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14th Meeting of ISGED PARIS 2003 - Dog · This is also true of the various forms of corneal...
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Corneal dystrophies (CD): Misnomers and clinical classification Walter Lisch, Egon G. Weidle, Christina Lisch, Klaus-P. Steuhl 14th Meeting of ISGED 14th Meeting of ISGED PARIS PARIS 2003 2003
Transcript of 14th Meeting of ISGED PARIS 2003 - Dog · This is also true of the various forms of corneal...
Corneal dystrophies (CD): Misnomers and clinical classification
Walter Lisch, Egon G. Weidle, Christina Lisch, Klaus-P. Steuhl
14th Meeting of ISGED14th Meeting of ISGEDPARISPARIS20032003
„„Was ist das Schwerste von Was ist das Schwerste von allem? Was dir das Leichteste allem? Was dir das Leichteste ddüünkt: mit den Augen zu sehen, nkt: mit den Augen zu sehen, was vor den Augen dir liegt.was vor den Augen dir liegt.“
““What's hardest of all? It's what What's hardest of all? It's what you think is easiest: to see with you think is easiest: to see with your eyes what's before your your eyes what's before your eyes.eyes.“““
According to this wisdom from Goethe the ophthalmologist,too always has a differentialdiagnostic challenge of anophthalmological disease.
This is also true of the various forms of corneal dystrophies.
In the last 10 years there are many important and interesting DNA examinations in nearly all forms of corneal dystrophies.
I'll give you 2 examples:
1. There are several reports about many mutations of Lattice corneal dystrophy, type I
2. From Japan we recognize two papers about the homozygote forms of Granular corneal dystrophy, type I and type II
Up till today the clinical classification of the various forms Up till today the clinical classification of the various forms of corneal dystrophies are nonof corneal dystrophies are non--uniform and mistakable.uniform and mistakable.
I'll give you 1 example concerning ReisI'll give you 1 example concerning Reis--BBüücklerscklerscorneal dystrophy.corneal dystrophy.
In recent years you have been able to see theIn recent years you have been able to see thefollowing synonyms in renownedfollowing synonyms in renownedophthalmological journals.ophthalmological journals.
All this different terms require not clinical but All this different terms require not clinical but histological consideration.histological consideration.
ReisReis--BBüücklers CDcklers CD
Synonyma:Synonyma: -- Superficial granular CDSuperficial granular CD-- Atypical granular CDAtypical granular CD
Granular CD, type IIIGranular CD, type III-- Anterior limiting membrane dystrophy, type I Anterior limiting membrane dystrophy, type I
(ALMD I)(ALMD I)-- Corneal dystrophy of Bowman's layer, type I (CDB I)Corneal dystrophy of Bowman's layer, type I (CDB I)
The next point is, that some misnomers still exist.The next point is, that some misnomers still exist.
The best example is Avellino CD for Granular CD, The best example is Avellino CD for Granular CD, type IItype II
We know, that in Japan the soWe know, that in Japan the so--called Avellino called Avellino dystrophy is more frequent than the classical dystrophy is more frequent than the classical granular dystrophy, type I.granular dystrophy, type I.
Granular CD, type IIGranular CD, type IIMisnomer:Misnomer:Avellino CDAvellino CD
WhyWhy:: -- BBüücklers (1938)cklers (1938)-- Eastern EuropeEastern Europe-- JapanJapan
Why does the ophthalmologist need a clear and Why does the ophthalmologist need a clear and unmistakable classification of corneal dystrophies?unmistakable classification of corneal dystrophies?
The ophthalmologist is the first, who examines a The ophthalmologist is the first, who examines a new patient with a corneal dystrophy using the slit new patient with a corneal dystrophy using the slit lamp.lamp.
He must therefore have at his disposal a clear and He must therefore have at his disposal a clear and unmistakable nomenclature for the individual unmistakable nomenclature for the individual corneal dystrophies.corneal dystrophies.
Clinical and DNA examinations of the new Clinical and DNA examinations of the new patient's family will or will not confirm the clinical patient's family will or will not confirm the clinical diagnosis. Additionally the DNA examinations diagnosis. Additionally the DNA examinations provide important genetic information.provide important genetic information.
For exampleFor example
Meesmann corneal dystrophy Meesmann corneal dystrophy (AD, 12q13, Glu 509 Lys)(AD, 12q13, Glu 509 Lys)
What clinical criteria are necessary to make a clinical classification of corneal dystrophies?
Clinical classification of CDClinical classification of CDif not if not
1. Opacity pattern
unique and unmistakable landmark
2. Opacity unit
unique and unmistakable landmark
3. Eponym
classification
Exp.: Meesmann CD,
Opacity Pattern: not unique
Opacity unit: solitary microsysts- unique, but mistakable
„Epithelial solitary microcysts CD“
Exp.: Honeycomb CD Exp.: Granular CD, type 1
Briefly w´ll give some comments and proposals for a clinical classification of corneal dystrophies. Of course because of the limited time some rare forms are lacking.
1. Epithelial basement membrane CD (AD, ?)(= histological term)
Syn.: - Map-Dot-Dystrophy(= incomplete)
- Map-Dot-Fingerprint-Cyst CD(= complete, but too long)
“Cogan-Bron CD”
2. Meesmann CD (AD, KRT3 gene, 12q13, Glu 509 Lys)(AD, KRT12 gene, 17q12, 6 mutations)
Syn.: Juvenile epithelial dystrophy(=mistakable)
“Epithelial solitary microcysts CD”
3. Lisch CD (XD, Xp 22.3)
Syn.: Band-shaped whorled microcystic CD(= mistakable)
“Epithelial crowded microcysts CD”
4. Granular CD, type I a
(AD, BIGH3 gene, 5qB1, Arg 555 Trp) (= heterozygote type)
“Okada et al., AJO 1998”
5. Granular CD, type I b (AD, BIGH3 gene, 5q31, Arg 555 Trp)(= homozygote type)
“Placoid type of CD”
6. Granular CD, type II a (AD, BIGH3 gene, 5q31, Arg 124 His(= heterozygote type)
Syn.: Avellino CD(=mistakable)
Maybe a better term: “Star-ring CD”
“Watanabe et al., AJO 2001”
7. Granular CD, type II b (AD, BIGH3 gene, 5q31, Arg 124 His)(= homozygote type)
JAPAN
“Confluent granules”“Reticular gray-white diffuse opacity”
Granular CD, type Ia
8. Reis-Bücklers CD (AD, BIGH3 gene, 5q31, Arg 124 Leu)(AD, BIGH3 gene, 5q31, Arg 555 Gln)
Syn.: Granular CD, type IIISuperficial granular CDAnterior limiting membrane dystrophy, type I (ALMD I)Corneal dystrophy of Bowman`s layer, type I (CDB I)
All terms are mistakable.
“Geographic – like CD”
9. Honeycomb CD (AD, BIGH3 gene, 5q31, Arg 555 Gln)(AD, BIGH3 gene, 5q31, Arg 124 Leu)
Syn.: Thiel-Behnke CDAnterior limiting membrane dystrophy, type II (ALMD II)Cornealdystrophy of Bowman`s layer, type II (CDB II)
Honeycomb = unique and unmistakable
10. Lattice CD, type I (AD, BIGH3,gene, 5q31, Arg 124 Cys and 6 other mutations)
Recently we found out a newmutation: Leu 509 Pro
Opacity pattern: paracentral lattice lines
11. Lattice CD, type IIMeretoja-Syndrom = is not a CD!
12. Lattice CD, type III (AR, ?)
Syn.: Hida CD
Opacity pattern: central and paracentral lattice lines = unique, but maybe mistakable
“Lattice CD, type Hida”
13. Lattice CD,type IIIa (AD, BIGH3 gene, 5q31, Pro 501 Thr
Ala 622 His His 626 Ala Ser 538 Cys)
Opacity pattern: central and paracentral lattice lines
“Lattice CD, type II”
14. Macular CD (AR, 16q21, ?)
3 different types concerning reactions to antigenicKeratan sulfate. Until now no phenotypicaldifferences.
Opacity pattern: flecks and diffuse opacities in the whole stroma.
15. Schnyder CD (AD, 1p34.1 – p 36, ?)
Syn.: Central cristalline dystrophy(= mistakable)
2 Types: Cristalline typenon cristalline type (rare)
“Comma–shaped crystals CD”
16. FUCHS CD (AD, 1p 34.3. - p 3 ,COL8A2 gene)Syn.: Endo-epithelial CDOpacity pattern: Cornea guttata
Stromal oedemaEpithelial bullae
17. Congenital endothelial CD (AR, 20 tel, ?)(AD, 20 p, ?)
Posterior polymorphous CD (AD, 20q11, VSX1 gene)
Syn.: Schlichting CD
New clinical and genetical examination.In one big family we found out all known clinicalsymptoms of Congenital endothelial CD andPosterior polymorphous CD !
We have summarized our first draft concerning an incomplete clinical classification of corneal dystrophies
Clinical classification of CD (incomplete)Clinical classification of CD (incomplete)
1. Cogan1. Cogan--Bron CDBron CD““MapMap--DotDot--FingerprintFingerprint--Cysts CDCysts CD””
2. Meesmann CD2. Meesmann CD““Epithelial solitary Epithelial solitary microcystsmicrocysts CDCD””
3. Lisch CD3. Lisch CD““Epithelial crowded Epithelial crowded microcystsmicrocysts CDCD””
4. Granular CD, type I a4. Granular CD, type I a
5. Granular CD, type I b5. Granular CD, type I b
6. Granular CD, type II a6. Granular CD, type II a““StarStar--ringring CDCD””
7.7. Granular CD, type II bGranular CD, type II b
a= heterozygotea= heterozygoteb= homozygoteb= homozygote
8. Reis8. Reis--BBüücklers CDcklers CD““GeographicGeographic--like CDlike CD””
9. Honeycomb CD9. Honeycomb CD
10. Lattice CD, type I (AD)10. Lattice CD, type I (AD)
11. Lattice CD, type II (AD)11. Lattice CD, type II (AD)
12. Lattice CD, type 12. Lattice CD, type HidaHida (AR)(AR)
13. 13. MacularMacular CDCD
14. 14. SchnyderSchnyder CDCD““CommaComma--shapedshaped cristalscristals CDCD““
15. Fuchs CD15. Fuchs CD
16. 16. CongenitalCongenital endothelialendothelial CDCD
We propose to constitute an international commission under the auspices of ISGED to elaborate an international accepted clinical classification of corneal dystrophies.
We propose the following colleagues alphabetically:
Dr. Bron Dr. Bron (Oxford) (Oxford)
Dr. Dr. DighieroDighiero (Paris)(Paris)
Dr. Dr. HHééonon (Toronto)(Toronto)
Dr. Dr. KlintworthKlintworth (Durham)(Durham)
Dr. Dr. MashimaMashima (Tokyo)(Tokyo)
Dr. Dr. MunierMunier ((LausanneLausanne))
Dr. Dr. OkadaOkada (Osaka)(Osaka)
Dr. Stone Dr. Stone (Iowa)(Iowa)
Dr. Dr. TraboulsiTraboulsi (Cleveland)(Cleveland)
ISGEDISGEDCOMISSION for a clinical classification of COMISSION for a clinical classification of
corneal dystrophiescorneal dystrophies
Every 2 years the commission has to update the classification of corneal dystrophies.
It would be desirable if finally in the future in the renowned international ophthalmologic and genetic journals a uniform and unmistakable nomenclature for corneal dystrophies could be used incorporating the proposal of the ISGED commission for corneal dystrophies classification.
