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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 1, the mother. Corneal biomicroscopy at 25x magnification shows multiple round, sharply demarcated whitish granular deposits in the central cornea. Stellate opacities, though in numerical inferiority, are also detectable (a). IVCM reveals focal multiple hyperreflective circular deposits with dense aspect (maybe of amyloid origin) surrounding internal multiple irregular hyperreflective spots (maybe of hyaline origin), often surrounding the subepithelial nerve fibers (b and c). Time domain corneal OCT scan provides an overall view of the cornea with topographic detection and depth estimation of hyperreflective deposits (d).
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fig1: Case 1, the mother. Corneal biomicroscopy at 25x magnification shows multiple round, sharply demarcated whitish granular deposits in the central cornea. Stellate opacities, though in numerical inferiority, are also detectable (a). IVCM reveals focal multiple hyperreflective circular deposits with dense aspect (maybe of amyloid origin) surrounding internal multiple irregular hyperreflective spots (maybe of hyaline origin), often surrounding the subepithelial nerve fibers (b and c). Time domain corneal OCT scan provides an overall view of the cornea with topographic detection and depth estimation of hyperreflective deposits (d).

Mentions: A 43-year-old Italian woman was referred to the University Department of Ophthalmology in Siena (Italy) with a clinical diagnosis of GCD2 (Avellino Corneal Dystrophy) who underwent a penetrating keratoplasty (PK) in her right eye 6 years before our visit. Corrected distance visual acuity (CDVA) was 20/40 in the PK eye and 20/30 in the left eye. Slit-lamp examination of the left eye revealed the presence of multiple round, sharply demarcated whitish granular deposits in the central cornea. Stellate opacities, though in numerical inferiority, were also detectable (Figure 1(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 1, the mother. Corneal biomicroscopy at 25x magnification shows multiple round, sharply demarcated whitish granular deposits in the central cornea. Stellate opacities, though in numerical inferiority, are also detectable (a). IVCM reveals focal multiple hyperreflective circular deposits with dense aspect (maybe of amyloid origin) surrounding internal multiple irregular hyperreflective spots (maybe of hyaline origin), often surrounding the subepithelial nerve fibers (b and c). Time domain corneal OCT scan provides an overall view of the cornea with topographic detection and depth estimation of hyperreflective deposits (d).
© Copyright Policy - open-access
Related In: Results  -  Collection

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

fig1: Case 1, the mother. Corneal biomicroscopy at 25x magnification shows multiple round, sharply demarcated whitish granular deposits in the central cornea. Stellate opacities, though in numerical inferiority, are also detectable (a). IVCM reveals focal multiple hyperreflective circular deposits with dense aspect (maybe of amyloid origin) surrounding internal multiple irregular hyperreflective spots (maybe of hyaline origin), often surrounding the subepithelial nerve fibers (b and c). Time domain corneal OCT scan provides an overall view of the cornea with topographic detection and depth estimation of hyperreflective deposits (d).
Mentions: A 43-year-old Italian woman was referred to the University Department of Ophthalmology in Siena (Italy) with a clinical diagnosis of GCD2 (Avellino Corneal Dystrophy) who underwent a penetrating keratoplasty (PK) in her right eye 6 years before our visit. Corrected distance visual acuity (CDVA) was 20/40 in the PK eye and 20/30 in the left eye. Slit-lamp examination of the left eye revealed the presence of multiple round, sharply demarcated whitish granular deposits in the central cornea. Stellate opacities, though in numerical inferiority, were also detectable (Figure 1(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