Anette Dellby

In Vivo Morphology of the Limbal Palisades of Vogt Correlates With Progressive Stem Cell Deficiency in Aniridia-Related Keratopathy

PURPOSE To investigate morphologic alterations in the limbal palisades of Vogt in a progressive form of limbal stem cell deficiency. METHODS Twenty Norwegian subjects (40 eyes) with congenital aniridia and 9 healthy family members (18 eyes) without aniridia were examined. Clinical grade of aniridia-related keratopathy (ARK) was assessed by slit-lamp biomicroscopy, and tear production and quality, corneal thickness, and sensitivity were additionally measured. The superior and inferior limbal palisades of Vogt and central cornea were examined by laser scanning in vivo confocal microscopy (IVCM). RESULTS In an aniridia patient with grade 0 ARK, a transparent cornea and normal limbal palisade morphology were found. In grade 1 ARK, 5 of 12 eyes had degraded palisade structures. In the remaining grade 1 eyes and in all 20 eyes with stage 2, 3, and 4 ARK, palisade structures were absent by IVCM. Increasing ARK grade significantly correlated with reduced visual acuity and corneal sensitivity, increased corneal thickness, degree of degradation of superior and inferior palisade structures, reduced peripheral nerves, increased inflammatory cell invasion, and reduced density of basal epithelial cells and central subbasal nerves. Moreover, limbal basal epithelial cell density and central corneal subbasal nerve density were both significantly reduced in aniridia compared to healthy corneas (P = 0.002 and 0.003, respectively). CONCLUSIONS Progression of limbal stem cell deficiency in aniridia correlates with degradation of palisade structures, gradual transformation of epithelial phenotype, onset of inflammation, and a corneal nerve deficit. IVCM can be useful in monitoring early- to late-stage degenerative changes in stem cell-deficient patients.

Dystrophia Helsinglandica: a new type of hereditary corneal recurrent erosions with late subepithelial fibrosis

Purpose:  To describe the phenotype of an autosomal‐dominant corneal dystrophy with an early onset of recurrent corneal erosions and development of subepithelial fibrosis in the cornea, and also to exclude genetic linkage to known corneal dystrophies with autosomal‐dominant inheritance and clinical resemblance.

A new corneal disease with recurrent erosive episodes and autosomal-dominant inheritance

Purpose:  The aim of this study was to characterize the phenotype in a large family with autosomal‐dominant recurrent corneal erosions, and also to exclude genetic linkage to known autosomal‐dominant inherited corneal dystrophies with clinical resemblance.

Dystrophia Smolandiensis: a novel morphological picture of recurrent corneal erosions

Purpose:  The aim of this study was to describe morphological changes in Dystrophia Smolandiensis, a corneal disease that is characterized by recurrent corneal erosive episodes and the formation of central corneal keloid‐like opacities in approximately half of those affected.

Dystrophia Helsinglandica - corneal morphology, topography and sensitivity in a hereditary corneal disease with recurrent erosive episodes

Purpose:  The aim of this study was to describe the morphology, corneal topography and sensitivity in individuals with Dystrophia Helsinglandica. This autosomal dominant corneal disease is characterized by recurrent corneal erosive episodes and progressive subepithelial fibrosis not significantly affecting visual acuity.

In Vivo Confocal Microscopy of the Cornea in Darier-White Disease

Darier-White disease (also known as Darier disease or keratosis follicularis spinulosa decalvans) is a rare dominantly inherited skin disorder characterized by firm, scaly, cutaneous papules and plaques distributed over various regions of the body. Histopathologic and electron microscopic studies of biopsied skin specimens have revealed a loss of cell to cell adhesion and abnormal differentiation of the epidermis. Ocular involvement in DarierWhite disease has been observed, with eyelid and corneal abnormalities being reported. To date, however, examination of corneal abnormalities in Darier-White disease has been limited to slitlamp observation and microscopic examination of superficial peripheral biopsy samples in cases with confirmed corneal abnormalities. In this article we use in vivo confocal microscopy to describe the general corneal morphological features present in 5 members (4 affected and 1 unaffected) of a 5-generation, 32member, Swedish family with DarierWhite disease, 15 of whom are affected. All 5 individuals had good vision without ocular symptoms or history of contact lens wear, and no corneal abnormalities were apparent on slitlamp examination. Using in vivo laser-scanning confocal microscopy (HRT3-RCM; Heidelberg Engineering, Heidelberg, Germany), irregularities in the epithelium, nerves, and anterior stroma were observed in all affected individuals. Documenting corneal abnormalities that, on occasion, have been associated with severe photophobia and corneal clouding may be useful in elucidating the pathogenesis of corneal changes in this rare disease.