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Hermansky–Pudlak syndrome (HPS) is characterized by oculocutaneous albinism, excessive bleeding, and often additional symptoms. Variants in ten different genes have been involved in HPS. However, some patients lack variants in these genes. We aimed to identify new genes involved in nonsyndromic or syndromic forms of albinism. Two hundred thirty albinism patients lacking a molecular diagnosis of albinism were screened for pathogenic variants in candidate genes with known links to pigmentation or HPS pathophysiology. We identified two unrelated patients with distinct homozygous variants of the BLOC1S5 gene. Patients had mild oculocutaneous albinism, moderate bleeding diathesis, platelet aggregation deficit, and a dramatically decreased number of platelet dense granules, all signs compatible with HPS. Functional tests performed on platelets of one patient displayed an absence of the obligate multisubunit complex BLOC-1, showing that the variant disrupts BLOC1S5 function and impairs BLOC-1 assembly. Expression of the patient-derived BLOC1S5 deletion in nonpigmented murine Bloc1s5-/- melan-mu melanocytes failed to rescue pigmentation, the assembly of a functional BLOC-1 complex, and melanosome cargo trafficking, unlike the wild-type allele. Mutation of BLOC1S5 is disease-causing, and we propose that BLOC1S5 is the gene for a new form of Hermansky–Pudlak syndrome, HPS-11.

Background Surgeries for idiopathic uveitis and juvenile idiopathic arthritis-associated uveitis in children are complex because of the high risk of inflammatory postoperative complications. There is no consensus about treatment adaptation during the perioperative period. The objectives of this study are to report the therapeutic changes made in France and to determine whether maintaining or stopping immunosuppressive therapies is associated with an increased risk of surgical site infection or an increased risk of uveitis or arthritis flare-up. Methods We conducted a retrospective cohort study between January 1, 2006 and December 31, 2018 in six large University Hospitals in France. Inclusion criteria were chronic idiopathic uveitis or chronic uveitis associated with juvenile idiopathic arthritis under immunosuppressive therapies at the time of the surgical procedure, operated before the age of 16. Data on perioperative treatments, inflammatory relapses and post-operative infections were collected. Results A total of 76 surgeries (42% cataract surgeries, 30% glaucoma surgeries and 16% posterior capsule opacification surgeries) were performed on 37 children. Adaptation protocols were different in the six hospitals. Immunosuppressive therapies were discontinued in five cases (7%) before surgery. All the children in the discontinuation group had an inflammatory relapse within 3 months after surgery compared to only 25% in the other group. There were no postoperative infections. Conclusions The results of this study show varying practices between centres. The benefit-risk balance seems to favour maintaining immunosuppressive therapies during surgery. Further studies are needed to determine the optimal perioperative treatments required to limit post-operative inflammatory relapses.

Albinism is a genetic disorder, present worldwide, caused by mutations in genes affecting melanin production or transport in the skin, hair and eyes. To date, mutations in at least 20 different genes have been identified. Oculo-cutaneous Albinism type IV (OCA4) is the most frequent form in Asia but has been reported in all populations, including Europeans. Little is known about the genotype-phenotype correlation. We identified two main phenotypes via the analysis of 30 OCA4 patients with a molecularly proven diagnosis. The first, found in 20 patients, is clinically indistinguishable from the classical OCA1 phenotype. The genotype-to-phenotype correlation suggests that this phenotype is associated with homozygous or compound heterozygous nonsense or deletion variants with frameshift leading to translation interruption in the SLC45A2 gene. The second phenotype, found in 10 patients, is characterized by very mild hypopigmentation of the hair (light brown or even dark hair) and skin that is similar to the general population. In this group, visual acuity is variable, but it can be subnormal, foveal hypoplasia can be low grade or even normal, and nystagmus may be lacking. These mild to moderate phenotypes are associated with at least one missense mutation in SLC45A2.

Background: Surgeries for idiopathic uveitis and juvenile idiopathic arthritis-associated uveitis in children are complex because of the high risk of inflammatory postoperative complications. There is no consensus about treatment adaptation during the perioperative period. The objectives of this study are to report the therapeutic changes made in France and to determine whether maintaining or stopping immunosuppressive therapies is associated with an increased risk of surgical site infection or an increased risk of uveitis or arthritis flare-up.Methods: We conducted a retrospective cohort study between January 1, 2006 and December 31, 2018 in six large University Hospitals in France. Inclusion criteria were chronic idiopathic uveitis or chronic uveitis associated with juvenile idiopathic arthritis under immunosuppressive therapies at the time of the surgical procedure, operated before the age of 16. Data on perioperative treatments, inflammatory relapses and post-operative infections were collected.Results: A total of 76 surgeries (42% cataract surgeries, 30% glaucoma surgeries and 16% posterior capsule opacification surgeries) were performed on 37 children. Adaptation protocols were different in the six hospitals. Immunosuppressive therapies were discontinued in five cases (7%) before surgery. All the children in the discontinuation group had an inflammatory relapse within 3 months after surgery compared to only 25% in the other group. There were no postoperative infections.Conclusions: The results of this study show varying practices between centres. The benefit-risk balance seems to favour maintaining immunosuppressive therapies during surgery. Further studies are needed to determine the optimal perioperative treatments required to limit post-operative inflammatory relapses.

Background/Objectives: The aim of the study was to compare dacryocystectomy (DCT) versus dacryocystorhinostomy (DCR) in patients with dacryocystitis in terms of tearing complaints. Methods: We conducted a retrospective and comparative study on 19 patients. The main outcome measure was defined as an improvement by 1 point of the Munk score postoperatively. Results: A total of 19 patients were included with 10 in the DCR group and 9 in the DCT group. The primary endpoint was reached in 7 (70%) and in 6 (67%) patients in the DCR and DCT groups, respectively (p > 0.999). All DCR procedures were performed under general anesthesia (GA), while almost all DCT procedures were performed under local anesthesia (LA) (p < 0.001). There was a higher need for hospitalization in the DCR group (p < 0.001). Conclusions: Our preliminary results indicate that DCR is not always the solution in the case of dacryocystitis. DCT is a viable surgical procedure, especially in elderly patients without any tearing complaint and with underlying dry eye disease.

Transoral robotic surgery (TORS) allows minimally invasive surgical access to the oropharynx. Its benefits are well documented for squamous cell carcinomas, but not for salivary carcinomas. The aim of this study was to describe the French experience of TORS regarding salivary gland carcinomas of the base of tongue (BOT). This was a retrospective multicentric study with a national cohort. We included all patients treated surgically for a BOT salivary gland carcinoma from January 2009 to December 2018. Descriptive analyses were performed. Among the 50 patients included, radical excision was performed through an open approach (OA; n  = 33) or using TORS ( n  = 17). T1–T2 tumors were more common in the TORS-group (76.4% vs 60.6%), and so were low-grade tumors (58.8% vs 38.7%). Surgical margins were <1mm in 46.7% of patients in the TORS-group and 52% of patients in the OA-group. After 51.7 months of follow-up, two patients (11.8%) presented with a local recurrence in the TORS-group, versus eight patients (24.2%) in the OA-group. The rate of tracheostomy was 41.2% in the TORS-group and 63.6% in the OA-group. The rate of gastrostomy was 11.8% in the TORS-group and 36.4% in the OA-group. TORS is an acceptable minimally invasive option for selected BOT salivary carcinomas. It may provide good functional and oncological outcomes in selected cases, despite a high rate of close margins.