RESUMO
Variants in the X-linked retinitis pigmentosa GTPase regulator gene (RPGR) and, specifically, in its retinal opening reading frame-15 isoform (RPGRORF15) may cause rod-cone (RCD), cone, and cone-rod dystrophies (CDs and CRDs). While RPGR-related RCDs have been frequently evaluated, the characteristics and progression of RPGR-related CD/CRDs are largely unknown. Therefore, the goal of our work was to perform genotype-phenotype correlations specifically in RPGRORF15-related CD/CRDs. This retrospective longitudinal study included 34 index patients and two affected relatives with a molecular diagnosis of RPGR-related CD/CRDs. Patients were recruited at the "Quinze-Vingts" Hospital, Paris, France and screened for mutations in RPGRORF15 at the Institut de la Vision, Paris, France. We identified 29 distinct variants, of which 27 were truncating. All were located in the 3' half of the RPGRORF15 transcript. Twenty of them were novel. Fifteen subjects were affected by CD, the remaining had CRD. When analyzing the longitudinal data, a progressive decline in visual acuity (VA) was noted, with more than 60% of the patients reaching VA ≥ 1 LogMar in the best eye after the fifth decade of life. To our knowledge, this is the largest described study of a cohort of CD/CRD patients affected by RPGRORF15 variants. Longitudinal data showed a rapidly progressive disease, possibly locating an optimal window of intervention for future therapies in younger ages.
Assuntos
Distrofias de Cones e Bastonetes , Proteínas do Olho , Retinose Pigmentar , Distrofias de Cones e Bastonetes/genética , Proteínas do Olho/genética , Genes Reguladores , Humanos , Estudos Longitudinais , Mutação , Linhagem , Retinose Pigmentar/diagnóstico , Retinose Pigmentar/genética , Estudos RetrospectivosRESUMO
PURPOSE: The purpose of the study was to evaluate the results and complications of laser-assisted in situ keratomileusis (LASIK) using a femtosecond laser as a retreatment modality of myopia and myopic astigmatism after previous myopic photorefractive keratectomy (PRK). METHODS: In this retrospective, consecutive, noncomparative case series study, 69 eyes of 41 patients receiving femtosecond LASIK after previous myopic PRK were evaluated. The mean age was 43.0 ± 8.9 years. The preoperative mean SE was -1.82 ± 1.01 diopter (D), range -0.62 to -6.25. The mean central epithelial thickness was 65 ± 5 µm. A flap was created using a low-energy femtosecond laser (Ziemer LDV Z8), with a programmed thickness calculated by adding 40 µm to the epithelial thickness. Refractive ablation was performed using a Technolas Teneo 317 laser (Bausch and Lomb). RESULTS: Twelve months after LASIK, the mean SE was -0.03 ± 0.17 D, with all eyes ≤0.50 D of SE. The mean DE was 0.30 ± 0.25, with 62 eyes (89.9%) ≤0.50 D and all eyes ≤1 D. The mean corrected distance visual acuity (CDVA) was 0.04 ± 0.10 logMAR; no eye lost more than 1 line of CDVA. The mean uncorrected distance visual acuity was 0.07 ± 0.13 logMAR, being 20/25 or better in all eyes. The safety index (postoperative CDVA/preoperative CDVA) was 1.05. The efficacy index (postoperative uncorrected distance visual acuity/preoperative CDVA) was 0.98. No significant complications occurred. CONCLUSIONS: Myopic retreatments by femtosecond LASIK after primary PRK yielded excellent refractive results without relevant complications. The flap thickness must be tailored to the epithelial thickening after PRK.
Assuntos
Astigmatismo , Ceratomileuse Assistida por Excimer Laser In Situ , Miopia , Ceratectomia Fotorrefrativa , Humanos , Adulto , Pessoa de Meia-Idade , Ceratectomia Fotorrefrativa/métodos , Ceratomileuse Assistida por Excimer Laser In Situ/métodos , Estudos Retrospectivos , Lasers de Excimer/uso terapêutico , Refração Ocular , Córnea/cirurgia , Miopia/cirurgia , Astigmatismo/cirurgia , Retratamento , Resultado do TratamentoRESUMO
PURPOSE: The aim of this study was to evaluate a new femtosecond laser application for refractive corneal lenticule extraction with suction control and computerized regulation of centration and alignment (Ziemer CLEAR). METHODS: This was a retrospective, consecutive, noncomparative case series study. Patients undergoing CLEAR for spherical equivalent (SE) between -3 and -10 D, evaluating SE, defocus equivalent, refractive astigmatism, visual acuity, and centration at 10 months were evaluated in the study. RESULTS: Fifty-three eyes of 42 patients (mean age 40.4 ± 8.6 years) were included, with preoperative SE -5.99 ± 1.49 D and mean corrected distance visual acuity (CDVA) of 0.05 ± 0.07 logMAR. With no suction losses, an intact lenticule was extracted in all eyes. In 6 eyes, peripheral adhesion was resolved by lenticulerrhexis, and in 1 eye, the incision was opened by a crescent blade. Moderate interface inflammation occurred in 3 eyes. At day 1, in the 42 eyes with uneventful surgery, the mean CDVA was 20/27, whereas in the 11 eyes with extra surgical manipulations, it was 20/36 ( P = 0.04). At 10 months, for the 53 eyes, the mean uncorrected distance visual acuity was 0.05 ± 0.09 logMAR; in 37 eyes (70%), it was 20/25 or better; and the mean CDVA was 0.04 ± 0.06 logMAR. Eight eyes (15%) lost 1 logMAR line. The mean SE was -0.13 ± 0.15 D. The mean defocus equivalent was 0.33 ± 0.32 D, with 46 eyes (87%) ≤0.50 D and 52 eyes (98%) ≤1 D. Refractive astigmatism was ≤0.50 D in 48 eyes (90%). The efficacy index was 1.00, and the safety index was 0.98. The mean decentration from the corneal vertex was 0.28 ± 0.07 mm. CONCLUSIONS: The application yielded good predictability, efficacy, and safety. Slower visual recovery was observed after extra surgical manipulations.
Assuntos
Astigmatismo , Cirurgia da Córnea a Laser , Miopia , Humanos , Adulto , Pessoa de Meia-Idade , Astigmatismo/cirurgia , Estudos Retrospectivos , Miopia/cirurgia , Resultado do Tratamento , Lasers de Excimer , Refração Ocular , Substância Própria/cirurgiaRESUMO
We report the first case of refractive corneal lenticule extraction with the femtosecond laser application CLEAR as retreatment technique after previous laser vision correction. A 42-year-old woman, operated by bilateral photorefractive keratectomy (PRK) 19 years previously, with moderate dry eye, came for post-PRK regression and underwent correction of a residual myopia of -3 -0.5 × 159° D in the left eye by CLEAR. Surgery was uneventful, with a regular laser pattern and a normal dissection of the lenticule. At day 1, uncorrected visual acuity was 20/25; at 3 months, it was 20/20, with a refraction of +0.25 × 115° D. The cornea and interface were regular and transparent; no dry eye symptoms occurred. At 3 months, on optical coherence tomography, the treatment was well centered, the surgical interface was centrally regular, whereas the anterior profile of the stromal surface was slightly corrugated, compensated by a smooth epithelial surface. The present case demonstrates that myopia after PRK can be achieved by CLEAR; an irregular stromal surface may occur, not affecting the visual result in virtue of epithelial remodeling.
RESUMO
PURPOSE: To measure the changes in stromal thickness and anterior corneal curvature after corneal lenticule extraction for the correction of myopia and myopic astigmatism with the Corneal Lenticule Extraction for Advanced Refractive correction (CLEAR) application (Ziemer Group). METHODS: The correlations between achieved correction on maximum myopic meridian and stromal thinning and spherical equivalent of achieved correction and anterior corneal flattening were evaluated by optical coherence tomography 6 months after CLEAR in 78 eyes of 78 patients in a retrospective, consecutive, non-comparative case series study. RESULTS: With an optical zone of 6.5 mm (52 eyes), the mean correction achieved was -5.80 ± 1.52 diopters (D) (range: -2.25 to -9.25 D), the mean stromal thinning was 104 ± 15 µm (range: 76 to 138 µm), and the regression line was: µm of thinning = 8.46 ⢠D of correction + 55.25. With an optical zone of 6 mm (26 eyes), the mean correction achieved was -8.33 ± 1.61 D (range: -5.50 to -11.00 D), the mean stromal thinning was 114 ± 12 µm (range: 93 to 144 µm), and the regression line was: µm of thinning = 6.35 ⢠D of correction + 60.92. With 6.5 mm, the mean corneal flattening was 4.27 ± 0.88 D, and the regression line was: D of flattening = 0.50 ⢠D of correction + 1.60. With 6 mm, the mean corneal flattening was 6.40 ± 0.70 D, and the regression line was: D of flattening = 0.37 ⢠D of correction + 2.36. CONCLUSIONS: Stromal thinning and anterior corneal flattening were correlated with the amount of myopic correction in a linear fashion. The thinning was significantly less than predicted by the laser software. [J Refract Surg. 2022;38(12):797-804.].
Assuntos
Hiperopia , Humanos , Estudos Retrospectivos , Hiperopia/cirurgiaRESUMO
PURPOSE: The purpose of this article was to evaluate the prognosis of traumatic flap dislocation or avulsion in a large series of laser-assisted in situ keratomileusis (LASIK) cases. METHODS: Retrospective, consecutive, noncomparative case series analyzes the visual and anatomical results after flap dislocation or avulsion, caused by trauma occurred at least 1 month after LASIK. RESULTS: A total of 37,315 eyes of 19,602 patients were reviewed. A traumatic flap complication was observed in 9 eyes of 9 patients, with a maximum interval of 37 months after surgery. Flap dislocation with central full-thickness folds was found in 5 cases; flap lifting and repositioning achieved a full recovery of uncorrected visual acuity. In another case, a partially detached flap was repositioned by a microsponge without lifting; self-limiting localized epithelial ingrowth followed. In 3 eyes, a complete flap avulsion occurred and, after epithelialization, a moderate refractive change was observed, comprised between -0.25 and -1 diopters (D) of spherical equivalent, with astigmatism <1 D; in 1 eye, the resulting myopia was corrected by repeat femtosecond LASIK. CONCLUSIONS: Traumatic flap complications after femtosecond LASIK are rare but can occur even in the long term; they have a favorable anatomic and visual prognosis.
Assuntos
Ceratomileuse Assistida por Excimer Laser In Situ , Miopia , Substância Própria/cirurgia , Humanos , Ceratomileuse Assistida por Excimer Laser In Situ/efeitos adversos , Ceratomileuse Assistida por Excimer Laser In Situ/métodos , Miopia/cirurgia , Complicações Pós-Operatórias/cirurgia , Refração Ocular , Estudos Retrospectivos , Resultado do TratamentoRESUMO
PURPOSE: Several concerns have arisen with biosimilars in terms of immunogenicity, safety issues, loss of efficacy, and extrapolation to other indications. The study aim was to evaluate the efficacy of SB5, an adalimumab biosimilar, in noninfectious uveitis (NIU). DESIGN: Retrospective nonrandomized study. METHODS: Data from patients with refractory NIU treated with SB5 (Imraldi, Biogen) were analyzed at baseline, 3 months after SB5 initiation and at the last follow-up in terms of uveitis relapses, occurrence of retinal vasculitis, resolution of uveitic macular edema (UME), best-corrected visual acuity, glucocorticoids (GCs)-sparing effect and drug survival. RESULTS: Uveitis relapses decreased from 121 relapses/100 patients/year in the 12 months before SB5 initiation to 4 relapses/100 patients/year during the first 12âmonths of treatment (Pâ=â0.0004). Uveitis was inactive in 46/47 eyes at the end of the study period. The number of eyes with active retinal vasculitis decreased during the study period (Pâ<â0.0001). At baseline, 6 eyes presented UME, whereas no eye had UME at the last follow-up. Mean best-corrected visual acuity increased from 7.7â±â3.41 at baseline to 8.9â±â2.46 at the last follow-up (Pâ=â0.0045). Mean GCs daily dosage decreased from 18.33â±â10.33âmg at baseline to 5.75â±â2.29âmg at the last follow-up (Pâ=â0.018). The cumulative SB5 retention rate was 91.8% at both 12- and 20-month follow-up. CONCLUSIONS: SB5 biosimilar is effective in NIU by drastically reducing uveitis relapses and the occurrence of retinal vasculitis. Moreover, SB5 biosimilar improved visual acuity, allowed a significant GCs-sparing effect and showed an excellent drug retention rate.