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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

Case 2, the daughter. Slit-lamp examination shows the presence of few and very tiny patchy stromal opacities, without stellate and linear opacities at onset (a). IVCM scans show the presence of granular hyperreflective spots without complex deposits among the subepithelial nerve fibers and circular hyperreflective deposits (amyloid) surrounding an internal hyporeflective core (hyaline) in the anterior stroma (b and c). Time domain OCT corneal scans provided a wide visualization of the cornea revealing the topographic localization and the depth of corneal deposits (d).
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fig5: Case 2, the daughter. Slit-lamp examination shows the presence of few and very tiny patchy stromal opacities, without stellate and linear opacities at onset (a). IVCM scans show the presence of granular hyperreflective spots without complex deposits among the subepithelial nerve fibers and circular hyperreflective deposits (amyloid) surrounding an internal hyporeflective core (hyaline) in the anterior stroma (b and c). Time domain OCT corneal scans provided a wide visualization of the cornea revealing the topographic localization and the depth of corneal deposits (d).

Mentions: Her 17-year-old daughter presented only few granular deposits (without linear or stellate appearance) in her right eye at biomicroscopic examination (Figure 5(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)

Case 2, the daughter. Slit-lamp examination shows the presence of few and very tiny patchy stromal opacities, without stellate and linear opacities at onset (a). IVCM scans show the presence of granular hyperreflective spots without complex deposits among the subepithelial nerve fibers and circular hyperreflective deposits (amyloid) surrounding an internal hyporeflective core (hyaline) in the anterior stroma (b and c). Time domain OCT corneal scans provided a wide visualization of the cornea revealing the topographic localization and the depth of corneal deposits (d).
© Copyright Policy - open-access
Related In: Results  -  Collection

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getmorefigures.php?uid=PMC4499619&req=5

fig5: Case 2, the daughter. Slit-lamp examination shows the presence of few and very tiny patchy stromal opacities, without stellate and linear opacities at onset (a). IVCM scans show the presence of granular hyperreflective spots without complex deposits among the subepithelial nerve fibers and circular hyperreflective deposits (amyloid) surrounding an internal hyporeflective core (hyaline) in the anterior stroma (b and c). Time domain OCT corneal scans provided a wide visualization of the cornea revealing the topographic localization and the depth of corneal deposits (d).
Mentions: Her 17-year-old daughter presented only few granular deposits (without linear or stellate appearance) in her right eye at biomicroscopic examination (Figure 5(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