Reis-Bücklers corneal dystrophy

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

The Rice Bücklers dystrophy is a very rare congenital form of granular corneal dystrophy with both sides reticulated superficial opacities in the center of the cornea .

Reis-Bücklers corneal dystrophy with net-like opacities superficially in the cornea

Synonyms are: Reis-Bückler corneal degeneration; Ring dystrophy, superficial; Bücklers Syndrome; Granular corneal dystrophy type III; Geographic corneal dystrophy; Corneal dystrophy of Bowman's lamella type 1; Corneal dystrophy, atypical granular; Corneal dystrophy, granular, type 3; Superficial granular corneal dystrophy; RBCD; Anterior limiting membrane dystrophy type I; english annular corneal dystrophy; Rice Bucklers Corneal Dystrophy; RBCD; Corneal Dystrophy Of Bowman Layer, Type I; CDB1

The name refers to the German ophthalmologists , the authors of the first description from 1917 Heinrich Maria Wilhelm Reis (* 1872) and Max Bücklers (1895–1969) with a description from 1949.

The Grayson-Wilbrandt corneal dystrophy is considered a variant.

The term "Reis-Bücklers" was also used as a synonym for the Biber-Haab-Dimmer syndrome .

distribution

The frequency is unknown; 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:

• Onset of illness in early childhood
• painful recurrent corneal erosions on both sides
• subepithelial haze Bowman's membrane is limited
• symmetrical, network map or ring-like storage
• irregular astigmatism
• decreased corneal sensitivity
• progressive deterioration in vision

Remissions in early adulthood and later recurrences possible

Differential diagnosis

The other forms of granular corneal dystrophy (earlier onset of disease, more frequent erosions) and Thiel-Behnke corneal dystrophy are to be distinguished .

treatment

The visual acuity , by keratectomy , photorefractive keratectomy , or lamellar keratoplasty be improved.

literature

• WY Qiu, LB Zheng, F. Pan, BB Wang, YF Yao: New histopathologic and ultrastructural findings in Reis-Bücklers corneal dystrophy caused by the Arg124Leu mutation of TGFBI gene. In: BMC ophthalmology. Vol. 16, No. 1, September 2016, p. 158, doi: 10.1186 / s12886-016-0325-y , PMID 27590038 , PMC 5010699 (free full text).
• HU Møller, D. Wittebolpost, EG Weidle: Reis-Bücklers dystrophy. In: Cornea. Vol. 25, No. 4, May 2006, p. 499; author reply 499-499; author reply 500, doi: 10.1097 / 01.ico.0000183662.12697.e9 , PMID 16670500 .
• JE Winkelman, D. Wittebol-Post, JW Delleman: A Contribution to Reis-Bückler's Corneal Dystrophy. In: Clinical monthly sheets for ophthalmology. Vol. 188, No. 2, February 1986, pp. 143-147, doi: 10.1055 / s-2008-1050600 , PMID 3520120 .

Individual evidence

1. ↑ ^{a b} 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} Reis-Bücklers corneal dystrophy. In: Orphanet (Rare Disease Database).
3. ^ W. Reis: Familial, blotchy corneal degeneration. In: Deutsche Medizinische Wochenschrift 1917, Vol. 43, p. 575.
4. ↑ M. Bücklers: About another familial corneal dystrophy (rice). in: Klinische Monatsblätter Augenheilkunde , 1949, Vol. 114, pp. 386-397.
5. ↑ ^{a b} Who named it
6. ↑ Grayson-Wilbrandt corneal dystrophy. In: Orphanet (Rare Disease Database).
7. ↑ Corneal dystrophy, Reis-Bucklers type.  In: Online Mendelian Inheritance in Man . (English)

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 !