p><strong>Conclusion: </strong>In the presence of macular fluorescein leakage and RNFL schisis, postoperative best-corrected visual acuity is worse, and improvements in the central macular thickness are greater than those in the absence of both factors.</p>","PeriodicalId":377573,"journal":{"name":"Retina (Philadelphia, Pa.)","volume":" ","pages":"2294-2300"},"PeriodicalIF":3.3,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40375416","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"THREE-DIMENSIONAL QUANTIFICATION OF INTRARETINAL CYSTOID SPACES ASSOCIATED WITH FULL-THICKNESS MACULAR HOLE.","authors":"Kotaro Tsuboi,&nbsp;Yukun Guo,&nbsp;Jie Wang,&nbsp;Elizabeth White,&nbsp;Sam Mershon,&nbsp;Motohiro Kamei,&nbsp;David Huang,&nbsp;Yali Jia,&nbsp;Thomas S Hwang,&nbsp;Steven T Bailey","doi":"10.1097/IAE.0000000000003618","DOIUrl":"https://doi.org/10.1097/IAE.0000000000003618","url":null,"abstract":"<p><strong>Purpose: </strong>To evaluate intraretinal cystoid spaces in patients with idiopathic macular hole (MH).</p><p><strong>Methods: </strong>Retrospective cohort study included consecutive patients with full-thickness MH who underwent successful MH surgery and 12 months of follow-up. Custom software was applied to preoperative optical coherence tomography scans to generate fluid volume. Inner fluid volume was defined as cystoid spaces in the inner nuclear layer, and outer fluid volume was defined as cystoid spaces in Henle fiber layer of the outer nuclear layer.</p><p><strong>Results: </strong>Thirty-nine eyes from 39 participants were included. Postoperative 12-month visual acuity correlated with both inner fluid volume and minimum MH size (both P < 0.05) but not outer fluid volume. Inner fluid volume positively correlated with minimum MH size ( P = 0.0003). After accounting for minimum MH size with multivariable analysis, inner fluid volume effect on VA remained significant ( P = 0.025). After dividing inner fluid volume into tertiles, mean baseline visual acuity was 20/50 in eyes with small inner fluid volume, and was 20/125 in eyes with large inner fluid volume ( P = 0.0039). Mean postoperative 12-month visual acuity was 20/20 in eyes with small inner fluid volume compared with 20/32 in eyes with large inner fluid volume ( P = 0.019).</p><p><strong>Conclusion: </strong>Increased inner fluid volume was associated with worse postoperative VA.</p>","PeriodicalId":377573,"journal":{"name":"Retina (Philadelphia, Pa.)","volume":" ","pages":"2267-2275"},"PeriodicalIF":3.3,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40442142","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"NASAL CROWDING AND NASAL TILTING OF THE MACULA AFTER EPIRETINAL MEMBRANE SURGERY.","authors":"Ki Won Jin,&nbsp;Seok Hyun Bae,&nbsp;Young Joo Park,&nbsp;Kyu Hyung Park","doi":"10.1097/IAE.0000000000003606","DOIUrl":"https://doi.org/10.1097/IAE.0000000000003606","url":null,"abstract":"<p><strong>Purpose: </strong>To identify postoperative macula deviation after epiretinal membrane surgery and to investigate its clinical effects.</p><p><strong>Methods: </strong>Patients who underwent idiopathic epiretinal membrane removal and followed up for >12 months were enrolled. Macular deviation was evaluated using disk margin-to-fovea distance, foveal angle, and horizontal and vertical asymmetry of retinal thickness and volume. Horizontal or vertical asymmetry was defined as percentile asymmetry between nasal and temporal quadrants or between superior and inferior quadrants, respectively. The association between macular deviation parameters and best-corrected visual acuity and metamorphopsia were evaluated. Baseline and postoperative parameters were compared depending on epiretinal membrane severity.</p><p><strong>Results: </strong>Data from 102 eyes with a mean follow-up of 21.14 months were analyzed. Disk margin-to-fovea distance and foveal angle decreased with time and horizontal asymmetry of thickness and volume increased with time, showing nasal crowding and nasal tilting. Postoperative changes of disk margin-to-fovea distance and horizontal asymmetry were associated with best-corrected visual acuity. Severe epiretinal membrane eyes showed greater postoperative nasal deviation than mild epiretinal membrane eyes.</p><p><strong>Conclusion: </strong>Postoperative nasal crowding and tilting was quantitatively identified. The causative layers for nasal deviation might be the inner retinal layers, as the foveal angle decreased with time. Postoperative disk margin-to-fovea distance shortening and nasal-deviated horizontal asymmetry were correlated with best-corrected visual acuity improvement.</p>","PeriodicalId":377573,"journal":{"name":"Retina (Philadelphia, Pa.)","volume":" ","pages":"2284-2293"},"PeriodicalIF":3.3,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40472063","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"PARAFOVEAL INNER RETINAL THINNING AS THE BIOMARKER PREDICTING LESS RECURRENCE OF MACULAR EDEMA IN CENTRAL RETINAL VEIN OCCLUSION AFTER DISCONTINUING ANTIVASCULAR ENDOTHELIAL GROWTH FACTOR.","authors":"Hyeon Cheol Roh,&nbsp;Geun Woo Lee,&nbsp;Se Woong Kang,&nbsp;Ki Young Son,&nbsp;Min Chae Kang,&nbsp;Kyung Jun Choi,&nbsp;Sang Jin Kim","doi":"10.1097/IAE.0000000000003616","DOIUrl":"https://doi.org/10.1097/IAE.0000000000003616","url":null,"abstract":"<p><strong>Purpose: </strong>To identify the predictive factors for the recurrence of macular edema after the cessation of antivascular endothelial growth factor treatment in eyes with central retinal vein occlusion (CRVO).</p><p><strong>Methods: </strong>This retrospective study included participants who had discontinued intravitreal bevacizumab injections for complete resolution of macular edema related to CRVO at 3 months after the last injection. Fifty-two eyes were enrolled in this study and classified into two groups based on the recurrence of macular edema within 1 year after the stopping point, when the decision to discontinue injections was made. Clinical characteristics and optical coherence tomographic parameters at baseline and at the stopping point were investigated.</p><p><strong>Results: </strong>Multivariate logistic regression analysis demonstrated that, at baseline, old age was associated with a significantly higher risk of macular edema recurrence (odds ratio, 1.092; P = 0.022). At the stopping point, parafoveal inner retinal thickness (odds ratio: 1.043, P = 0.014) and the presence of ellipsoid zone disruption (odds ratio: 5.922, P = 0.032) were predictive factors for recurrence. The receiver operating characteristic curve showed that parafoveal inner retinal thinning of >7 µm compared with that in the fellow eye was significantly associated with decreased recurrence of macular edema.</p><p><strong>Conclusion: </strong>Parafoveal inner retinal thinning and intact ellipsoid zone after resolution of macular edema by antivascular endothelial growth factor treatment were predictive of a lower risk of recurrence of macular edema in CRVO. These intuitive biomarkers may help predict future disease courses and design optimal treatment strategies.</p>","PeriodicalId":377573,"journal":{"name":"Retina (Philadelphia, Pa.)","volume":" ","pages":"2336-2345"},"PeriodicalIF":3.3,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40472066","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"COMPARISON OF PRIMARY AND SECONDARY FORMS OF MULTIPLE EVANESCENT WHITE DOT SYNDROME.","authors":"Yasmine Serrar,&nbsp;Armelle Cahuzac,&nbsp;Pierre Gascon,&nbsp;Carole Langlois-Jacques,&nbsp;Martine Mauget-Faÿsse,&nbsp;Benjamin Wolff,&nbsp;Pascal Sève,&nbsp;Laurent Kodjikian,&nbsp;Thibaud Mathis","doi":"10.1097/IAE.0000000000003609","DOIUrl":"https://doi.org/10.1097/IAE.0000000000003609","url":null,"abstract":"<p><strong>Purpose: </strong>The aim of this study was to compare primary versus secondary forms of multiple evanescent white dot syndrome (MEWDS) at T0 (baseline) and T1 (1-4 months after the onset of symptoms).</p><p><strong>Methods: </strong>A total of 101 eyes in 100 patients were included in a multicentric retrospective study.</p><p><strong>Results: </strong>Secondary MEWDS was defined as MEWDS associated with underlying chorioretinal inflammatory pathologies, mainly multifocal choroiditis and punctuate inner choroidopathy. Patients with secondary MEWDS were older (P = 0.011). The proportion of women (P = 0.8), spherical equivalent (P = 0.3), and best-corrected visual acuity at T0 (P = 0.2) were not significantly different between the two groups. The area of MEWDS lesions on late-phase indocyanine green angiography was significantly smaller in secondary MEWDS (P = 0.001) and less symmetrical with respect to both horizontal (P = 0.003) and vertical (P = 0.004) axis. At T0, neither the clinical (P = 0.5) nor the multimodal imaging (P = 0.2) inflammation scores were significantly different between the groups. At T1, the multimodal imaging inflammation score was higher in secondary MEWDS (P = 0.021).</p><p><strong>Conclusion: </strong>In secondary MEWDS, outer retinal lesions are less extensive and located close to preexisting chorioretinal lesions. Mild signs of intraocular inflammation on multimodal imaging are more frequent in secondary MEWDS during recovery. These findings suggest that chorioretinal inflammation may trigger secondary MEWDS.</p>","PeriodicalId":377573,"journal":{"name":"Retina (Philadelphia, Pa.)","volume":" ","pages":"2368-2378"},"PeriodicalIF":3.3,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40474820","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"DRAINAGE RETINOTOMY IS A RISK FACTOR FOR SURGICAL FAILURE AFTER PARS PLANA VITRECTOMY IN PATIENTS WITH PRIMARY UNCOMPLICATED RHEGMATOGENOUS RETINAL DETACHMENT.","authors":"Hiromi Ohara,&nbsp;Yuki Yuasa,&nbsp;Yosuke Harada,&nbsp;Tomona Hiyama,&nbsp;Ayako Sadahide,&nbsp;Akira Minamoto,&nbsp;Kazuyuki Hirooka,&nbsp;Yoshiaki Kiuchi","doi":"10.1097/IAE.0000000000003608","DOIUrl":"https://doi.org/10.1097/IAE.0000000000003608","url":null,"abstract":"<p><strong>Purpose: </strong>To identify risk factors for recurrent retinal detachment after uncomplicated pars plana vitrectomy in patients with primary rhegmatogenous retinal detachment (RRD).</p><p><strong>Methods: </strong>This single-center retrospective study included patients with primary RRD who underwent 23-gauge and 25-gauge pars plana vitrectomy at Hiroshima University Hospital between January 2016 and May 2021. All patients had ≥3 months of follow-up. Patients were excluded if they had preoperative proliferative vitreoretinopathy worse than Grade C1; giant retinal tears; tractional, exudative, or traumatic retinal detachment; or the use of perfluorocarbon liquid. Factors that influenced RRD treatment outcome and postoperative complications were evaluated.</p><p><strong>Results: </strong>We analyzed 519 eyes of 509 patients who underwent pars plana vitrectomy for primary RRD. The primary and final success rates were 93.8% and 99.8%, respectively. Drainage retinotomy was a risk factor for surgical failure in both multivariate analysis (odds ratio 2.36, 95% confidence interval 1.08-5.15, P = 0.0314) and a propensity score-matching analysis (odds ratio 3.20, 95% confidence interval 1.14-9.04, P = 0.0277). Postoperative epiretinal membrane was associated with drainage retinotomy in multivariate analysis (odds ratio 1.93, 95% confidence interval 1.04-3.57, P = 0.0358).</p><p><strong>Conclusion: </strong>The avoidance of drainage retinotomy during small-gauge pars plana vitrectomy in patients with RRD may lead to better surgical success and less frequent epiretinal membrane formation.</p>","PeriodicalId":377573,"journal":{"name":"Retina (Philadelphia, Pa.)","volume":" ","pages":"2307-2314"},"PeriodicalIF":3.3,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40472064","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Mystery of changing choroidal thickness.","authors":"Javier Montero-Hernández,&nbsp;Lidia Remolí-Sargues,&nbsp;Roberto Gallego-Pinazo,&nbsp;Enrique Cervera-Taulet,&nbsp;Brandon J Lujan,&nbsp;Oleg Alekseev,&nbsp;Eleonora M Lad","doi":"10.1097/IAE.0000000000003415","DOIUrl":"https://doi.org/10.1097/IAE.0000000000003415","url":null,"abstract":"","PeriodicalId":377573,"journal":{"name":"Retina (Philadelphia, Pa.)","volume":" ","pages":"2425-2429"},"PeriodicalIF":3.3,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39712559","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"TREATMENT OF PERSISTENT MACULAR HOLES WITH HEAVY SILICONE OIL.","authors":"Tibor Lohmann,&nbsp;Hendrik Schwarzer,&nbsp;Antonis Koutsonas,&nbsp;Yassin Djalali-Talab,&nbsp;Matthias Fuest,&nbsp;Randolf A Widder,&nbsp;Peter Walter,&nbsp;Gernot Roessler","doi":"10.1097/IAE.0000000000003620","DOIUrl":"https://doi.org/10.1097/IAE.0000000000003620","url":null,"abstract":"<p><strong>Background/purpose: </strong>To determine anatomical success and best-corrected visual acuity after secondary surgery with heavy silicone oil tamponade in patients with persistent full-thickness macular holes.</p><p><strong>Methods: </strong>In this retrospective study, 63 eyes with persistent full-thickness macular holes after primary pars plana vitrectomy and internal limiting membrane peeling underwent secondary surgery with heavy silicone oil tamponade. Macular spectral domain optical coherence tomography and best-corrected visual acuity measurements were performed during the follow-up.</p><p><strong>Results: </strong>Fifty of 63 eyes (79.4%) achieved anatomical success. In eyes achieving anatomical success, best-corrected visual acuity before primary vitreoretinal surgery was significantly better (0.77 [∼20/125 Snellen] ± 0.24 [1.3-0.3] logarithm of the minimum angle of resolution) compared with eyes not achieving anatomical success (0.88 [∼20/160 Snellen] ± 0.17 [1.1-0.6] logarithm of the minimum angle of resolution, P = 0.044). Minimum linear diameter of full-thickness macular holes was significantly smaller in eyes achieving anatomical success, both before primary (403.4 ± 128.7 [199.0-707.0] µ m vs. 568.1 ± 209.1 [307.0-953.0] µ m, P = 0.009) and secondary surgery (464.1 ± 215.0 [178.0-1,521.0] µ m vs. 663.3 ± 228.5 [451.0-1,301.0] µ m, P = 0.010). Patients remaining phakic during all three surgeries did not benefit from best-corrected visual acuity improvement, although anatomical success was achieved.</p><p><strong>Conclusion: </strong>Heavy silicone oil tamponade in secondary surgery for persistent full-thickness macular holes is a safe and efficient surgical method. Best-corrected visual acuity and minimum linear diameter before surgery may be indicators for anatomical success.</p>","PeriodicalId":377573,"journal":{"name":"Retina (Philadelphia, Pa.)","volume":" ","pages":"2258-2266"},"PeriodicalIF":3.3,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40343956","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"CONGENITAL POSTERIOR POLAR CHORIORETINAL HYPOPLASIA: Expansion of the Clinical Spectrum, Mutation, and Its Association With PRDM13.","authors":"Kent W Small,&nbsp;Caroline A Tawfik,&nbsp;Nitin Udar,&nbsp;Uma Udar,&nbsp;Jessica Avetisjan,&nbsp;Lamia A El-Aidy,&nbsp;Fadi S Shaya","doi":"10.1097/IAE.0000000000003611","DOIUrl":"https://doi.org/10.1097/IAE.0000000000003611","url":null,"abstract":"<p><strong>Purpose: </strong>To describe a new ocular phenotype in a single Egyptian family associated with a heterozygous noncoding mutation in the North Carolina macular dystrophy (NCMD/MCDR1) locus, likely affecting the PRDM13 gene.</p><p><strong>Methods: </strong>A retrospective, clinical chart review of 11 members of a four-generation family. Comprehensive ophthalmic examinations included visual acuity, refraction, fundus imaging, spectral-domain optical coherence tomography, and full-field electroretinography. Molecular genetic analysis of the MCDR1 region was performed using whole genome and targeted sequencing. The main outcome measures were DNA sequence variants, clinical, retinal imaging, and electroretinography findings.</p><p><strong>Results: </strong>The five affected adult family members tested carried a single heterozygous mutation in a noncoding region (Chr6:100,046,783A>C) located 7.8 kb upstream of PRDM13. Visual acuity ranged from 20/200 to 20/400. All members had extensive chorioretinal absence/thinning extending outside of the maculae with extensive posterior bowing of the choroid and sclera centered in the macula giving a large macular coloboma-like appearance. Two additional members had cystoid fluid, and one had macular detachment. Full-field electroretinography revealed reduced cone and rod responses in all affected members.</p><p><strong>Conclusion: </strong>The phenotype of this disease falls between the spectrum of progressive bifocal chorioretinal atrophy and NCMD. The findings are most consistent with progressive bifocal chorioretinal atrophy with the exception that there is no bifocal nature to the appearance nor is it progressive. Another view is that the phenotype seems to be an extremely severe form of NCMD. Given that this disease falls in between progressive bifocal chorioretinal atrophy and NCMD, we propose calling it congenital posterior polar chorioretinal hypoplasia.</p>","PeriodicalId":377573,"journal":{"name":"Retina (Philadelphia, Pa.)","volume":" ","pages":"2379-2387"},"PeriodicalIF":3.3,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40442137","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}