Granular corneal dystrophy type II

Classification according to ICD-10
H18.5	Hereditary corneal dystrophies
ICD-10 online (WHO version 2019)

The granular corneal dystrophy type II is a very rare congenital form of granular corneal dystrophy with irregularly shaped, well defined granular deposits centrally in the superficial stroma of the cornea and progressive reduction in visual acuity.

Granular corneal dystrophy type II, different sized crumb-like opacities in the corneal stroma, confluent to streaky and jagged shapes

Synonyms are: GCD2; Avellino dystrophy; Corneal dystrophy type Avellino; Corneal dystrophy, granular-latticed; English Combined Granular-Lattice Corneal Dystrophy; Granular Corneal Dystrophy, Type II;

The first description comes from the year 1988 by the American ophthalmologist Robert Folberg and colleagues.

The name "Avellino" refers to the place of origin Avellino of the family in which this disease was first observed.

distribution

The frequency is unknown and the disease is common in Japan , Korea, and the United States . The inheritance is autosomal dominant .

root cause

The disease are mutations in TGFBI - gene on chromosome 5 locus q31.1 based encoding keratoepithelin.

Clinical manifestations

Clinical criteria are:

• Disease manifestation within the first 10 years of life
• earlier onset in homozygous disease
• sometimes linear or grid-like deposits in the cornea, less numerous than in granular corneal dystrophy type I.
• sometimes painful erosions of the cornea
• only slow progress
• eyesight well preserved for a long time

Differential diagnosis

The other forms of granular corneal dystrophy are to be distinguished , but also monoclonal gammopathy .

literature

• EJ Lee, KJ Kim, HN Kim, J. Bok, SC Jung, EK Kim, JY Lee, HL Kim: Genome-wide scan of granular corneal dystrophy, type II: confirmation of chromosome 5q31 and identification of new co-segregated loci on chromosomes 3q26.3. In: Experimental & molecular medicine. Vol. 43, No. 7, July 2011, pp. 393-400, doi: 10.3858 / emm.2011.43.7.043 , PMID 21628991 , PMC 3158498 (free full text).
• emedicine.medscape

Individual evidence

1. ↑ ^{a b c d} Granular corneal dystrophy type II. In: Orphanet (database for rare diseases).
2. ↑ R. Folberg, E. Alfonso, JO Croxatto, NG Driezen, N. Panjwani, PR Laibson, SA Boruchoff, J. Baum, ES Malbran, R. Fernandez Meijide: Clinically atypical granular corneal dystrophy with pathologic features of lattice-like amyloid deposits. A study of these families. In: Ophthalmology. Vol. 95, No. 1, January 1988, pp. 46-51, PMID 3278259 .
3. ↑ Corneal dystrophy, Avellino type.  In: Online Mendelian Inheritance in Man . (English)

Web links

• Rare Diseases

This article is about a health issue. It is not used for self-diagnosis and does not replace a diagnosis by a doctor. Please note the information on health issues !