Macular corneal dystrophy

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

The macular dystrophy (MCD) is a very rare and severe congenital form of a corneal dystrophy with parenchymal nodular corneal opacity on both sides with cloudy fogging.

Macular corneal dystrophy, the colloidal iron stain, shows the deposits of glycosaminoglycans in the cornea

Synonyms are: Fehr syndrome; patchy corneal dystrophy; Very spotty corneal dystrophy; Fehr corneal degeneration; Corneal opacity, nodular (Groenouw type II); Groenouw corneal dystrophy type II; Latin Dystrophia corrneae nodosa ; English Macular corneal dystrophy; MCD

The name refers to the author of the first description from 1890 by the Breslau ophthalmologist Arthur Groenouw and a description from 1904 by Oskar Fehr .

distribution

The frequency is given as 1 in 100,000, inheritance is autosomal - recessive .

This form occurs frequently in India , Saudi Arabia and Iceland .

root cause

Of the disease are largely mutations in CHST6 - gene on chromosome 16 locus Q23.1 based, which for in the formation of keratan sulfate involved enzyme N-acetylglucosamine-6-sulfotransferase encoded Corneal. Non-sulfated keratan ( glycosaminoglycans ) build up in the corneal endothelium.

Clinical manifestations

Clinical criteria are:

• Usually begins in the first decade of life
• initially a veil, later spots and nodules distributed over the entire cornea
• pronounced visual impairment, increasing with age
• decreased corneal sensitivity
• repeated erosions of the cornea with pain, photophobia and a feeling of foreign bodies

Differential diagnosis

The following are to be distinguished:

• Granular corneal dystrophy type I (Groenouw syndrome I)
• Lattice corneal dystrophy type I (Biber-Haab-Dimmer syndrome)
• Dermo-chondro-corneal dystrophy
• Parenchymal keratitis (inflammation of the cornea)
• tubercular corneal diseases
• Corneal involvement in systemic mucopolysaccharidoses such as Hurler's and Scheie's disease and mucolipidoses

literature

• Y. Rubinstein, C. Weiner, A. Einan-Lifshitz, N. Chetrit, N. Shoshany, D. Zadok, I. Avni, E. Pras: Macular Corneal Dystrophy and Posterior Corneal Abnormalities. In: Cornea. Vol. 35, No. 12, December 2016, pp. 1605–1610, doi: 10.1097 / ICO.0000000000001054 , PMID 27755187 .
• T. Arora, S. Arora, V. Sharma: Deep Anterior Lamellar Keratoplasty in Macular Corneal Dystrophy. In: Cornea. Vol. 34, No. 8, August 2015, p. E23, doi: 10.1097 / ICO.0000000000000473 , PMID 25970437 .
• GK Klintworth: Corneal dystrophies. In: Orphanet Journal of Rare Diseases. Vol. 4, February 2009, p. 7, doi: 10.1186 / 1750-1172-4-7 , PMID 19236704 , PMC 2695576 (free full text) (review).

Individual evidence

1. ↑ ^{a b c} Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .
2. ↑ ^{a b c d e} corneal dystrophy, macular. In: Orphanet (Rare Disease Database).
3. ^ A. Groenouw: Nodular corneal opacities (noduli corneae). In: Archives of Ophthalmology. 1890; Vol. 21; Pp. 281-289.
4. ↑ Fehr O (1904) About familial patchy corneal degeneration. Initial description. In: Zentralblatt Praktische Augenheilkunde Vol. 28, 1904, pp. 1–11
5. ↑ Who named it
6. ↑ Macular corneal dystrophy.  In: Online Mendelian Inheritance in Man . (English)

Web links

• emedicine.medscape

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 !