The Parameters to Establish a New Corneal Dystrophy

GORDON K. KLINTWORTH

ECAUSE OF THE NEED FOR A WORLDWIDE STAN-

dardized nomenclature for the corneal dystrophies,

an international committee brought together the
diverse literature on these disorders and recommended
preferred names for each entity.1 Each corneal dystrophy
needs a specific name because all of these entities do not
affect the same parts of the cornea or have the same
method of inheritance, pathogenesis, prognosis, or treatment. Like many other genetically determined diseases,
knowledge about each corneal dystrophy passes through a
continuum from clinical discovery, to a clinicopathologic
characterization, to chromosomal mapping, to gene identification, and to the detection of mutations. As this
knowledge advances over time, some designations gradually fall by the wayside and better terms are proposed based
on clinical or clinicopathologic observations or an improved understanding of their cause, pathogenesis, and
pathobiologic features.2 However, attempts to provide
more accurate appropriate appellations often are unsuccessful. After an extended period of use, the names of some
diseases become so ingrained in the literature that they are
difficult to replace. For example, retinitis pigmentosa is a
prime example of a misnomer, because inflammation of the
retina (retinitis) is not a feature of this retinopathy.
Nevertheless, despite attempts to replace this designation
with the more precise name of pigmentary retinopathy, the
old name lives on. Even corneal dystrophy is a misnomer
because entities embraced under this umbrella do not arise
from defective or faulty nutrition, as implied by the word
dystrophy derived from the Latin term dystrophia. Particularly for the lay public, this is probably good because
changes in nomenclature are not always easy to comprehend. To rename diseases frequently as knowledge advances may provide precision, as hematopathologists have
done with the lymphomas, but for those who are not
experts in particular diseases, the changes in nomenclature
can create an aura of chaos.
At anyone point in time, all diseases are not known and
new ones come to light, as occurred with the sudden
emergence of retinopathy of prematurity, AIDS, and severe acute respiratory syndrome. If a new corneal disease is
suspected, it is essential to determine that it has not been
described previously. It is also necessary to make sure that
the condition is not a variant of a known entity. The age
of the patient, the duration of signs and symptoms, as well
Accepted for publication Apr 14, 2011.
From the Duke University Medical Center, Durham, North Carolina.
Inquiries to Gordon K. Klintworth, Room 255, Medical Science
Research Building 1, Duke University Medical Center, Durham, NC
2770; e-mail: klint001@mc.duke.edu
0002-9394/$36.00
doi:10.1016/j.ajo.2011.04.010

2011 BY

as the genetic background and other factors influence the

phenotypes, sometimes making it difficult or impossible to
establish a precise diagnosis on a single patient without
additional information about other affected members of
the family. As learned from the corneal diseases caused by
mutations in the TGFBI gene, distinct clinicopathologic
entities are not necessarily independent disorders, but may
be fundamentally more similar than suspected.3
When a new or previously forgotten corneal dystrophy is
described, the discoverer has the opportunity to name the
new disorder. Others encountering the same entity for the
first time may be unaware of an earlier designation and may
report their observations under a different term. Thus, the
names of an entity may snowball, particularly when one of
the original terms does not become established. Of all the
conditions that affect the cornea, and indeed the eye, the
record number of synonyms belongs to a disorder with
multiple names that include chronic actinic keratopathy.4
Recurrent corneal erosions occur in a variety of distinctly different corneal disorders, including Fuchs, lattice
type I, Meesmann, and subepithelial mucinous corneal
dystrophies, as well as in other conditions. Sometimes the
recurrent erosions have an autosomal dominant method of
inheritance and the erosions are the predominant feature
of the condition. Albert Franceschetti (1896 1968), the
renowned Swiss ophthalmologist, pioneered ophthalmic
genetics and, together with 2 colleagues, published a
comprehensive 2-volume book, Genetics and Ophthalmology, in 1961.5 Buried within the first volume of this text is
a large 7-generation pedigree of a family with recurrent
corneal erosions that he had published previously in 1928.6
The clinical features of affected individuals in this family
originally were documented in a rudimentary way, and the
Franceschetti paper was cited by Weiss and associates
under the broad umbrella of epithelial recurrent erosion
dystrophy (ERED).1 Somewhat similar cases have been
named after the geographic location where the corneal
dystrophy was discovered, as in the Swedish provinces of
Smland (Dystrophia Smolandiensis)7,8 and Hlsingland
(Dystrophia Helsinglanica).9,10 These variants of ERED
share features with relatively minor differences, and it is
debatable whether they are indeed independent entities.
Rigid geographic boundaries do not encase corneal dystrophies, and designations based on locations are unlikely to
withstand the test of time, because the genetic pool of
different mutations never remains entirely in a single
community.
Commonly a new disorder is named after the first person
known to describe it, but others are labeled after a

ELSEVIER INC. ALL

RIGHTS RESERVED.

155

possessive form with an apostrophe, but this practice has

fallen into disrepute and the trend of not using the
possessive form has gradually gathered momentum in
medical writing.11 With countless diseases having eponymous names, many individuals have difficulty learning
and remembering the characteristics of the specific
disorders, but a skill in recalling them is a distinct
advantage for someone interested in trivial pursuit.
The human desire to compartmentalize diseases has
spawned so-called splitters and lumpers, particularly
among individuals studying genetic diseases. Those who
are splitters regard each disorder with recurrent epithelial erosions, such as Dystrophia Smolandiensis and
Dystrophia Helsinglandica, as distinct entities, but
lumpers prefer to group all of these conditions together
as variants of ERED. Although differences have been
detected between the EREDs, an understanding of the
basic defects in each of them remains unknown until the
actual mutations in the responsible gene(s) have been
identified. Until that time of reckoning, it will not be
known whether these conditions are, or are not, variants
of the same disease.

subsequent author. The disorder with recurrent corneal

erosions that was documented by Franceschetti originally
was dubbed hereditary recurrent erosion of the cornea, but it
was later also referred to as Franceschetti syndrome II.
Eponyms in nomenclature are common, and many eponymous corneal dystrophies are named after ophthalmologists: Ernst Fuchs (18511930, Fuchs endothelial corneal
dystrophy); Arthur Groenouw (18621945, Groenouw
corneal dystrophy type 1 and 2, currently known as
granular corneal dystrophy and macular corneal dystrophy,
respectively); Alois Meesmann (1888 1969, Meesmann
corneal dystrophy); Frederick W. Stocker and L. Byerly
Holt (Stocker-Holt corneal dystrophy); Max Bcklers
(18951969, Reis-Bcklers corneal dystrophy); Hans-Jrgen Thiel (Thiel-Behnke corneal dystrophy); Walter F.
Schnyder (18921980, Schnyder corneal dystrophy); and
Hugo Biber (1864 1918), Otto Haab (1850 1931), and
Friedrich Dimmer (18551926, Biber-Haab-Dimmer corneal dystrophy, currently called lattice corneal dystrophy type
1), and the list goes on and on.
At one time diseases, syndromes, and anatomic structures with eponymous names were referred to in the

PUBLICATION OF THIS ARTICLE WAS SUPPORTED BY GRANTS R01EY016514, R011EY012712, AND K12 EY016333 FROM THE
National Eye Institute, National Institutes of Health, Bethesda, Maryland. The author (G.K.K.) indicates no financial conflict of interest, and is solely
responsible for the content of this article.

7. Hammar B, Bjrck E, Lagerstedt K, Dellby A, Fagerholm P.

A new corneal disease with recurrent erosive episodes and
autosomal dominant inheritance. Acta Ophthalmol Scand
2008;(7)86:758 763.
8. Hammar B, Lagali N, Ek S, Seregard S, Dellby A, Fagerholm
P. Dystrophia Smolandiensis: a novel morphological picture
of recurrent corneal erosions. Acta Ophthalmol 2010;88(4):
394 400.
9. Hammar B, Bjrck E, Lind H, Lagerstedt K, Dellby A,
Fagerholm P. Dystrophia Helsinglandica: a new type of
hereditary corneal recurrent erosions with late subepithelial
fibrosis. Acta Ophthalmol 2009;87(6):659 665.
10. Neira W, Hammar B, Hoopainen JM, et al. Dystrophia
Helsinglandica corneal morphology, topography and sensitivity in a hereditary corneal disease with recurrent erosive
episodes. Acta Ophthalmol 2010;88(4):401 406.
11. Iverson C, Christiansen S, Flanagin A, et al. JAMA Manual
of Style: A Guide for Authors and Editors. Tenth ed. Oxford:
Oxford University Press, 2007;778 780.

REFERENCES
1. Weiss JS, Mller HU, Lisch W, et al. The IC3D classification
of the corneal dystrophies. Cornea 2008;27(Suppl 2):S1
S83.
2. Weiss JS. Molecular genetics and the classification of the
corneal dystrophies: what next? [editorial] Am J Ophthalmol
2009;148(4):477 478.
3. Klintworth GK. Corneal dystrophies. Orphanet J Rare Dis
2009;4:7.
4. Klintworth GK. Chronic actinic keratopathy: a condition
associated with conjunctival elastosis (pingueculae) and
typified by characteristic extracellular concretions. Am J
Pathol 1972;67(2):327348.
5. Waardenburg PJ, Franceschetti A, Klein D. Genetics and
Ophthalmology. Oxford: Blackwell Scientific Publications
Ltd, 1961.
6. Franceschetti A. Hereditaere rezidivierende Erosion der
Hornhaut. Z Augenheilk 1928;66:309 316.

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