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Jordon G. Lubahn, Vinod V. Mootha; Phenotypic Variability In Hereditary Benign Intraepithelial Dyskeratosis In a Unique Family From Texas. Invest. Ophthalmol. Vis. Sci. 2011;52(14):1086.
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Although originally described in a large family in North Carolina, individuals with HBID have been documented in several parts of the United States and world. A better understanding of the natural progression and molecular basis of this disorder may help develop more rational treatments targeting the pathophysiology.
After introduction to the study proband, subjects were identified and interviews were held to document details of the disease and family lineage. Questionnaires were completed by enrolled family members, and subjects had external face, slit lamp, and oral mucosa examinations.
The family of interest included over 125 individuals from six generations, all born in Texas, 35 of whom were affected. Twenty-four individuals were enrolled and examined with an average age of 26.8 years (range, 3.2 to 70.8 years). Visual acuity averaged 20/30 with all but two subjects having vision of 20/60 or better. Sixteen had the clinical hallmarks of HBID--100% had conjunctival injection and bulbar conjunctival plaques, 75% had evidence of corneal involvement, and 93% had oral mucosal involvement.
Lesions, typically found in the interpalpebral area, were seen even in the youngest patients and seemed to evolve with age. In the younger-aged patients (< 20 years), there were frequently temporal areas of foamy conjunctiva, resembling Bitot spots, and small, wish-bone shaped conjunctival plaques straddling the limbus (Figures A, B). Middle-aged patients had large plaques and lacked the foamy lesions. Many of the middle-aged patients had smaller lesions than their children, which may be evidence of regression in some individuals (Figure C), but there were a few subjects that demonstrated very advanced disease (Figure D). Individuals that had previous ocular surface surgeries often also had very advanced lesions (Figure E). In these advanced cases, the prominent conjunctival and corneal involvement resembled conjunctival carcinoma (Figures D, E). Lissamine green was an effective vital stain used to visualize areas of plaque activity (Figures A'-E').
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