Orphanet: Granular corneal dystrophy type II

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Granular corneal dystrophy type II

ORPHA:98963

Classification level: Disorder

Synonym(s):
- Avellino corneal dystrophy
- GCD2
- GCDII
- Granular corneal dystrophy type 2
- Granular-lattice corneal dystrophy
Prevalence: Unknown
Inheritance: Autosomal dominant
Age of onset: Childhood
ICD-10: H18.5
ICD-11: 9A70.Y
OMIM: 607541
UMLS: C1275685
MeSH: C535474
GARD: 9278
MedDRA: -

Summary

Epidemiology

Prevalence of this form of corneal dystrophy is not known. GCDII appears to be more prevalent in Japan, Korea and the USA.

Clinical description

Lesions appear within the first decade of life and may be evident by 3 years of age. Onset is generally earlier in homozygous patients. Pain may accompany mild corneal erosions. Visual acuity usually remains good until late in the course of the condition. The course is slowly progressive but homozygotes may demonstrate more rapid progression.

Etiology

GCDII is caused by a p. Arg124His mutation in the TGFBI gene (5q31).

Diagnostic methods

Opacities are initially small superficial whitish dots. Subsequently, ring or stellate-shaped stromal opacities develop. Final-stage opacities are more superficial and translucent, and may coalesce in the anterior stroma.

Differential diagnosis

Deposits are less numerous than in type I granular corneal dystrophy, and are sometimes lattice-like linear deposits and may superficially resemble lattice corneal dystrophy (see these terms). The features of GCD may be very similar to the corneal features of monoclonal gammopathies (see these terms).

Genetic counseling

Both forms of GCD usually follow an autosomal dominant pattern of inheritance, but sporadic de novo mutations have been reported.

Management and treatment

A penetrating keratoplasty is usually indicated, but superficial stromal opacities can sometimes be ablated without the removal of the entire cornea.

Expert reviewer(s): Dr Gordon KLINTWORTH - Last update: May 2012

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