Corneal alterations in Crisponi/CISS1 syndrome: A slit-lamp biomicroscopy and in vivo confocal microscopy corneal report.

BACKGROUND: Mutations in the cytokine receptor-like factor 1 (CRLF1) gene are responsible for Crisponi/Cold-induced Sweat Syndrome, an extremely rare autosomal-recessive multisystem disorder. The protein encoded is a soluble cytokine receptor, involved in the ciliary neurotrophic factor receptor (CNTFR) pathway. The ciliary neurotrophic factor (CNTF) promotes corneal wound healing and patients with Crisponi/CISS1 syndrome suffer from recurrent keratitis. The aim of the study was to report and discuss the corneal alterations in Crisponi/CISS1 rare disease. MATERIALS AND METHODS: We evaluated the cornea of both eyes in four Crisponi/CISS1 patients to provide a detailed description of slit-lamp biomicroscopy findings. Corneal sensitivity, tears functionality and blinking video recording at rest were also assessed in all patients. Two patients were also evaluated with in vivo confocal microscopy, completed with a needle electromyography of their orbicularis muscles. RESULTS: None of the patients presented a tears dysfunction and video recording documented a prolonged lid excursion in all patients. Slit lamp examination revealed a chronic epithelial impairment in all cases. Needle electromyography of the orbicularis oculi showed a dystonic pattern. The confocal microscopy confirmed the biomicroscopic observed lesions and documented unusual findings of the corneal nerve plexus. CONCLUSIONS: This is the first report of microscopic cornea alterations explored with confocal imaging in Crisponi/CISS1 patients. The observed corneal findings suggest a possible direct correlation to the CNTFR pathway defect and the blinking imbalance could exacerbate the compromised epithelial wound healing. Topical administrations of lubricating eye drops are strongly recommended in these patients.

Balance in subjects with congenital or early onset strabismus: Influence of age.

Few studies have investigated the relationship between strabismus and balance, and those that do exist focused on patients within a limited age range, while no studies on possible age-related changes have yet been conducted. Therefore, the aim of our study was to investigate whether the balance strategies adopted by patients with congenital or early onset strabismus change with age. Forty strabismic patients and 36 healthy subjects were enrolled in the study. Both patients and healthy subjects were divided into three subgroups according to age (children, adolescents, and adults) and underwent a stabilometric evaluation. When we compared the whole group of strabismic patients with the group of healthy subjects, we found that the center of pressure area and the trunk oscillations in the former were significantly different from those in the latter; when we considered the three age groups separately, only values in children with strabismus were different from those in the age-matched control group of healthy subjects. Strabismus was found to affect balance in children by inducing a postural strategy characterized by a reduction in physiological trunk oscillations. Gaining a better insight into postural control in strabismic subjects and its evolution with age may be crucial to improving rehabilitation in such patients and planning tailored rehabilitation treatment.

Methicillin-Resistant Staphylococcus aureus Ocular Infection after Corneal Cross-Linking for Keratoconus: Potential Association with Atopic Dermatitis.

Purpose. To report the risk of methicillin-resistant Staphylococcus aureus (MRSA) ocular infection after UVA-riboflavin corneal collagen cross-linking in a patient with atopic dermatitis. Methods. A 22-year-old man, with bilateral evolutive keratoconus and atopic dermatitis, underwent UVA-riboflavin corneal cross-linking and presented with rapidly progressive corneal abscesses and cyclitis in the treated eye five days after surgery. The patient was admitted to the hospital and treated with broad-spectrum antimicrobic therapy. Results. The patient had positive cultures for MRSA, exhibiting a strong resistance to antibiotics. Antibiotic therapy was modified and targeted accordingly. The intravitreal reaction is extinguished, but severe damage of ocular structures was unavoidable. Conclusion. Riboflavin/UVA corneal cross-linking is considered a safe procedure and is extremely effective in halting keratoconus' progression. However, this procedure is not devoid of infectious complications, due to known risk factors and/or poor patients' hygiene compliance in the postoperative period. Atopic dermatitis is a common disease among patients with keratoconus and Staphylococcus aureus colonization is commonly found in patients with atopic dermatitis. Therefore, comorbidity with atopic dermatitis should be thoroughly assessed through clinical history before surgery. A clinical evaluation within three days after surgery and the imposition of strict personal hygiene rules are strongly recommended.

Migraine and genetic polymorphisms: an overview.

The relationship between genetic polymorphisms and migraine as a cause of an increased risk of thrombotic disorders development is still debated In this respect, factor V Leiden, factor V (H1299R), prothrombin G20210A, factor XIII (V34L), ß-fibrinogen, MTHFR (C677T), MTHFR (A1298C), APO E, PAI-1, HPA-1 and ACE I/D seem to play a determinant role in vascular diseases related to migraine. The present review analyzes both the incidence of the above genetic vascular mutations in migraineurs and the most re-cent developments related to genetic polymorphisms and migraine.