[Show abstract][Hide abstract] ABSTRACT: Choroidal neovascularisation (CNV) is a common vision-threatening complication of myopia and pathological myopia. Despite significant advances in understanding the epidemiology, pathogenesis and natural history of myopic CNV, there is no standard definition of myopic CNV and its relationship to axial length and other myopic degenerative changes. Several treatments are available to ophthalmologists, but with the advent of new therapies there is a need for further consensus and clinical management recommendations. Verteporfin photodynamic therapy has been an established treatment for subfoveal myopic CNV for many years, but this treatment does not restore visual acuity and is associated with long-term chorioretinal atrophy. More recently, clinical trials investigating the efficacy and safety of anti-vascular endothelial growth factor agents in patients with myopic CNV have demonstrated substantial visual acuity gains and quality of life increases compared with photodynamic therapy. These enhanced outcomes provide updated evidence-based clinical management guidelines of myopic CNV, and increase the need for a generally accepted definition for myopic CNV. This review critically summarises the latest myopic CNV literature in the context of clinical experience and recommends a myopic CNV treatment algorithm.
British Journal of Ophthalmology 07/2014; 99(3). DOI:10.1136/bjophthalmol-2014-305131 · 2.81 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: Purpose: To describe focal scleral ectasia in areas of macular/perimacular patchy chorioretinal atrophy secondary to pathologic myopia. Methods: Thirty-nine consecutive patients with pathologic myopia and chorioretinal atrophy in at least 1 eye, with and without focal scleral ectasia, were analyzed by infrared reflectance (IR) and/or MultiColor imaging, enhanced depth imaging optical coherence tomography (EDI OCT) (39 patients, 78 eyes) and swept source (SS) OCT (13 out of 39 patients, 26 eyes) cross-sectional scan. Results: Focal scleral ectasia was found in 12 out of 68 eyes (11 out of 39 consecutive patients, 27 females/12 males; mean age 65.7±11.9 years) with macular/perimacular patchy chorioretinal atrophy, and was always observed inferior or temporal to the macula (mean 1.25±0.38/eye). Focal scleral ectasia, appearing on fundus examination as a deep dark round/oval lesion with well-defined borders, was characterized on EDI OCT and SS-OCT by an abrupt posterior bow of the sclera with different degrees of scleral schisis on its borders. The retinal pigment epithelium and the choroid were absent in all lesions. IR reflectance and MultiColor imaging showed large vessels that seem to emerge from the focal scleral ectasia, and crossing the area of patchy atrophy. EDI OCT and SS-OCT revealed retrobulbar vessels perforating the sclera at the borders/bottom of the abrupt posterior bow of the sclera (ie. focal scleral ectasia) and running through the superficial scleral thickness for the whole extension of the atrophic area. Conclusions: We showed that perforating vessels are localized at the border/bottom of focal scleral ectasia in pathologic myopia.
[Show abstract][Hide abstract] ABSTRACT: Age-related macular degeneration (AMD) is a multifactorial disease involving genetic and environmental factors. Most of the genetic factors identified so far involve the nuclear genome. Recently, two studies in North America and Australia reported an association between advanced AMD and the mitochondrial T2 haplogroup. Our purpose was to assess this association in a large French population.
This case control study included 1,224 patients with neovascular AMD and 559 controls with normal fundus. Mitochondrial DNA polymorphisms at and around nucleotides 4917, 11,812, and 14,233 were determined using PCR amplification and direct sequencing of mitochondrial DNA.
No association was found between the mitochondrial T2 haplogroup and neovascular AMD in the French population: 94/1,152 patients with neovascular AMD had the T2 haplogroup (8.2%) versus 34/482 controls (7.1%; odds ratio=0.9 [0.5-1.5], p=0.66).
An association between AMD and the T2 haplogroup, previously described in North American and Australian populations, was not confirmed in a large French population.
[Show abstract][Hide abstract] ABSTRACT: PURPOSE:: To analyze the genetic and environmental factors associated with reticular pseudodrusen (RPD) in age-related macular degeneration (AMD). METHODS:: In a large population, AMD patients (n = 519) with and without RPD were assessed with a standardized examination including infrared images and spectral domain optical coherence tomography scans. Three groups were defined: Group 1: AMD patients with RPD (n = 105); Group 2: AMD patients without RPD (n = 414); and Group 3: controls with no AMD and no RPD (n = 430). Four genes associated with AMD (CFH, ARMS2/HTRA1, C3, apolipoprotein E) and environmental factors were assessed between the 3 groups. RESULTS:: None of the environmental factors studied were more significantly associated to either Group 1 or Group 2. The odds ratios and 95% confidence intervals for individuals homozygous for the CFH risk allele were 4.0 (2.1-7.7) ([95% confidence interval: 2.1-7.7]; P < 0.0004) in Group 1 and 4.3 ([2.6-7.1]; P < 0.0004) in Group 2, compared with Group 3. The odds ratios for individuals homozygous for the ARMS2 risk allele for Groups 1 and 2 compared with Group 3 were 16.3 ([7.6-35.4]; P < 0.0004) and 11.9 ([6.3-22.3]; P < 0.0004), respectively. None of the genotypes studied were more significantly associated to Group 1 than Group 2. CONCLUSION:: Genotypes known to be associated with AMD were similarly observed in patients with and without RPD.
[Show abstract][Hide abstract] ABSTRACT: : To compare the ability of spectral domain optical coherence tomography (SD-OCT), blue light fundus autofluorescence (FAF), and near-infrared fundus autofluorescence (NIR-FAF) to evaluate foveal involvement in geographic atrophy as a result of age-related macular degeneration.
: All consecutive patients with geographic atrophy underwent FAF (excitation λ = 488 nm; emission λ > 500 nm), NIR-FAF (excitation λ = 787 nm; emission λ > 800 nm), and simultaneous SD-OCT scanning (Spectralis HRA + OCT; Heidelberg Engineering). Two readers independently graded foveal involvement on FAF, NIR-FAF, and SD-OCT and measured the width of foveal sparing. In eyes with an intergrader agreement of foveal sparing by at least one among FAF, NIR-FAF, and SD-OCT, microperimetry (Spectral OCT/SLO; OPKO-OTI) was analyzed.
: A total of 158 eyes (83 patients; 53 women, 30 men, mean age 69.2 ± 4.8 years) with geographic atrophy were included. Spectral domain OCT showed the highest intergrader agreement of foveal involvement (k = k' = 0.8, P = 0.001 vs. k = k' = 0.7, P = 0.01 for NIR-FAF and k = k' = 0.5, P = 0.01 for FAF). In 74 eyes (46.8%) foveal sparing was present according to interobserver agreement. Width of the foveal sparing was larger on SD-OCT than on NIR-FAF and FAF (1,334 ± 943 μm vs. 1,228 ± 912 μm, P < 0.001 and 1,201 ± 922 μm, P < 0.001, respectively). Retinal fixation was predominantly central and stable in 97.3% of eyes with foveal sparing.
: Spectral domain OCT is an appropriate imaging modality for evaluating the presence and extent of foveal sparing, followed by NIR-FAF and FAF.
[Show abstract][Hide abstract] ABSTRACT: PURPOSE:: Large colloid drusen (LCD) are a subgroup of early onset drusen recently reported. The aim of this study was to describe morphologic features in patients affected with LCD using high-resolution spectral-domain optical coherence tomography (SD-OCT). METHODS:: A complete ophthalmologic examination including SD-OCT was performed in 22 eyes of 11 consecutive patients. RESULTS:: Mean age was 35 years old at diagnosis, and mean visual acuity was 20/25. In all eyes, SD-OCT showed multiple dome-shaped retinal pigment epithelium detachments corresponding to the drusen. Mean height of drusen was 199 μm (range, 108-316 μm) and mean width was 419 μm (range, 190-681 μm). Indocyanine green angiography hypofluorescent LCD were larger and more reflective on SD-OCT than indocyanine green angiography hyperfluorescent LCD. All drusen appeared convex with medium and homogeneous internal reflectivity. Retina overlying LCD appeared wavy and overall thinned. Prominent diffuse hyperreflective haze in the Henle fiber layer over drusen was noted in 73% of the eyes. No geographic atrophy or choroidal neovascularization was observed. CONCLUSION:: The peculiar SD-OCT features reported in the current series give insight on the ultrastructure of LCD. Further studies with follow-up evaluation and possibly histologic evaluation are needed to clarify the clinical significance of LCD.
[Show abstract][Hide abstract] ABSTRACT: PURPOSE: To analyze the contribution of fluorescein angiography (FA) and spectral-domain optical coherence tomography (SD OCT) to the diagnosis of recent choroidal neovascularization (CNV) associated with high myopia. DESIGN: Retrospective, observational case series. METHODS: Ninety eyes of 73 highly myopic patients (refractive error ≥-6 diopters) with CNV in 1 or both eyes were included. Epidemiologic features, refractive error, fundus examination, fluorescein angiography, and SD OCT findings at onset of CNV were analyzed. RESULTS: Mean age at onset of CNV was 54.4 ± 14 years. CNV was bilateral in 17 of 73 cases. Mean refractive error was -13.9 ± 5.2 diopters. Myopic CNV was associated more frequently with patchy or geographic atrophy (P = .019). CNV was associated with exudative features on fluorescein angiography in 82% of cases (64/78), and on SD OCT in 48.6% of cases (36/74). There was no agreement about signs of active CNV between these 2 imaging methods (κ = 25.7 ± 10%; P = .0044). CNV area was significantly smaller in younger patients (<55 years) than in older patients (0.57 mm(2) vs 1.21 mm(2), respectively; P = .023). CONCLUSIONS: Exudative features of myopic CNV are more obvious on FA than on SD OCT, suggesting that fluorescein angiography should be performed when new-onset myopic CNV is suspected. Myopic CNV occurring in older patients (≥55 years) is larger than those seen in younger patients and resembles CNV associated with age-related macular degeneration. This suggests an overlap between myopic CNV in older patients and age-related macular degeneration.
American Journal of Ophthalmology 01/2013; 155(5). DOI:10.1016/j.ajo.2012.11.021 · 4.02 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: BACKGROUND: To evaluate the anatomical and functional outcomes of intravitreal dexamethasone implant in patients with macular edema (ME) secondary to retinitis pigmentosa (RP). METHODS: Three patients (four eyes), aged 24 to 46 years, presented with refractory ME secondary to RP. Intravitreal dexamethasone implant (Ozurdex) was administered to treat ME. The anatomical (central macular thickness [CMT]) and functional (best-corrected visual acuity [BCVA]) outcomes as well as adverse events were recorded. RESULTS: All patients completed 6 months follow-up. After intravitreal Ozurdex all patients showed regression of ME. At baseline, mean CMT was 443 ± 185 μm (range 213-619 μm); ME improved to 234 ± 68 μm (range 142-307 μm) at 1 month, to 332 ± 177 μm (range 139-513 μm) at 3 msonth, and to 305 ± 124 μm (range 144-447 μm) at 6 months. Recurrent ME was recorded in 2 patients (both patients at 3 months from intravitreal dexamethasone implant). Retreatment with intravitreal Ozurdex was performed in two patients. Mean BCVA improved form 20/160 (range 20/50-20/200) (baseline) to 20/100 (range 20/40-20/125) at 1 month, to ∼20/125 (range 20/100-20/200) at 3 months, and to ∼ 20/125 (range 20/100-20/160) at 6 months. No serious ocular and systemic adverse events were observed during the study period. CONCLUSIONS: Intravitreal dexamethasone implant provides anatomic and functional improvements and may represent a valuable treatment option for patients with ME secondary to RP.
Albrecht von Graæes Archiv für Ophthalmologie 12/2012; 251(6). DOI:10.1007/s00417-012-2249-4 · 2.33 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: PURPOSE: To describe the results obtained with intravitreal ranibizumab injections in a patient with adult onset foveomacular vitelliform dystrophy (AOFVD) complicated by Type 3 choroidal neovascularization (CNV). METHODS: A 78-year old man diagnosed with AOFVD presented at our department for decreased vision in his left eye (LE) (20/80). Upon a complete ophthalmologic examination, including fluorescein angiography, indocyanine green angiography, and spectral-domain optical coherence tomography, the patient was diagnosed with Type 3 CNV. Three monthly injections of ranibizumab 0.05ml/0.5mg were administered intravitreally without complications. RESULTS: After the first injection, visual acuity of the LE improved (20/64) and regression of the Type 3 CNV was observed by fluorescein angiography, indocyanine green angiography and OCT. Six months after the final ranibizumab injection, a more-or-less complete resolution of the exudative retinal changes was observed. CONCLUSIONS: Type 3 CNV may be associated with AOFVD. Intravitreal ranibizumab may represent a possible therapeutic option in this unusual context.
[Show abstract][Hide abstract] ABSTRACT: Background: To assess the ability of the Spectralis optical coherence tomography (OCT) segmentation software to identify the inner limiting membrane and Bruch's membrane in exudative age-related macular degeneration (AMD) patients. Methods: Thirty-eight eyes of 38 naive exudative AMD patients were retrospectively included. They all had a complete ophthalmologic examination including Spectralis OCT at baseline, at month 1 and 2. Reliability of the segmentation software was assessed by 2 ophthalmologists. Reliability of the segmentation software was defined as good if both inner limiting membrane and Bruch's membrane were correctly drawn. Results: A total of 38 patients charts were reviewed (114 scans). The inner limiting membrane was correctly drawn by the segmentation software in 114/114 spectral domain OCT scans (100%). Conversely, Bruch's membrane was correctly drawn in 59/114 scans (51.8%). The software was less reliable in locating Bruch's membrane in case of pigment epithelium detachment (PED) than without PED (42.5 vs. 73.5%, respectively; p = 0.049), but its reliability was not associated with SRF or CME (p = 0.55 and p = 0.10, respectively). Conclusion: Segmentation of the inner limiting membrane was constantly trustworthy but Bruch's membrane segmentation was poorly reliable using the automatic Spectralis segmentation software. Based on this software, evaluation of retinal thickness may be incorrect, particularly in case of PED. PED is effectively an important parameter which is not included when measuring retinal thickness.
[Show abstract][Hide abstract] ABSTRACT: Purpose. We investigated the association of single nucleotide polymorphism (SNP) in the cholesterol-24S-hydroxylase (CYP46A1) gene, according to CFH and LOC387715 SNPs, with age-related macular degeneration (AMD). Methods. We enrolled 1388 AMD patients with neovascular AMD or geographic atrophy and 487 unrelated control subjects. SNPs were genotyped in the CYP46A1 (rs754203), LOC387715 (rs10490924), and CFH (rs1061170) genes. Plasma 24S-hydroxycholesterol, the metabolic product of CYP46A1, was quantified by gas chromatography-mass spectrometry using an authentic deuterated internal standard in subgroups of patients and controls. The χ(2) test was used to compare categoric allelic and genotype distributions between cases and controls. The odds ratio (OR) with a 95% confidence interval (95% CI) was calculated for AMD risk, and adjusted for age and gender. Significance levels were set at P < 0.05. Results. The rs754203 SNP in the CYP46A1 gene was not associated with AMD (crude OR = 1.2, 95% CI = 0.9-1.4, P = 0.2). The crude OR for risk of AMD was 2.9 (95% CI = 2.4-3.4, P < 0.0001) according to the number of rs10490924 T alleles in the LOC387715 gene, and 2.0 (95% CI = 1.7-2.3, P < 0.0001) according to the number of rs1061170 C alleles in the CFH gene. After adjustment for age and gender, an OR of 2.2 (95% CI = 1.1-4.1, P = 0.04) was obtained for AMD cases with the C allele in the CYP46A1 gene, and carrying no risk alleles in the CFH and LOC387715 genes. Conclusions. The rs754203 C allele in the CYP46A1 gene may confer a higher risk for exudative AMD in patients who carry no risk alleles in the CFH and LOC387715 genes. Additional studies with larger sample sizes are needed in AMD subjects at no risk in CFH and LOC387715.
[Show abstract][Hide abstract] ABSTRACT: BACKGROUND: To analyze the morphological and functional characteristics of malattia leventinese. METHODS: This was a chart review of patients with Malattia Leventinese. All patients underwent a complete ophthalmologic examination, including best-corrected visual acuity (BCVA), fundus autofluorescence (FAF), fluorescein angiography (FA), indocyanine green angiography (ICGA), and optical coherence tomography (OCT). Microperimetry and Preferential Hyperacuity Perimeter (PHP) were performed in a subset of patients. RESULTS: Twelve eyes of six patients were included. BCVA ranged from 20/25 to 20/200. The largest drusen were round, not radially distributed, localized in the perimacular area and around the optic disc. The smallest drusen were not round, radially distributed, mostly localized temporally to the macula. FAF revealed an intense autofluorescence of large drusen. On both FA and ICGA, large round drusen turned to hyperfluorescent in the late phase, while small radial drusen progressively decreased their fluorescence. OCT showed the large round drusen as focal or diffuse deposition of hyperreflective material between the RPE and Bruch membrane within the macula, determining focal dome-shaped or diffuse RPE elevation respectively, and the small radial drusen, which ranged from irregular slight thickening of the RPE/Bruch membrane complex to sawtooth RPE elevation. In three patients (six eyes) that underwent microperimetry and PHP, there was a good correspondence between macular sensitivity and PHP score. Functional impairment correlated topographically to sub-RPE deposition of drusenoid material. CONCLUSIONS: In this series, large round drusen of Malattia Leventinese appeared similar to drusen in age-related macular degeneration, while small radial drusen of Malattia Leventinese shared similarities with early-onset cuticular drusen.
Albrecht von Graæes Archiv für Ophthalmologie 07/2012; 251(3). DOI:10.1007/s00417-012-2106-5 · 2.33 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: To investigate whether the 2 subtypes of advanced age-related macular degeneration (AMD), choroidal neovascularization (CNV), and geographic atrophy (GA) segregate separately in families and to identify which genetic variants are associated with these 2 subtypes.
Sibling correlation study and genome-wide association study (GWAS).
For the sibling correlation study, 209 sibling pairs with advanced AMD were included. For the GWAS, 2594 participants with advanced AMD subtypes and 4134 controls were included. Replication cohorts included 5383 advanced AMD participants and 15 240 controls.
Participants had the AMD grade assigned based on fundus photography, examination, or both. To determine heritability of advanced AMD subtypes, a sibling correlation study was performed. For the GWAS, genome-wide genotyping was conducted and 6 036 699 single nucleotide polymorphisms (SNPs) were imputed. Then, the SNPs were analyzed with a generalized linear model controlling for genotyping platform and genetic ancestry. The most significant associations were evaluated in independent cohorts.
Concordance of advanced AMD subtypes in sibling pairs and associations between SNPs with GA and CNV advanced AMD subtypes.
The difference between the observed and expected proportion of siblings concordant for the same subtype of advanced AMD was different to a statistically significant degree (P = 4.2 × 10(-5)), meaning that in siblings of probands with CNV or GA, the same advanced subtype is more likely to develop. In the analysis comparing participants with CNV to those with GA, a statistically significant association was observed at the ARMS2/HTRA1 locus (rs10490924; odds ratio [OR], 1.47; P = 4.3 × 10(-9)), which was confirmed in the replication samples (OR, 1.38; P = 7.4 × 10(-14) for combined discovery and replication analysis).
Whether CNV versus GA develops in a patient with AMD is determined in part by genetic variation. In this large GWAS meta-analysis and replication analysis, the ARMS2/HTRA1 locus confers increased risk for both advanced AMD subtypes, but imparts greater risk for CNV than for GA. This locus explains a small proportion of the excess sibling correlation for advanced AMD subtype. Other loci were detected with suggestive associations that differ for advanced AMD subtypes and deserve follow-up in additional studies.
[Show abstract][Hide abstract] ABSTRACT: Nonsyndromic high myopia, defined by a refractive error greater than -6 diopters (D), is associated with an increased risk of macular choroidal neovascularization (CNV), a vision-threatening complication. The aim of this study was to investigate whether genetic factors associated with age-related macular degeneration (AMD) are related to myopic CNV.
We conducted a case-control study, including 71 cases with myopic CNV and 196 myopic controls without CNV, from Creteil and Toulouse, France, and Boston, MA. Single nucleotide polymorphisms (SNPs) from 15 genes reported to be related to AMD were selected for association testing in this study.
In univariate analysis, the rs10033900 SNP located in CFI was associated with myopic CNV (P = 0.0011), and a SNP in APOE was also related (P = 0.041). After adjustment for age, sex, and degree of myopia, SNPs in three genes were significantly associated, including CFI (odds ratio [OR] 2.1, 95% confidence interval [CI] 1.3-3.37, P = 0.0023), COL8A1 (OR 1.88, 95% CI 1.18-2.98, P = 0.0076), and CFH (OR 1.65, 95% CI 1.02-2.66, P = 0.04). After correction for multiple testing, only CFI remained significantly related to high myopic CNV (P = 0.045).
We report the first genetic associations with choroidal neovascularization (CNV) in a high myopic Caucasian population. One SNP (rs10033900) in the CFI gene, which encodes a protein involved in the inflammatory pathway, was significantly associated with myopic CNV in multivariate analysis after correction for multiple testing. This SNP is a plausible biological marker associated with CNV outgrowth among high myopic patients. Results generate hypotheses about potential loci related to CNV in high myopia, and larger studies are needed to expand on these findings.
[Show abstract][Hide abstract] ABSTRACT: Introduction
Sickle–cell disease is the most common genetic disease in the world, frequently complicated by potentially blinding retinal complications. The prevalence of sickle–cell retinopathy in patients followed in a referral center is presented in this study.
Patients and methods
The prevalence of proliferative sickle–cell retinopathy by Goldberg classification was determined via a retrospective study of primarily adult SS and SC sickle-cell disease patients and AS sickle trait patients followed in a single referral center for a mean period of 13 years. All patients underwent slit lamp examination and complete fundus examination.
Seven hundred and thirty patients (mean age 32.5 ± 10 years), consisting of 492 SS patients (67.4%), 229 SC patients (31.4%) and nine AS patients (1.2%), were included in the study. 54.6% of SC patients and 18.1% of SS patients had grade 3 to 5 proliferative sickle–cell retinopathy. The prevalence of severe forms of sickle–cell retinopathy was higher among SS men than among SS women (21.7% versus 15.5% ; P < 0.05).
The high prevalence of sickle-cell retinopathy and the potentially severe complications associated with this disease justify screening and therapeutic management by a multidisciplinary team in the setting of a referral center.
[Show abstract][Hide abstract] ABSTRACT: Sickle-cell disease is the most common genetic disease in the world, frequently complicated by potentially blinding retinal complications. The prevalence of sickle-cell retinopathy in patients followed in a referral center is presented in this study.
The prevalence of proliferative sickle-cell retinopathy by Goldberg classification was determined via a retrospective study of primarily adult SS and SC sickle-cell disease patients and AS sickle trait patients followed in a single referral center for a mean period of 13 years. All patients underwent slit lamp examination and complete fundus examination.
Seven hundred and thirty patients (mean age 32.5±10 years), consisting of 492 SS patients (67.4%), 229 SC patients (31.4%) and nine AS patients (1.2%), were included in the study. 54.6% of SC patients and 18.1% of SS patients had grade 3 to 5 proliferative sickle-cell retinopathy. The prevalence of severe forms of sickle-cell retinopathy was higher among SS men than among SS women (21.7% versus 15.5% ; P<0.05).
The high prevalence of sickle-cell retinopathy and the potentially severe complications associated with this disease justify screening and therapeutic management by a multidisciplinary team in the setting of a referral center.
[Show abstract][Hide abstract] ABSTRACT: Myopic choroidal neovascularization (CNV) is the first cause of CNV in young patients. The aim of this study was to compare the efficacy of intravitreal injections (IVT) of ranibizumab with photodynamic therapy (PDT) in this indication.
Retrospective comparative study analyzing the visual acuity (VA) outcomes of CNV myopic patients treated with either IVT or PDT.
Twenty-seven eyes of 25 patients were treated with PDT (group 1) and 18 eyes of 17 patients were treated with IVT of ranibizumab (group 2). Demographic data were similar in the two groups. The median initial VA was 20/80 for group 1 and 20/160 for group 2 (P=0.37). At 1 year, the median VA was 20/80 for group 1 (P=0.32) and 20/63 for group 2 (P=0.04). A significant improvement in VA was observed in 23.1% and in 27.3% of cases in groups 1 and 2, respectively (P=0.53). A significant VA worsening was observed in 34.6% of cases in group 1 and in 9.1% of cases in group 2 (P=0.21).
IVT of ranibizumab compared to PDT treatment showed greater efficacy in this study.
[Show abstract][Hide abstract] ABSTRACT: Proliferative sickle cell retinopathy (PSCR) is the most frequent vision-threatening complication of sickle cell disease (SCD). We investigated the relationship between the severity of sickle cell retinopathy in heterozygous (SC) or homozygous (SS) adult SCD patients and the clinical and laboratory data obtained during visits to a national SCD referral center. This retrospective longitudinal analysis included 942 SCD patients (313 patients with SC and 629 with SS disease) with ophthalmologic evaluations who were followed over a 19-year period by a multidisciplinary team in a referral center. PSCR was graded using the Goldberg classification. We identified patient and SCD characteristics associated with sickle cell retinopathy severity using multinomial logistic-regression models. Multivariate analysis associated severe PSCR forms (stages III-V) with older age (p=0.032), pulmonary involvement (documented pulmonary hypertension with pulmonary arterial pressure≥40 mm Hg, restrictive syndrome>20%, or previous history of pulmonary embolism diagnosed by vascular imaging) (p=0.029), deafness or tinnitus (p=0.026), and no history of osteomyelitis (p=0.013) for SC patients; and with older age (p<0.001), male sex (p=0.003), and acute pyelonephritis (p=0.04) for SS patients. The model of severe PSCR versus no PSCR showed good calibration and discrimination for SC and SS patients. Awareness of the clinical and laboratory factors significantly associated with severe PSCR in patients with SC or SS SCD may contribute to improved preventive strategies.
Medicine 11/2011; 90(6):372-8. DOI:10.1097/MD.0b013e3182364cba · 4.87 Impact Factor