Correction: The absence that makes the difference: choroidal abnormalities in Legius syndrome.

Correction to: Journal of Human Genetics advance online publication 27 July 2017; https://doi.org/10.1038/jhg.2017.78.

The absence that makes the difference: choroidal abnormalities in Legius syndrome.

Neurofibromatosis type 1 (NF1) is an hereditary disorder characterized by abnormal proliferation of multiple tissues of neural crest origin, and presents mainly with multiple café-au-lait macules, axillary freckling and neurofibromas. Choroidal involvement in NF1 patients has been studied, thanks to the development of non-invasive tools such as infrared monochromatic light during fundus examination, which showed bright patchy lesions consistent with choroidal nodules. Choroidal abnormalities identified with near-infrared reflectance have reported with a frequency of up to 100% in NF1, and have been recently been proposed as a novel diagnostic criterion for NF1. Legius syndrome can be clinically indistinguishable from NF1 and results in a small percentage of individuals being misdiagnosed. We investigated the presence of choroidal abnormalities in Legius syndrome to determine their specificity to NF1 and their potential usefulness as a novel diagnostic criterion for NF1. We examined the fundus of 16 eyes by confocal scanning laser ophthalmoscopy with infrared monochromatic light in eight patients with molecularly confirmed Legius syndrome. No abnormalities were observed, confirming the diagnostic value of choroidal abnormalities for the diagnosis of NF1.

Bilateral Cavernous Carotid Aneurysms: Atypical Presentation of a Rare Cause of Mass Effect. A Case Report and a Review of the Literature.

Bilateral cavernous carotid aneurysms (CCAs) represent a rare medical condition that can mimic other disorders. We present a rare case of bilateral CCAs simulating an ocular myasthenia. A 76-year-old woman presented with a history of fluctuating bilateral diplopia and unilateral ptosis, which led to the suspicion of ocular myasthenia. Magnetic resonance imaging (MRI) and magnetic resonance angiography (MRA) of the brain showed the presence of large bilateral aneurysms of the carotid cavernous tract. After an unsuccessful attempt with steroid therapy, the patient underwent endovascular treatment, with mild improvement. Bilateral CCAs can cause pupil sparing third nerve palsies and other cranial neuropathies which can mimic signs and symptoms of disorders of the neuromuscular junction. Therefore, the possibility of a vascular lesion simulating ocular myasthenia should be considered especially in older patients.

The cornea in classic type Ehlers-Danlos syndrome: macro- and microstructural changes.

PURPOSE: To analyze in vivo corneal morphology and ultrastructural features in patients with classic Ehlers-Danlos syndrome (EDS). METHODS: Fifty patients with classic EDS and 50 age- and sex-matched control subjects were studied. A clinical evaluation was made with the Ocular Surface Disease Index (OSDI) questionnaire and a complete ophthalmic examination, including assessment of the best-corrected visual acuity and refraction, slit-lamp biomicroscopy, tear break-up time, intraocular pressure, Schirmer test without topical anesthesia, and corneal diameter. Scheimpflug camera topography and in vivo confocal microscopy (IVCM) were used to investigate corneal morphology and corneal ultrastructural features respectively. RESULTS: Classic EDS patients, compared to controls, had thinner and steeper corneas (P < 0.001 and P < 0.05, respectively; independent samples t-test). IVCM showed thinner stromas, lower keratocyte densities (P < 0.001), increased applanation-related stromal folds (P < 0.001; Mann-Whitney U test), and increased endothelial hyperreflective dots (P < 0.05) in these patients. The study group also had increased symptoms (OSDI score: P < 0.01, independent samples t-test) and signs (tear break-up time and Schirmer test: P < 0.001 and P < 0.05, respectively) of tear film dysfunction. CONCLUSIONS: Patients with classic EDS had macro- and microstructural changes of the cornea, which is a target tissue of the disease. These findings should be considered to optimize clinical management of these patients and to evaluate the opportunity of adding ocular findings to the classic EDS diagnostic criteria.