Clinical and para-clinical description of a novel mutation for Schnyder dystrophy in a French family.

INTRODUCTION: The objective of this article is to describe the evolution of Schnyder dystrophy in 3 related patients of different ages and to highlight the discovery of a new mutation unidentified until now. CASE REPORT: We present a series of 3 cases, all first-degree relatives with no suggestion of consanguinity, of different ages (30, 40 and 59 years) and two distinct generations (mother and children). Slit lamp examination revealed the same lesions in our three patients: an early-onset corneal arcus senilis, central corneal deposits, and a gray stromal haze in the two oldest subjects. The older the patient, the more numerous and dense were these lesions. The various anterior segment OCTs showed an increase in the number of hyperreflective opacities in the anterior stroma and, in the older subject, the appearance of many posterior shadows. Monitoring of pachymetry by Pentacam® showed progressive age-related thickening. All three patients had dyslipidemia treated with statins or diet alone. In our case we proposed treatment only to subject A because of the significant impact on her visual acuity. DISCUSSION: Numerous clinical, para-clinical and genetic descriptions of this disease are found in the literature. Schnyder dystrophy is rare but not unheard of and may be discovered fortuitously or in the setting of decreased visual acuity. Genetic analysis of our family revealed a mutation of the UBIAD1 gene not described in the literature. UBIAD1 encodes the protein domain-containing UbiA prenyltransferase 1 which converts vitamin K1 into K2 and is involved in the cholesterol synthesis pathway. In the case of a mutation, it is no longer functional, leading to the accumulation of cholesterol crystals. Given the clinical context and the presence of this variant of the reference sequence in all relatives, its pathogenesis is strongly suspected in our family. The originality of our article is to present the progression of the same pathology in 3 patients with the same mutation at different ages and degrees of severity. This notion of progressive worsening and the need to treat late in the majority of cases are found in literature. CONCLUSION: The discovery of a new variant within the UBAID1 gene suggests its pathogenesis in view of the clinical features available to us. The dystrophy is initially asymptomatic before the high number of deposits becomes disabling.

[The Boston keratoprosthesis in the management of corneal blindness: Indications and limitations]. / La kératoprothèse de Boston dans la prise en charge de la cécité cornéenne : intérêts et limites.

INTRODUCTION: Keratoprostheses offer a therapeutic alternative to patients with bilateral corneal blindness who cannot undergo corneal allograft. The goal of this work was to evaluate the indications and limitations of Boston keratoprosthesis. MATERIALS AND METHODS: Seven patients underwent unilateral implantation of a Boston type I keratoprosthesis between December 2012 and November 2016. The following data were collected: surgical indication, preoperative visual acuity, postoperative visual acuity at D1, D7, D30, 6 months and 12 months, complications and postoperative treatment. RESULTS: The mean age of implantation was 58.7±23.4 years. The surgical indications included 1 case of congenital bilateral aniridia, 2 cases of chemical burn and 4 graft decompensations after multiple keratoplasties. Preoperative visual acuity was limited to "light perception" in 6 cases and "hand motion" in one case. A gain in visual acuity was observed in 4 patients, which corresponded to a mean gain of 1.53 logMAR at last follow-up. Postoperative visual acuity averaged 2.33 logMAR. All patients experienced an improvement in their quality of life and independence. DISCUSSION: Patients should be selected carefully, favoring patients with a remaining functional potential and able to engage in close postoperative follow-up, in order to ensure the best possible treatment success. CONCLUSION: Boston keratoprosthesis provides improved vision and improved quality of life for patients suffering from bilateral corneal blindness.

[Autologous serum tears: Long-term treatment in dry eye syndrome]. / Collyres de sérum autologue : traitement à long-terme dans le syndrome sec oculaire.

INTRODUCTION: Dry eye disease is a multifactorial pathology of the ocular surface. The high incidence of this pathology, as well as its significant impact on quality of life and vision and its financial cost, makes it a real public health problem. While the treatment of mild cases is generally simple and effective, treatment of severe forms is often disappointing. The use of autologous serum tears (AST) represents a therapeutic alternative for the most severe cases. The purpose of our study is to evaluate the efficacy of long-term AST treatment in patients with severe dry eye disease refractory to conventional treatment or secondary to systemic diseases such as Sjögren's syndrome or Graft versus Host disease (GVH), or ocular pathologies such as neurotrophic keratitis, chemical burns and ocular cicatricial pemphigoid. PATIENTS AND METHODS: This is a monocentric retrospective observational study conducted on 47 patients, with 83 eyes treated with autologous serum eye drops for isolated or secondary dry eye disease at the Marseille Public Hospitals between April 2014 and April 2017. The patients' subjective symptoms (ocular surface disease index [OSDI] score), their degree of satisfaction and the side effects were collected using questionnaires. Tear Break Up Time (BUT) and Schirmer scores were noted. A clinical evaluation based on fluorescein staining (Oxford score) was carried out prior to treatment with AST at P0 followed by 5 periods: P1 (between 1 and 3 months), P2 (3 to 9 months), P3 (9 to 15 months), P4 (15 months to 24 months), and P5 (>24 months). RESULTS: Out of the 83 eyes treated, the mean age was 54.39±21.56. There were 20 males (42.55 %) and 27 females (57.44 %); treatment indications consisted mainly of 25.53 % GVH, 21.27 % severe dry eye disease and 19.14 % Sjögren syndrome. The mean duration of follow-up was 9.82 months±15.50. The OSDI score decreased by 19.32 points±29.37 (P<0.05) between P0 and P1 and by 23.06 points±18.41 (P<0.05) between P0 and P4. The Oxford clinical score showed a significant decrease by the third month of treatment, between P0 and P2, by 1.32 points±1.76 (P<0.05). The Schirmer test and the BUT also showed an improvement in dry eye symptoms over time with AST, significantly at P1 (P<0.05). DISCUSSION: Complementary biological analyzes on the composition of AST are under way in order to identify predictive factors of effectiveness; patients not responding to AST treatment might respond to allogeneic serum from healthy donor cord blood. CONCLUSION: On this first series of 83 eyes treated with ASD, clinical efficacy was noted in most of the patients. No infectious complications were reported, and the satisfaction rate was very high.

Intraocular pressure measurements and corneal biomechanical properties using a dynamic Scheimpflug analyzer, after several keratoplasty techniques, versus normal eyes.

PURPOSE: To evaluate the biomechanical properties of the cornea and their impact on intraocular pressure (IOP) measurement after lamellar keratoplasty, compared to healthy eyes, using a non-contact tonometer with a Scheimpflug camera. METHODS: This study, from 2014 to 2015, included 22 primary DSAEK, 5 DALK, 6 DSAEK after PK, and 50 control eyes. Using a non-contact tonometer with a high-speed Scheimpflug camera (CORVIS ST, Oculus Optikgeräte GmbH, Wetzlar, Germany), several biomechanical parameters were recorded, including radius at highest concavity (Rhc) and defomation amplitude (DA). Central corneal thickness (CCT) and uncorrected IOP, were also recorded. For the control eyes only, a corrected IOP was calculated, based on age, central corneal thickness, and biomechanical parameters. RESULTS: Rhc was significantly lower after DALK (Rhc=5.54±0.71, P=0.007) and DSAEK (Rhc=6.26±0.77, P=0.042) compared to control eyes (Rhc=6.82±0.76). DA was higher after DALK and DSAEK, but not significantly (respectively 1.24±0.09 P=0.41 and 1.22±0.15, P=0.923) compared to normal eyes (1.18±0.15). Uncorrected IOP was not significantly different between post-keratoplasty and control eyes. In control eyes, the corrected IOP (15.23±1.88) was lower than the uncorrected IOP (16.10±2.34); a statistically significant positive correlation between Rhc and CCT (R2=0.6020, P<0001), and a significant negative correlation between DA and CCT (R2=-0.641, P<0.0001) were found. CONCLUSION: Our study showed that, after lamellar keratoplasty, corneal biomechanics are altered. Corneas with higher ocular rigidity will show a lower DA and a higher Rhc.

[High-irradiance accelerated corneal collagen crosslinking for the treatment of keratoconus: A retrospective study]. / Étude rétrospective concernant le crosslinking cornéen accéléré avec haute irradiance dans le cadre du traitement du kératocône.

PURPOSE: To evaluate the safety and efficacy of accelerated corneal collagen crosslinking on stabilization of progressive keratoconus. MATERIALS AND METHODS: This was a retrospective study from March 2013 to March 2015. Patients with progressive keratoconus who underwent accelerated corneal collagen crosslinking were included. Visual acuity with and without correction, biomicroscopy, corneal elevation topography (maximum and mean keratometry values, minimum pachymetry, densitometry) and side effects were recorded at baseline and at 1, 3 and 6 months (M). RESULTS: One hundred and ten eyes of 84 patients were included. At month 6, we found an improvement in corrected distance visual acuity (CDVA) with a small improvment of 0.069±0.15 logMAR (P=0.009). Uncorrected distance visual acuity remained unchanged. The mean minimum corneal pachymetry was 455µm at baseline and 449µm at m6 (P<0.001). There was no statistically significant difference between pre- and postoperative mean keratometry values (M1, M3, M6). We likewise found no difference in maximum keratometry between pre- and postoperative values at M1, M3 and M6 (P>0.1). With regard to safety, we report 1 case of postoperative infectious keratitis and 1 case of anterior non-granulomatous uveitis after treatment in patients without any known past ocular history. DISCUSSION: The results we found in this study after accelerated corneal crosslinking are similar to those with conventional crosslinking protocols published in the literature. CONCLUSIONS: High irradiance accelerated corneal collagen crosslinking appears to be a reliable and effective therapeutic alternative for progressive keratoconus, allowing for a more brief procedure.

[Effect of donor graft characteristics on clinical outcomes in Descemet stripping automated endothelial keratoplasty (DSAEK)]. / Impact des caractéristiques du greffon cornéen sur les résultats cliniques après Descemet stripping automated endothelial keratoplasty (DSAEK).

INTRODUCTION: The purpose of our study was to evaluate the progression of lamellar corneal grafts after endothelial keratoplasty by Descemet stripping automated endothelial keratoplasty (DSAEK) and the effect of their characteristics on the clinical and functional results. MATERIALS AND METHODS: This was a prospective study in which 74 patients who had undergone endothelial keratoplasty by DSAEK were included. The corneal grafts were obtained from a French tissue bank and were delivered in a preservation medium containing a deturgescent agent (Corneajet® or Stemalpha 3®). Pachymetry of the corneal graft was measured ex vivo by ultrasonic pachymetry prior to dissection, then after the 1st or 2nd cut as necessary. Corrected visual acuity in logMAR, total graft pachymetry, measured by anterior segment OCT (Spectralis® HRA+SDOCT, Heidelberg engineering, Inc., Heidelberg, Germany) and corneal density (Pentacam®, Oculus, Inc., Wetzlar, Germany) were obtained for each patient preoperatively, at D5, M1, M3, M6, M9 and M12. RESULTS: Overall, 74 corneal grafts, from donors of mean age 69.7±13.3 years (37 to 92 years) were transplanted into 67 patients aged 70.3±12.1 years. Predissection pachymetry was statistically significantly thicker in the case of short deturgescence time (r=-0.383, P=0.001). For the same deturgescence time, predissection pachymetry was statistically significantly thicker in the Stemalpha 3® medium (691±89µm for Corneajet® vs. 760±100µm for Stemalpha 3®, P=0.01), with the same final pachymetry (168±31µm vs. 166±25µm, P=0.833). Graft pachymetry and total corneal pachymetry decreased significantly between the preoperative measurement and M12 (168±29µm vs. 92±57µm, P=0.0008 et 665±124µm vs. 566±73µm, P=0.027 respectively). Preoperative endothelial cell density (2938±418 cells/mm2) did not correlate with postoperative visual acuity. There was a positive correlation between visual acuity at D5 and donor age (r=0.3, P=0.04). Postoperative visual acuity correlated positively with preoperative visual acuity (P<0.05). Corneal densitometry was statically higher than normal postoperative densitometry. Corneal density at M1 correlated positively with time since obtaining the donor tissue (r=0.373, P=0.043). There was no significant difference between the sub-groups of over or under 130µm. Seven patients experienced graft failure with no statistically significant graft risk factor. DISCUSSION: The preservation medium affects predissection pachymetry with no consequence on clinical results. In our study, preoperative visual acuity and donor age were correlated with visual acuity after DSAEK. CONCLUSION: Although donor age was associated with better visual acuity at D5, the other donor characteristics had no effect on clinical results.

[Eplerenone treatment in chronic central serous chorioretinopathy]. / Traitement par éplérénone dans la choriorétinite séreuse centrale chronique.

PURPOSE: To evaluate the efficacy of eplerenone, a mineralocorticoid receptor antagonist, in the treatment of chronic central serous chorioretinopathy (CSCR). MATERIALS AND METHODS: We conducted a retrospective study of 27 patients treated with eplerenone for chronic CSCR of at least 3 months duration. For each patient, visual acuity and macular OCT (central retinal thickness, height of foveal subretinal fluid (SRF), central choroidal thickness) were evaluated before treatment and at 1 month and 3 months. In the case of complete disappearance of SRF at 1 month, treatment was discontinued and follow-up was performed at 3 months. RESULTS: Central retinal thickness was 371.6µm (266-573µm) before treatment. A clear decrease in retinal central thickness and height of SRF was observed at 1 month in 74% of patients (20 of 27 patients, central retinal thickness: 322.6µm at 1 month, P=0.01), with improvement of visual acuity in all of these patients. Follow-up at 3 months also found a decrease in SRF and central retinal thickness (294.3µm, P=0.002). Six patients had complete resolution of SRF at 1 month, without recurrence at 3 months. Six other patients had complete resolution of SRF at 3 months. No side effects requiring treatment discontinuation were observed. CONCLUSION: In our study, eplerenone was associated with regression of central retinal thickness and height of SRF. Eplerenone appears to be a safe and effective treatment for chronic CSCR, with a probable mechanism of action on the pathophysiology of this disease.

[Visual acuity, pachymetry and corneal density after 5% sodium chloride treatment in corneal edema after surgery]. / Acuité visuelle, pachymétrie et densité cornéenne après traitement par solution hyperosmolaire au chlorure de sodium 5 % dans l'œdème cornéen postopératoire.

PURPOSE: To evaluate the effectiveness of a hyperosmolar medication in corneal edema. METHODS: This was a prospective randomized study, performed in patients with post-operative corneal edema. Two groups were created: group 1 treated with hypertonic eye drops of 5% sodium chloride with 0.15% sodium hyaluronate in addition to the usual post-operative treatment for 1 month; group 2 without treatment for edema. Visual acuity, pachymetry and corneal density were measured at 1 day, 1 week, 1 month, 3 months and 6 months following surgery. RESULTS: Forty-four patients were included in group 1 and 42 in group 2. Visual acuity was significantly better in group 1 than in group 2 at 7 days (0.84 logMAR vs 1.55 logMAR, P=0.019 CI 95% [-1.298;-0.128]) and was no longer different at one month, three and six months. Pachymetry decreased significantly in 7 days in group 1 (decrease of 17%, P=0.04, CI 95% [1.987; 258.305]), compared to group 2 (P=0.8, CI 95% [-132.9; 161.8]), but the difference between the 2 groups was not statistically significant (P=0.11, CI 95% [-16; 19.1]). Corneal density was also not significantly different between the two groups. CONCLUSION: Five percent sodium chloride hypertonic eye drops show a statistically significant reduction in post-operative corneal edema as shown by the improvement in visual acuity at one week and the downward trend in pachymetry.

[Corneal neovascularisation treatments compared: Subconjunctival bevacizumab injections and/or photodynamic therapy]. / Traitements comparés de la néovascularisation cornéenne : injections sous-conjonctivales de bévacizumab et/ou photothérapie dynamique.

PURPOSE: To evaluate and compare the efficacy of subconjunctival bevacizumab injections alone, photodynamic therapy alone and combined treatments for reduction of corneal neovascularization. METHODS: This study was conducted as a prospective case series. A total of seven eyes of 7 patients with corneal neovascularization caused by ocular surface disorders including fungal infectious keratitis and penetrating keratoplasty were included in the study. Patients were randomized into the three following groups: patients in group A received a single subconjunctival injection of 10mg (0.4mL) of bevacizumab, patients in group B were treated with photodynamic therapy with verteporfin (6mg/m(2)) to the neovascularized area and those in group C received a subconjunctival injection of bevacizumab and photodynamic therapy 7 days later. Morphological changes in neovascularization were evaluated over 6 months using slit-lamp biomicroscopy and digital corneal photography. A computer-assisted semi-automatic analysis of the area of corneal neovascularization was performed with Image J software. RESULTS: Recession of corneal vessels was observed in all eyes at 1 month post-treatment. The neovascularized surface area in all groups combined showed a decrease in the first month after treatment and this decrease continued up to the 6th month. The surface area of corneal neovascularization decreased by 34.05±8.28% in group A (subconjunctival injection of bevacizumab), by 42.06±28.36% in group B (photodynamic therapy with verteporfin) and by 51.67±18.93% in group C (combined subconjunctival injection of bevacizumab and photodynamic therapy). A combined treatment consisting of a subconjunctival injection followed by a PDT session 7 days later might be more effective for the treatment of corneal neovascularisation. No serious local or systemic adverse events were observed. CONCLUSIONS: Our medium-term results suggest that combined subconjunctival injection of bevacizumab and photodynamic therapy with verteporfin might be used safely and effectively to reduce corneal neovascularization surface. This combined therapy may show a tendency toward greater efficacy than the individual monotherapies. Controlled prospective randomized multicentric trials with a larger sample size are necessary to assess long-term efficacy and to confirm these results.