ERN EYE

Abstract Purpose Despite progress in management of open‐angle glaucoma, early diagnosis remains difficult due to delayed ophthalmologist consultation. Early glaucoma treatment avoids vision loss, thus developing automated detection methods is of importance for public health. We used supervised machine learning models on medical insurance claims data to identify at‐risk patient profiles that would benefit from undergoing glaucoma diagnosis, leading to early detection. Methods Using medical claims records from a Swiss health insurance company, we identified a “glaucoma group” composed by 2700 patients (18–65 yo) with at least 3 years of historical data in the database and at least one year of medications for lowering intraocular pressure. To complete the training dataset, we randomly selected a “non‐glaucoma control group” ( N = 2700) with same age range and medical criteria. Random Forest models were then trained using patient medical consumption data (e.g. number of drugs, number of consultations, ocular tests) in order to estimate individual’s probability of having glaucoma based on medical claims records. Population was split into training set (70%) and test set (30%) to estimate the model prediction performance. Results The mean age of population with glaucoma was 55.3 (SD: 11.3), and had an average of 1.96 (SD: 2.8) eye visits within the 3 years period prior to their first glaucoma prescription. t‐test showed significant association between consumption of eye products (e.g. artificial tears) during the two years prior to glaucoma medication. The Random Forest classifier accuracy computed on the test set ( N = 1600) showed a positive predictive value of 78.5%, a negative predictive value of 79.2%. Sensitivity and specificity were of 79.4% and 77.2% respectively. Conclusions To our knowledge, this study is the first to attempt estimating glaucoma probabilities from medical consumption invoice data. Our preliminary results show that using supervised machine learning algorithms could identify high‐risk patient profiles of glaucoma with an accuracy of almost 80%. These patients may benefit from an early ocular examination. Automated screening based on medical claims data could thus allow improving open‐angle glaucoma‐related health outcomes, minimizing serious vision loss, and reducing health costs.

Abstract Purpose To describe the surgical technique and to assess the outcomes in pediatric patients who underwent tectonic lamellar sclerokeratoplasty using full‐thickness central corneal grafts to treat malformative, invasive and inflammatory limbal insufficiency. Methods Retrospective, multicenter, non‐comparative analysis of a consecutive interventional case series including five pediatric cases of progressive limbal insufficiency from various severe malformative and inflammatory cause. All patients underwent tectonic lamellar sclerokeratoplasty using full‐thickness central corneal grafts under general anesthesia. Progression of limbal insufficiency after surgery, preoperative and postoperative visual acuity and perioperative complications were recorded retrospectively from patient medical records and external eye imaging. Minimum post‐operative follow‐up was 6 months for each patient. Results In total, 5 children with severe limbal insufficiency from various etiologies were included. Mean age at surgery was 5.6 yo (range 5 w to 11 yo). Four (80%) had severe progressive and invasive choristomas and one (20%) presented a severe case of epidermolysis bullosa. Two cases (40%) showed a stabilization of the postoperative visual acuity, other cases had non‐quantifiable visual acuity due to various reasons. Four cases (80%) presented a stabilization of the limbal insufficiency and corneal opacification. Two cases (40%) of corneal graft opacification without consequences on visual acuity were noted. One case (20%) of corneal graft infection was followed by limbal insufficiency recurrence. A second procedure for recurrence was performed in one case (20%). Conclusions Using full‐thickness central corneal grafts in lamellar sclerokeratoplasty for severe malformative, invasive and inflammatory limbal insufficiency cases seems to help reducing progression. In most of the cases, stable visual acuity was maintained or visual axis preserved, with limited postoperative complications.

Case: We report the sperm characteristics of a male patient who developed, when he was 18 years old, a Leber hereditary optic neuropathy, a hereditary optic neuropathy due to mtDNA mutation as well as variants in the nuclear DNA. At the age of 30 years-old, he complained of infertility lasting for 2 years. Semen analyses showed low motility spermatozoa and a high percentage of morphological or ultrastructural abnormalities. Levels of epididymal markers were strongly atypical. Idebenone was prescribed as treatment of his Leber hereditary optic neuropathy in order to improve his visual acuity. After 5 months of this treatment, motility of spermatozoa increased, and their vitality improved. A natural conception occurred. Outcome: This case is the first description of an anomaly of spermatozoas and of the epididymis epithelium in a patient with Leber hereditary optic neuropathy. It draws attention to sperm pathologies in patients with mitochondrial disorders. The role of the mtDNA mutations must be suspected since it plays an important role in the development and motility of spermatozoa. In addition, idebenone can by-pass the complex I and transfer electrons to complex III. It has been suspected to have a favorable effect on spermatogenesis. Conclusion: This case confirms the possibility of sperm dysfunction in Leber hereditary optic neuropathy and the interest of idebenone as a treatment for infertility due to mtDNA mutations in human.

Abstract Purpose Congenital aniridia is a panocular disease with congenital absence of iris. Congenital Aniridia affects, beyond iris, cornea, angle structures, lens and fovea, and possibly associated with other anomalies. This genetic rare disease can cause severe visual impairment occurring from various mechanisms as glaucoma, limbal insufficiency and foveal hypoplasia. PAX6 gene is mainly involved in the disease. We aim to understand the features of patients with congenital aniridia and strabismus from 1 yo to 30 yo, identifying the characteristics of oculomotor anomalies. Methods We analyse our 330 aniridia patients cohort in a retrospective study to identify patient with a good fixation and minimal cooperation. All patients underwent history of the disease, a complete ocular examination with ophthalmic exploration, orthoptic and had genetic molecular analysis. Results Of the 330 subjects cohort, 36 patients, 23 females and 13 males (range 1 yo to 30 yo) were identified and diagnosed with strabismus with mean age of 11.02 yo. A family history was reported in 55% of the patients. Marked nystagmus was present in 69% of the cases. Foveal hypoplasia from Thomas classification, was observed in all patients and Grade IV in 86% of cases. Esotropia was observed in 38.8%, exotropia in 36.1% and hypertropia in 5.5%. Associated congenital cataract is described and worsened the strabismus. Conclusions Our study demonstrated a high frequency of strabismus in congenital aniridia. Marked nystagmus and associated congenital cataract worsened the strabismus treatment. In this rare disease, further studies are required for the follow‐up of aniridia patients in order to get better therapeutic options.

Abstract Purpose Blinking rate is an essential physiopathological mechanism aiming to maintain a quality tear film layer for ocular surface. The blinking rate may vary with age, environment, medications, ocular surface conditions or anomalies and individuals. Various studies demonstrated how dry eye the most common ocular surface anomaly affects the blinking rate. As we know dry eye is a common pathology in general population, we included healthy volunteers. Our aim is to study blinking rate with connected glasses in healthy volunteers with dry eye and non‐dry eye anomalies. Methods In our study, we selected and included 20 healthy volunteers with 40 eyes (of 25) with signed informed consent, from 10 to 40 yo (mean age 25,5 yo) assessing some of the volunteers may present dry eye anomalies. A signed consent was obtained according to legal regulation. A complete ocular examination was performed including automated NIBUT and Meibography with Lacrydiag (Quantel). The volunteers accepted to wear the connected glasses “Prudensee” (Ellcie Healthy) during one hour in practical day life. Then the collected data were analyzed with an algorithm. The connected glasses integrate an infrared oculometer that measures blinking rate. They also integrate a gyroscope and an accelerometer useful for head speed however mt used in the study. Results Of the 20 subjects, 9 were diagnosed with mild to moderate dry eye anomalies. The blinking rate was significantly increased of 36% comparing to the 11 subjects with no ocular surface anomalies. Blinking rate measured was increased statistically significative in the 3 groups of age 10–20 yo, 20–30 yo and 30–40 yo and a marked trend in dry eye subjects. Conclusions Our study demonstrated an increase in blinking rate in subjects with dry eye anomalies. Further studies with connected glasses are needed to evaluate blinking rate in various anomalies of ocular surface with larger number of subjects.