Phenotypic spectrum of granular type II corneal dystrophy (GCD2) in two Italian families presenting an unusual granular type I (GCD1) clinical appearance

Session Details

Session Title: Cornea Medical II

Session Date/Time: Tuesday 13/09/2016 | 08:00-10:30

Paper Time: 10:12

Venue: Hall C3

First Author: : C.Mazzotta ITALY

Co Author(s): :    C. Traversi                    

Abstract Details

Purpose:

To report the clinical, instrumental and genetic findings in Italian families with Type II Granular Corneal Dystrophies (GCD2) presenting an initial unusual presentation of a Granular Type I (GCD1) phenotypic spectrum in female descendants.

Setting:

Cornea Centre, Department of Ophthalmology, Siena University, Italy

Methods:

Two 43 years old women with their 17 years old daughters, underwent a complete ophthalmological examination including slit-lamp bio-microscopy, digital photography, HRT II corneal confocal microscopy, corneal OCT and genetic testing (AGDS™ Avellino Lab USA, Inc., California, USA) for GCD2.

Results:

Slit-lamp examinations showed the typical phenotypic features of GCD2 in both the mothers and a phenotypic appearance of GCD1 in both the daughters. Despite the different phenotypic onset, the genetic diagnostic testing revealed the presence of a mutation in the TGFB-I gene, typical of GCD2 in both cases, excluding GCD1.

Conclusions:

Patients clinically suspected of corneal dystrophy need a genetic confirmatory testing for certain diagnosis. Genetic test may help to find the specific mutation distinguishing between different phenotypic spectra with relative diagnostic and prognostic implications. The phenotypic spectrum of genetically confirmed granular corneal dystrophies in patients may change over time. Since the R124H mutation has also been described in clinically asymptomatic individuals prior to LASIK, who then develop dramatic deposition, suggesting this particular mutation and phenotype may be sensitive to precipitated by central cornea trauma, a careful anamnesis excluding cornel dystrophies and specific preoperative genetic test are recommended prior to LASIK.

Financial Disclosure:

NONE