Validation and Repeatability of the Epidermolysis Bullosa Eye Disease Index in Dystrophic Epidermolysis Bullosa.

Purpose: Dystrophic epidermolysis bullosa (DEB) is a devastating condition that causes painful corneal abrasions and vision loss. Epidermolysis Bullosa Eye Disease Index (EB-EDI) for the first time captures and quantifies EB-specific assessment of ocular symptoms and activities of daily living scales. This survey will become critical in developing new interventions on patients' quality of life.

Lemierre syndrome associated mycotic cavernous sinus thrombosis and carotid aneurysm after COVID-19.

Purpose: The purpose of this article is to report a case of Lemierre syndrome associated mycotic aneurysm of the intracavernous carotid artery leading to cavernous sinus syndrome in an otherwise healthy, young man in the setting of COVID-19 infection.

Observations: An 18-year-old, otherwise healthy male athlete developed fever, chills, and headache and was found to be positive for COVID-19 with gram negative bacteremia. While on systemic antibiotic treatment, he developed acute, left-sided, 6th nerve palsy and was found to have bacterial sinusitis, left-sided intracavernous mycotic aneurysm, and cavernous sinus thrombosis on imaging studies.

Corneal Changes and Strategies to Improve Survival of Hypomorphic Collagen VII-Deficient Mice for the Study of Ocular Dystrophic Epidermolysis Bullosa.

Ophthalmic study of collagen CVII hypomorphic mice is uniquely challenging due to the strain's published survival rate to weaning of 24%. Because chronic ocular fibrosis requires time to develop, optimizing the survival rate is of critical importance. In this study, standard husbandry practices were enhanced by the addition of sterilized diet and drug delivery gels, acidified water, irradiated food pellets, cellulose fiber bedding, minimal handling, removal of siblings within 2-3 wk from birth, and a preferred housing location.

Anterior-segment spectral domain optical coherence tomography in epidermolysis bullosa.

Purpose: Assess epidermolysis bullosa (EB)-related corneal pathology using anterior segment optical coherence tomography (AS-OCT) and correlate imaging with clinical metrics in EB patients versus age-matched controls.

Methods: EB patients and controls were recruited during an EB conference (July 2018) and at Tufts Medical Center (June-August 2019). Subjects completed a questionnaire, had best corrected visual acuity (BCVA) tested, and underwent AS-OCT scanning.

Extended Wear Bandage Contact Lenses Decrease Pain and Preserve Vision in Patients with Epidermolysis Bullosa: Case Series and Review of Literature.

: To demonstrate the therapeutic benefit of extended wear bandage contact lens (BCL) use in patients with epidermolysis bullosa (EB) suffering from recurrent, painful, and slow-to-heal corneal epithelial defects.: Case reports of three patients.: We report ophthalmic treatment of three pediatric patients, two with recessive dystrophic EB (RDEB) and one with junctional EB (JEB), who suffered frequently recurrent corneal abrasions and were treated with 30-day extended-wear bandage contact lenses (BCLs), replaced every month for at least 1 year.

Collagen VII deficient mice show morphologic and histologic corneal changes that phenotypically mimic human dystrophic epidermolysis bullosa of the eye.

Background: Absence of collagen VII causes blistering of the skin, eyes and many other tissues. This disease is termed dystrophic epidermolysis bullosa (DEB). Corneal fibrosis occurs in up to 41% and vision loss in up to 64% of patients.

Retinal telangiectasis detected during a vision screening examination in a child with hearing loss led to the diagnosis of facioscapulohumeral muscular dystrophy.

A 2-year-old girl with congenital sensorineural hearing loss was found to have retinal exudation and subretinal fluid in her left eye. Further investigation revealed leaking retinal telangiectasias in her left eye and extensive areas of peripheral retinal nonperfusion in both eyes. A clinical diagnosis of facioscapulohumeral muscular dystrophy (FSHD) was confirmed by genetic testing.

Ocular misalignment in Graves disease may mimic that of superior oblique palsy.

Background: The Parks-Bielschowsky three-step test (TST) can incorrectly indicate that a superior oblique muscle is paretic in patients with restrictive strabismus. Although this pitfall in diagnosis has been widely reported, no large studies have examined the incidence of a positive TST in patients with Graves disease.

Methods: We performed a retrospective chart review of 31 consecutive patients with Graves orbitopathy examined at Children's Hospital of Boston from 2003 to 2007.