A Laborante1, C Longo, P De Bonis, L Bisceglia. 1. Ophthalmology Unit and Medical Genetics Unit, Hospital Casa Sollievo della Sofferenza - IRCCS, S. Giovanni Rotondo, Italy. antoniolaborante@virgilio.it
Abstract
PURPOSE: To report clinical findings and molecular defect in three subjects affected by Biber-Haab-Dimmer dystrophy or Lattice Corneal Dystrophy Type I (LCD1), a corneal dystrophy transmitted as an autosomal dominant tract. MATERIALS AND METHODS: Three subjects underwent a complete ophthalmic examination and confocal microscopy study. Following the collection of DNA from the patients, the TGFBI gene was screened for mutations by direct sequencing. RESULTS: Confocal microscopy study revealed that the opacity typical of the disease was assembled in the axial region of the cornea. The causative TGFBI mutation p.Val631Asp was identified in all subjects. CONCLUSIONS: The finding of the p.Val631Asp mutation responsible for this form of LCD-Variant highlights the utility of molecular genetic analysis of the TGFBI gene in order to offer early diagnosis. These results provide more data for molecular diagnosis and prognosis of this clinical and genetic heterogeneous disease.
PURPOSE: To report clinical findings and molecular defect in three subjects affected by Biber-Haab-Dimmer dystrophy or Lattice Corneal Dystrophy Type I (LCD1), a corneal dystrophy transmitted as an autosomal dominant tract. MATERIALS AND METHODS: Three subjects underwent a complete ophthalmic examination and confocal microscopy study. Following the collection of DNA from the patients, the TGFBI gene was screened for mutations by direct sequencing. RESULTS: Confocal microscopy study revealed that the opacity typical of the disease was assembled in the axial region of the cornea. The causative TGFBI mutation p.Val631Asp was identified in all subjects. CONCLUSIONS: The finding of the p.Val631Asp mutation responsible for this form of LCD-Variant highlights the utility of molecular genetic analysis of the TGFBI gene in order to offer early diagnosis. These results provide more data for molecular diagnosis and prognosis of this clinical and genetic heterogeneous disease.