Ocular manifestations in egyptian children and young adults with sickle cell disease.

In sickle cell disease (SCD), ocular lesions result from stasis and occlusion of small eye vessels by sickled erythrocytes. Vaso-occlusive disease of the retina can be responsible for nonproliferative (NPR) and proliferative retinopathy (PR). Patients are often asymptomatic until serious complications arise as, vitreous hemorrhage and retinal detachment. This work aimed to study the frequency and pattern of ocular manifestations in Egyptian children and young adults with SCD. In this cross-sectional study, 40 steady state patients (80 eyes) aged 2-28 years (30 children and 10 young adults) with established diagnosis of SCD (26 with homozygous SS and 14 with S/ß thalassemia underwent complete ophthalmic examination with dilated fundoscopy. Fluorescein angiography was performed for patients ≥12 years old. The overall frequency of retinal lesions was 47.5 % (46.2 and 50 % of SS and S/ß patients respectively). PR and NPR were evident in 32.5 and 27.5 % of all enrolled patients respectively (five patients having both). Peripheral retinal occlusion was a frequent ocular finding in both groups; the youngest patient showing PR was 15 years old. Older age, longer disease duration and splenectomy were significantly more prevalent among patients with PR. Despite lack of visual symptoms, children and young adults are at risk of PR. Frequency of retinal lesions was comparable in SS and S/ß patients. Periodic ophthalmologic examination starting at the age of 12 years is recommended for timely-identification of retinal lesions thus minimizing the risk of sight threatening retinopathy.

A scoring system for the assessment of clinical severity in osteogenesis imperfecta.

INTRODUCTION: Osteogenesis imperfecta (OI) is a genetic disorder characterized by bone fragility and fractures. Patients with OI have clinical features that may range from mild symptoms to severe bone deformities and neonatal lethality. Numerous approaches for the classification of OI have been published. The Sillence classification is the most commonly used. In this study, we aimed at developing a more refined sub-classification by applying a proposed scoring system for the quantitative assessment of clinical severity in different types of OI. SUBJECTS AND METHODS: This study included 43 patients with OI. Clinical examination and radiological studies were conducted for all patients. Cases were classified according to the Sillence classification into types I-IV. The proposed scoring system included five major criteria of high clinical value: number of fractures per year, motor milestones, long bone deformities, length/height standard deviation score (SDS), and bone mineral density (BMD). Each criterion was assigned a score from 1 to 4, and each patient was marked on a scale from 1 to 20 according to these five criteria. RESULTS: Applying the proposed clinical scoring system showed that all 11 patients with Sillence type I (100%) had a score between 6 and 10, denoting mild affection. The only patient with Sillence type II had a score of 19, denoting severe affection. In Sillence type III, 7 patients (31.8%) were moderately affected and 15 patients (68.2%) were severely affected. Almost all patients with Sillence type IV (88.9%) were moderately affected. CONCLUSIONS: Applying the proposed scoring system can quantitatively reflect the degree of clinical severity in OI patients and can be used in complement with the Sillence classification and molecular studies.