Limits...
Phenotypic Spectrum of Granular Corneal Dystrophy Type II in Two Italian Families Presenting an Unusual Granular Corneal Dystrophy Type I Clinical Appearance.

Mazzotta C, Traversi C, Baiocchi S, Barabino S, Mularoni A - Case Rep Ophthalmol Med (2015)

Bottom Line: 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.Genetic test may help to find the specific mutation distinguishing between different phenotypic spectra with relative diagnostic and prognostic implications.Since the R124H mutation has also been described in clinically asymptomatic individuals prior to LASIK, who then develop dramatic deposition, suggesting that this particular mutation and phenotype may be sensitive to, precipitated, or modified by central cornea trauma, a careful familial anamnesis excluding cornel dystrophies and specific preoperative genetic test are recommended prior to LASIK.

View Article: PubMed Central - PubMed

Affiliation: Ophthalmic Operative Unit, Siena University Hospital, Viale Bracci, 53100 Siena, Italy.

ABSTRACT
Clinical, instrumental, and genetic findings are reported in Italian families with Type II Granular Corneal Dystrophies (GCD2) presenting an initial unusual presentation of a Granular Corneal Dystrophy Type I (GCD1) phenotypic spectrum in female descendants. Slit-lamp examinations showed the typical phenotypic features of GCD2 in both mothers and a phenotypic appearance of GCD1 in both 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. Patients who were 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 study demonstrates that 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 that this particular mutation and phenotype may be sensitive to, precipitated, or modified by central cornea trauma, a careful familial anamnesis excluding cornel dystrophies and specific preoperative genetic test are recommended prior to LASIK.

No MeSH data available.


Related in: MedlinePlus

Genetic family trees of case 1 (a) and case 2 (b). The continuous black arrows indicate the mothers and the dotted black arrows indicate the daughters.
© Copyright Policy - open-access
Related In: Results  -  Collection


getmorefigures.php?uid=PMC4499619&req=5

fig3: Genetic family trees of case 1 (a) and case 2 (b). The continuous black arrows indicate the mothers and the dotted black arrows indicate the daughters.

Mentions: After specific consent subscription for human genetic examination, both family members underwent genetic diagnostic testing by AGDS Avellino Gene Detection System (Avellino Lab USA, Inc., Menlo Park, San Francisco, CA). After genetic testing requests including patients' clinical information, samples from the inside of both cheeks to capture sufficient cells on the collection swabs were collected. Samples were stored in refrigerator one day and sent for the analysis by courier to Avellino Lab USA, Inc., San Francisco, CA. After DNA extraction for GCD2 mutation test, the results showed that the mother was positive for GCD2, as a heterozygous carrier of the Arg124His mutation of the TGFB-I gene on chromosome 5 (genetic locus 5q31). Moreover, her daughter was found to be a carrier of the same mutation on the same gene (Figure 3(a)).


Phenotypic Spectrum of Granular Corneal Dystrophy Type II in Two Italian Families Presenting an Unusual Granular Corneal Dystrophy Type I Clinical Appearance.

Mazzotta C, Traversi C, Baiocchi S, Barabino S, Mularoni A - Case Rep Ophthalmol Med (2015)

Genetic family trees of case 1 (a) and case 2 (b). The continuous black arrows indicate the mothers and the dotted black arrows indicate the daughters.
© Copyright Policy - open-access
Related In: Results  -  Collection

Show All Figures
getmorefigures.php?uid=PMC4499619&req=5

fig3: Genetic family trees of case 1 (a) and case 2 (b). The continuous black arrows indicate the mothers and the dotted black arrows indicate the daughters.
Mentions: After specific consent subscription for human genetic examination, both family members underwent genetic diagnostic testing by AGDS Avellino Gene Detection System (Avellino Lab USA, Inc., Menlo Park, San Francisco, CA). After genetic testing requests including patients' clinical information, samples from the inside of both cheeks to capture sufficient cells on the collection swabs were collected. Samples were stored in refrigerator one day and sent for the analysis by courier to Avellino Lab USA, Inc., San Francisco, CA. After DNA extraction for GCD2 mutation test, the results showed that the mother was positive for GCD2, as a heterozygous carrier of the Arg124His mutation of the TGFB-I gene on chromosome 5 (genetic locus 5q31). Moreover, her daughter was found to be a carrier of the same mutation on the same gene (Figure 3(a)).

Bottom Line: 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.Genetic test may help to find the specific mutation distinguishing between different phenotypic spectra with relative diagnostic and prognostic implications.Since the R124H mutation has also been described in clinically asymptomatic individuals prior to LASIK, who then develop dramatic deposition, suggesting that this particular mutation and phenotype may be sensitive to, precipitated, or modified by central cornea trauma, a careful familial anamnesis excluding cornel dystrophies and specific preoperative genetic test are recommended prior to LASIK.

View Article: PubMed Central - PubMed

Affiliation: Ophthalmic Operative Unit, Siena University Hospital, Viale Bracci, 53100 Siena, Italy.

ABSTRACT
Clinical, instrumental, and genetic findings are reported in Italian families with Type II Granular Corneal Dystrophies (GCD2) presenting an initial unusual presentation of a Granular Corneal Dystrophy Type I (GCD1) phenotypic spectrum in female descendants. Slit-lamp examinations showed the typical phenotypic features of GCD2 in both mothers and a phenotypic appearance of GCD1 in both 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. Patients who were 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 study demonstrates that 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 that this particular mutation and phenotype may be sensitive to, precipitated, or modified by central cornea trauma, a careful familial anamnesis excluding cornel dystrophies and specific preoperative genetic test are recommended prior to LASIK.

No MeSH data available.


Related in: MedlinePlus