A second individual with rhizomelic spondyloepimetaphyseal dysplasia and homozygous variant in GNPNAT1

Spondyloepimetaphyseal dysplasias (SEMDs) belong to a clinically and genetically heterogeneous group of inherited skeletal disorders defined by a defect in the growth and shape of vertebrae, epiphyses and metaphyses. Rhizomelic SEMD is characterized by a disproportionate small stature caused by severe shortening and deformation of the limbs’ proximal bones, with the cranio-facial sphere unaffected. We report a second individual, an 8-year-old girl, with autosomal recessive rhizomelic SEMD associated with a homozygous exonic missense variant, c.226G > A p.(Glu76Lys), in GNPNAT1 identified by trio genome sequencing. Our data corroborate the recent findings of Ain et al. and further delineate the clinical and radiographic features of this form of SEMD associated with rhizomelic dysplasia while outlining a potential hotspot in this newly described genetic disorder.     

Topical glaucoma medications – Clinical implications for the ocular surface

Glaucoma is a leading cause of irreversible blindness. The use of topical eye drops to reduce intraocular pressure remains the mainstay treatment. These eye drops frequently contain preservatives designed to ensure sterility of the compound. A growing number of clinical and experimental studies report the detrimental effects of not only these preservatives but also the active pharmaceutical compounds on the ocular surface, with resultant tear film instability and dry eye disease. Herein, we critically appraise the published literature exploring the effects of preservatives and pharmaceutical compounds on the ocular surface.     

The role of funduscopy in severe thrombocytopenia: A prospective study

PurposePlatelet transfusions for patients suffering from severe thrombocytopenia are regulated by clinical bleedings and platelet counts. The aim of this study was to assess the prevalence of retinal hemorrhage in patients with hematologic and oncologic malignancies and severe thrombocytopenia, and to determine the benefit of systematic funduscopic examination in this setting.Materials and methodsHospitalized patients with hematologic and oncologic malignancies having a platelet count less than 25,000 per μL underwent indirect ophthalmoscopy. The prevalence of retinal hemorrhage and its correlation with different patients’ characteristics were determined. The decision to transfuse platelets or not following bedside indirect ophthalmoscopy was left at the discretion of the treating physician.ResultsA total of 34 severe thrombocytopenic patients were included in the study. The prevalence of retinal hemorrhage was detected in 10 patients (29.4%). No significant correlation was found between the occurrence of retinal hemorrhage and age, platelet count or thrombocytopenia etiology (P > 0.05). No significant difference was found concerning the rate of transfusion between those with and without retinal hemorrhage.ConclusionAccording to our statistical results, retinal hemorrhage is a frequent finding in severely thrombocytopenic patients. Early detection may lead to an increase in the platelet transfusion threshold from to 30,000 per μL offering additional protection against spontaneous bleedings. Funduscopy is a safe and easy exam to perform systematically in patients with severe thrombocytopenia.