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Ophthalmologie» / i9; 161 176 (1965)
From (he Ophlhalmological Department of the Italian Hospital, Buenos Aires
M egalocornea an d M osaic D ystrophy o f th e C ornea
By E. MALBRAK, C. D’ALESSANDRO and J. VALENZUELA
Ophthalinologica. Vol. 149, No. 3 (1965)
10
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Mosaic degeneration of the cornea, the name suggested by
Valerio in 1939, was described lor the first time by Vogt in 1930
when he called it “crocodile shagreen” of the cornea. Although
Weizenblatt in 1928 had already observed a degenerative disease
of the cornea with similar characteristics in six cases, the Swiss
author undoubtedly deserves the merit lor his description and
identification of the disease as a nosological entity possessing ils
own characteristics.
Valerio, in 1939, described a juvenile form of the same de­
generation which he called “mosaic degeneration”. This lesion
was found in the region of Bowman's membrane and in the more
superficial layers of the parenchyma. In 1942 this same author
mentioned that the father of his patient was suffering from a
bilateral bandiform degeneration, which caused him to consider
the disease as a genetically dominant one, the different manifesta­
tion depending on the time of evolution.
In 1947, St reiff presented a further case and Mtiller in 1949
presented a case of post-traumatic keratitis with hypopyon. This
is the first description of mosaic degeneration secondary to trau­
ma, and histopathological evidence of the disease.
In 1953 More and Amidei in a new case, studied histopathologicallv, established the fact that the biomicroscopical aspect of
¡ulterior mosaic degeneration was combined with the histological
characteristics of an incipient band keratopathy. The authors felt
that mosaic degeneration should not be considered as a separate
clinical entity, but as a stage in the degenerative process of the
cornea, in which the lesions are not confined to Bowman’s mem­
brane alone, but also to the epithelium and superficial layers of
the stroma, until the final stage of band degeneration is reached.
162
M albran, D 'Alessandro anil Valenzuela
Kopsa and Marusic in 1958 found a family of six with five of
the members suffering from mosaic degeneration of Bowman’s
membrane. Despite the fact that in the second and third cases
there was a traumatic history, the spontaneous appearance of the
same disease in the other members of the family and in the two
following generations made the authors feel that they were deal­
ing with a dominant type of hereditary degenerative disease such
as described by Valerio.
In 19(51 Holes Carenini described three further cases of mosaic
degeneration of Bowman’s membrane, in three brothers suffering
from megalocornea.
This author accepts the heredofamilial character of corneal
degeneration although, unlike Valerio, Kopsa and Marusic, he
cannot show its dominating character as he only observed one
generation.
François, using Franceschetti and Form’s classification, places
mosaic degeneration amongst the anterior limiting membrane de­
generations. Franceschefli and Forni in 1950. and Franceschetti
in 1954. in their well-known classification, places mosaic degener­
ation amongst the degenerations of the anterior limiting mem­
brane in the same location as band dystrophy.
A study of the literature shows that there is a series of different
varieties of “crocodile shagreen” of the cornea described by Vogt.
varieties which are difficult to relate one to each other.
We will describe the clinical forms which we have had the
opportunity of observing.
A. Central dystrophies.
1) Senile or pre-senile forms: (Fig. 1), with no known here­
ditary antecedents. They are bilateral and symmetrical, and effect
more specially the pupilar area, but also spread in a large part
of the cornea and then gradually disappear as they approach the
periphery. These opacities occur in Descemet s membrane (Fig. 2),
the other parts of the cornea remaining unaffected. Although, as
in other clinical forms, they are always large where the opacity
is more dense, in this case the pupilar area, we wish to point out
that amongst the cases of mosaic degeneration we have studied
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Primary Mosaic Dystrophies
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Megalocornea and Mosaic Dystrophy of the ('.ornea
164
Malbrnn. D'Mcssnnilrn and Vnlenzueln
2) Hereditary Form: Recessive, linked to the heterologous part
of chromosome X and associated with familial megalocornea. We
have found mosaic degeneration associated with megalocornea in
four male members of the same family. In all of these patients
there was bilateral and symmetrical opacity, which was central,
with no change in vision, and both uniform and harmonic as re­
gards distribution, type and size. The mosaic in all patients was
of medium size and in every way similar to that described by
Vof/t and Valerio. What appeared more peculiar was that in some
cases the dystrophy was found in the area of Bowman's (Fig. 3
and 4) membrane and in another in Descemet's membrane, and
in two cases in both areas. The fact that we found this opacity
in both the anterior and posterior limiting areas in the same family
and also the two type in the same patient, makes us wonder as
to how far classification in accordance with its location in the
cornea is valid.
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this type has the smallest units. We could perhaps call it “Venetian
mosaic”, this being the name given to this small mosaic, to dif­
ferentiate it from the other types. We have found this mosaic in
four cases only, there being no other changes and no known ante­
cedents.
Megalocornea and Mosaic Dystrophy of the Cornea
165
1?. Senile or Pre-senile Peripheric Types:
This form of mosaic opacity is often found associated with
gerontoxon. This is more visible in the region of Descemet’s mem­
brane, although in the majority of cases the demarcating lines of
the mosaic can also be seen near Bowman’s membrane. Like the
senile arch, there is a lucid interval between the limbic area and
that where the mosaics are slightly larger than the classical ones
described. We never found that this clinical form of rhomhoidal
mosaic opacity affected the pupilar area. It is bilateral, symme­
tric and harmonic in distribution, size and shape of the opacities
and a common symptom in the daily examinations carried out
on patients over 50 years of age. This is similar to the senile arch
with plexiform type of dark lines described by Vogt.
Secondary Mosaic Dystrophies
We have not had the opportunity of studying, as yet, the
traumatic form described by Mailer but we have seen a post-in­
flammatory type. This occured in a femal patient who presented,
following several cyclitical episodes, a bandiform opacity of the
right eye with secondary and incomplete degeneration of Bow­
man's membrane, where opacities, irregular in both shape and size,
could be seen in the form of a mosaic. It would appear that the
secondary forms observed by Müller and seen by us in this case
are unilateral, irregular, disharmonic as regards size and shape,
and the largest mosaics as yet described.
These secondary forms of dystrophy appear to support those
opinions that sustain there is a relationship between the early mo­
saic degeneration and the final stage of band keratopathy.
Familial Mosaic Degeneration and Megalocornea
Case I. This patient, the propositus of our study, A. M., is a 47-vear-old
male, married, with two single daughters, 19 and 17 years old respectively,
lie is the third child, second son, of a total of three females and two males
from his mother’s second marriage. The antecedents of the mother show that
she had five children by her first marriage also, three males and two females.
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The following is a description of a family in which various
of its male members were found to be suffering from mosaic
degeneration associated with megalocornea.
1 66
M nib ran, D’Alessandro and Valenzuela
one of which (Case 3) presents a similar picture. The youngest daughter of
this first marriage had only one child (Case 4i who is now 31 years old and
who is also suffering from a similar disease.
The maternal grandfather of Case 1 had four children, only one of which
was a female. According to reports he was operated for cataract and had
noticeably large eyes, but no other data exists. The patient’s brother (Case 2)
also has the same disease and is now blind.
Examination: Cornea: both corneas have a diameter of 14 mm,
inegalocornea, with radius betw'een 7.2 and 7.4 (Javal). In the
region of Descemel’s membrane and occupying the pupilar area
only, approximately 4 lo 5 mm. a greyish opacity could be seen
made up of small polygonal figures separated by perfectly trans­
parent dark lines. These opacities are larger in the center and then
become smaller and disappear into the normal cornea tit the pe­
riphery. Anterior Chamber: This is deeper than normal (4 mm
between the endothelium and the border of the pupil). Gonioscopy: Wide “Arrondi” type angle with a large number of iridian
trabeculae and with typical aspect of high pseudo-insertion of
the iris, such as is seen in congenital glaucoma. Lens: Right eye,
intumescent cataract. Left eye, nuclear cataract. Fundus oculi:
No anomally of the retina of Ihe left eye can be seen. Vision:
Right eye, good light projection. Left eye Vm. 1.0. P.: Goldman s
aplanation tonometer shows both eyes to have 12 mm HG.
Both eyes were operated by us for cataract with an interval
of one year between operations. At the present time his vision is
20/20 and 20/30 with Sph - 9 Cyl. + 1 at 175° and Sph + 9 Cyl.
-f 0.75 at 100°, in right and left eyes respectively.
Summary: Megalocornea, incomplete congenital glaucoma,
cataract and mosaic degeneration of Descemet’s membrane.
Examination: Cornea: Both corneas show 15 mm. diameter.
Corneal radii between 8.2 and 8.9 (Javal). Both eyes the same
central greyish opacity as in Case 1, although in this case it in­
vades the region of Bowman’s membrane and apparently the par­
enchyma as well. Anterior Chamber: Deeper than normal in both
eyes: 6 mm. Gonioscopy: “Arrondi” type wide angle in both eyes.
High pseudo-insertion of the iris. Iris: There is marked atrophy of
the mesodermic sheath in both eyes. The right eye also shows
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Case 2. F. M., 48 years of age, bachelor. Elder brother of Case 1. Progressive
loss of vision from youth. Lost the vision of his right eye suddenly and was
operated for retinal detachment. The left eye was operated for cataract by
another surgeon four years ago.
Megalocornea and Mosaic Dystrophy of the Cornea
167
marked atrophy of the collarette, withe seclusion. The pupil of
the left eye is free and round following surgical aphakia. Lens:
Right eye, complete cataract with folds in the capsule, epithelial
proliferation as seen in inveterate retinal detachment. Left eye,
pale nerve with glyal proliferation at the centre. Vision: Right eye.
poor light projection. Left eye. light perception. I.O.P. Aplanation
tonometer shows right eye 10 mm HG and left eye 26 mm HG.
Summary: Megalocornea (incomplete congenital glaucoma),
mosaic degeneration of Bowman’s membrane. Cataract with cap­
sular-lenticular proliferation and probable detachment of the re­
tina of the right eye. Complete surgical aphakia and round pupil
in the left eye.
Case 3. A. I)., 55 years old, married man. Stepbrother of Cases 1 and 2
(mother's first marriage). Large eyes since childhood. Progressive diminution
of vision, more marked in tire right eye, beginning some years ago.
Fig. o
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Examination: Cornea: Cornea of 18 mm in both eyes. Giant
megalocornea (Fig. 5). Corneal radii between 8.5 and 8.7 mm. Grey­
ish opacities in the form of mosaic occupying the centre in an ex­
tension of from 6 to 7 mm leaving the periphery completely free.
These opacities are located in the region of Bowman’s membrane
I ISS
Malbnm, D'Alessandro and Valenzuela
and, as in (aise 2, the parenchyma appears to be compromised
as does also Descemet's membrane, though this is not so noticeaisle as in Bowman’s membrane. Anterior Chamber: Unusually
deep in both eyes, 6HI and (5 mm. Gonioseopy: In both eyes the
picture is exactly similar to Case 2. Iris: Bilateral iridonesis. Ex­
treme atrophy of the anterior sheath. Lens: Bilateral phako­
donesis. Intumescent cataract in the right eye. Nuclear cataract in
the left eye. Vision: Good light projection in the right eye, left
eye 1/10. Both eyes were operated using enzymatic zonulolysis
and peripherical iridectomy. Present visual acuity of 5/10 and
6/10 using spectacles.
Summary: Megalocornea (incomplete congenital glaucoma),
cataract, mosaic degeneration of Descemet’s and Bowman’s mem­
branes.
Case i. K. L., 31-year-old male, married, with two sons aged four years
and four months respectivilv. Only child of Ihe only sister of Case 3. Large
eyes since childhood.
Examination: Cornea: Corneal diameter of 15 mm in both eyes
Imegalocornea). Corneal radii between 7.5 and 7.8. Mosaic opaci­
ties in the pupilar fields in the region of Bowman's and Descemet’s
membranes. Bilateral Krukenberg’s spindle. Kayser’s ring in both
eyes, similar to that of keraloconus which is more marked in the
right eye. Anterior Chamber: Depth: right eye 4 'A mm, left eye
5 mm. Gonioseopy: Intense dark brown pigmentation of the
scleral trabecula in both eyes, more specially the right eye. Scleral
spur perfectly visible. The gonioscopical aspect is reminiscent of
a pigmentary glaucoma. Iris: Atrophy of the mesodermie sheath.
Lens: Normal. Fundus oculi, normal. 1.0.P.: Aplanation tonometer
shows 12 mm IIG in both eyes. Vision: Right eye, 10/10 with
Sph - 1.25 Cyl. - 1.75 at 10 . Left eye 10/10 with Sph - 1.75 Cvl. 0.75 at 170°.
Summary: Megalocornea (incomplete congenital glaucoma).
Anterior and posterior mosaic degeneration. Kayser’s ring. Atypi­
cal gerontoxon. Krukenberg’s spindle (pigmentary glaucoma?).
The majority of familial megalocornea pedigrees are charac­
terized by the appearance of the recessive sex-linked form (Waardenburg 10(>1, François 1958).That is to say that heredity is pos-
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Discussion
Megalocornea and mosaic-like dystrophy
Woman married twice
Probably megalocornea and cataract
0
Carrier of both disorders in one X-chromosome
D
Megalocornea. Anterior and posterior mosaic dystrophy. Cataract
B
EB
E
Megalocornea. Anterior mosaic dystrophy. Cataract
m
Megalocornea. Posterior mosaic dystrophy. Cataract
Megalocornea. Anterior and posterior mosaic dystrophy
Abnormal Bowman’s reflex
Propositus
Fig. 6
169
a
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Examined case
Megalocornea and Mosaic Dystrophy of the Cornea
Ophthalmologies, Vol. 149, No. 3 (1965)
X
Malbran, D'Alessandro and Valenzuela
sible due to the responsible gene, with :i recessive characteristic,
occupying the non-homologous part of chromosome X.
Frieda in 1923, and Alaerts in 1949, mention in other pedi­
grees a sex-linked form with lielerozygole manifestation in the
woman (intermediate heredity due to increased expressivity of
the gene). In the majority of familial cases of megalocornca with
heredity linked to chromosome X, the lens are enlarged and the
cataract develops late in life. The association of cataract, subluxation of the lens and iridonesis is often found in familial megalocornea. If we accept the dual criterion of megalocornea and con­
genital glaucoma as separate entities, the genetic interpretation is
not so difficult. But if the unicist theory is allowed, which consid­
ers megalocornea to be just an incomplete congenital glaucoma, a
fact accepted by us in an earlier paper (Malbran and Dodds,
1960), the genetic interpretation is somewhat more complicated.
The finding amongst brothers of megalocornea without glau­
coma, complete, early or late congenital glaucomas, Marfan’s
syndrome, etc., apart from some indisputable morphological
characteristics, makes it difficult to definitely separate these dis­
eases and makes the genetic study somewhat uncertain. As to
heredity of crocodile degeneration, we have seen that in the cases
described, emphasis is placed on the dominant character of the
diseases and always referred to anterior mosaic degeneration or
degeneration of Bowman’s membrane. As regards posterior mo­
saic degeneration, as stated by Waardenburg (1961), it is only
considered a senile factor up to the present.
Boles Carenini (1961), when describing his cases of megalo­
cornea and mosaic degeneration in three brothers out of a family
of five brothers, states that this confirms its heredofamilial char­
acter, but as he did not study the parents he cannot confirm the
dominant character. Probably even if it had been possible to per­
form this examination no data would have been obtained without
a study of the previous generation. Specially if, as we believe,
the coupling of the gene of mosaic degeneration to that of megalo­
cornea in the same chromosome is ruled by the recessive heredity
linked to chromosome X, typical of megalocornea, and which was
found by us in the family under discussion.
The analysis of our pedigree (Fig. 6) shows the following: the
first case in the family to be affected was the grandfather of the
“propositus”. Although we have no precise data, we do know that
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170
171
he had large eyes (megalocornea) and that he was operated on
for cataract. All the other cases suffering from megalocornea and
mosaic degeneration in the third and fourth generation are males
and have all been examined by us. Apart from the data given re­
garding the maternal grandfather, which allow one to suppose
that he suffered from megalocornea at the very least, amongst the
descendents of both marriages of the mother of the “propositus”,
two males in each branch are affected; this being a clear demon­
stration that the carrier of the abnormal genes was this twice
married woman. The fourth case, in the fourth generation, son
of the second daughter of the first marriage, is another factor
which shows that in this family ihe sons suffer from the disease
which is transmitted by the genotypically affected women, who
are phenotypically healthy. The foregoing proves that in this
family megalocornea and mosaic degeneration are genetically
manifested in recessive heredity form allied to the sex chromo­
some X. Horner’s law is applicable in the cases of the first and
third generation, where the disease passed from the parents to the
grandchildren without affecting the children. This type of here­
dity transmission is the one most often observed amongst the dif­
ferent pedigrees of megalocornea studied, but we think that this
is the first family in which the hereditary character can be
ascribed to mosaic degeneration of the cornea. This is probably
the same type of heredity suffered by Boles-Carenini’s cases of
megalocornea and mosaic degeneration of the cornea. In this pedi­
gree it is quite clear that both diseases, megalocornea and mosaic
degeneration of the cornea are simultaneously transmitted and
not independently, as this is the only case we have seen associated
in the same patient and not inherited independently. We must
accept the fact that there has been gene linkage of the pathologi­
cal genes of megalocornea and degeneration in mosaic, genes
linked in coupling and both occupying the heterologous portion
of one chromosome. This form of heredity, gene linkage, has, up
to now, only been described in a form of myopia associated with
hemeralopia and in a type of haemophilia linked to dyschromatopsia. On the other hand, as stated by François, the identification
in the human of linkage or coupling requires the study of three
successive generations. The intermediate sex linked heredity by
which there are some phenotypical signs of the disease amongst
the female carriers (intermediate phenotypia) should be discard-
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Megalocornea and Mosaic Dystrophy of the Cornea
Malbran, D’Alessandro and Valenzuela
ed in the present family, at least insofar as referred to megalocornea, this latter disease being quite evident even by the non­
professional. However, mosaic degeneration of the cornea may
have existed as it is only found by biomicroscopical examination
because it does not alter the visual acuity. We carried out this
latter examination on a woman who was, unquestionably, a car­
rier, the mother of Case 4 and found no signs of the two diseases
under discussion.
It now remains for us to discuss the semiological characteris­
tics as related to the genetic value in the pedigree we are present­
ing. Apart from the reasons we have mentioned regarding the
familial character of the disease in our patients, we also find that
they follow the fundamental rules of hereditary diseases: 1) Homochronicity: it begins at about the same age in the same family.
2) Homology and homotype: the same disease in all the affected
members of the family. 3) Intrafamilial constancy in evolution. In
agreement with the other semiological elements characterizing our
cases, we found the following:
Megalocomea: This malformation was naturally present since
birth in the four cases, with some small morphological variations.
Mosaic Degeneration: As a general rule the changes in the cor­
nea were much alike in all four cases as regards form, size, and
surface occupied by the polygonal opacities. In respect to size we
have the impression that, comparatively speaking, the youngest
patient had a slightly smaller mosaic than the three older cases
(1, 2, 3). We must stress one important detail, that is, we found
that the area primarily affected (Bowman’s or Descemet’s mem­
branes) were different amongst the respective members of this
family: i.e., a clear case of mosaic degeneration of Descemet’s
membrane, as in case 1: mosaic degeneration of Bowman’s mem­
brane, case 2; and in cases 3 and 4 both Bowman’s and Descemet’s
membranes were simultaneously affected.
In our opinion these observations where the opacities are dis­
tributed in different layers in the same pedigree, are an impor­
tant aid towards the understanding of mosaic degeneration, show­
ing, as they do, that when both the superficial and deep layers
are compromised this does not necessarily mean that two sepa­
rate entities are entailed. We cannot establish anything certain as
regards homochronicity of mosaic degeneration with our patients.
We found this change to be present in the three patients of the
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172
Megalocornea and Mosaic Dystrophy of the Cornea
173
third generation at 55, 48 and 47 years of age respectively, and in
the fourth generation at 31 years of age. As regards visual acuity,
we found that it is not affected to any great extent. The appear­
ance of a cataract in three of the patients over 40 years of age is
frequent in cases of familial megalocornea, where lens opacity
may show up as a late complication of the syndrome. There are
no changes in the lens in the 31-year-old patient, case 3, up to the
present. To conclude our findings on this pedigree, we wish to
state that the clinical features of case 4 in respect to its similarity
to pigmentary glaucoma, may be another contribution regarding
the relationship between megalocornea, congenital glaucoma and
pigmentary glaucoma, as was suggested by J. Malbran (1957), and
commented on by us elsewhere (1960).
Mosaic degeneration of the cornea is a change in this mem­
brane which can be caused by different etiologies: senile or he­
redity forms (primary dystrophies); inflammatory or traumatic
forms (secondary dystrophies). As regards pedigree, there are
pedigrees known which show the simultaneous appearance of
mosaic degeneration and megalocornea in the same individual
(Boles-Carcnini and the cases we present here). The character­
istic opacities of corneal dystrophy may appear in diverse loca­
tions in the affected cornea according to their distribution in the
pupilar or limbic areas or in the region of Bowman’s or Descemet’s membranes, or else in both simultaneously. These opacities
vary as to regularity, size or shape, and can be unilateral or bi­
lateral. Although there are some differences in the clinical forms
discovered up to now, we may say that in the primary forms of
mosaic degeneration, whether senile or hereditary, there is a cer­
tain regularity and symmetry (bilateralness) as regards distribu­
tion, form and size of the polygonal opacities. On the other hand,
in mosaic degeneration secondary to traumatic or inflammatory
processes, caused probably by identical pathogenies, the asym­
metry (unilateral in all the cases described up to now), the ir­
regularity of size and shape of the opacities, is very noticeable.
These latter types, as the semiological and histopathological data
mentioned would suggest, constitute a bond of union between
this dystrophy and the so-called band keratopathy. As in the ma­
jority of cases, this type of opacity of the cornea does not alter
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Conclusions
174
Malbran, D'Alessandro and Valenzuela
visual acuity and ¡1 is probable that it has not been recognized
more often, especially when associated with other types of ocular
or general pathology.
Up to the present time two forms of hereditary transmission
have been proposed: dominating autosomic heredity and reces­
sive, linked to the heterologous part of chromosome X and asso­
ciated with megalocornea in the pedigree presented by us. If our
conclusions as to the genetic order are correct, this form of hered­
ity is a further example of gene linkage and coupling in the same
sexual chromosome of a determined pair. The unexpected find­
ing in one pedigree with intrafamilial constancy, and compromise
of different corneal layers in different members of the family,
with mixed forms in one patient, is one more element leading us
to suppose that this dystrophy of the cornea is a form of reaction
of the limiting membranes to noxae and that “crocodile” degener­
ation of Bowman’s or Descemet’s membranes described up to now
cannot always be considered as a clinically separated entity.
Summary
Die mosaikahuliche Dystrophie der Cornea kann in verschiedener Tiefe des Stromas lokalisiert sein (Bowman’sche Zone, Descemet’sche Zone Oder beide beim gleichen Patienten).
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The mosaic like corneal dystrophy can be located at different
depths within the corneal stroma (Bowman’s zone, Descemet’s
zone or both in the same patient).
According to different clinical varieties of this ailment, the
mosaic like opacities can be situated namely at the pupilar area
or the peripheric zone of the cornea. This dystrophy is primary
as the senile type as well as the hereditary type associated to me­
galocornea, or secondary as the post-traumatic or post-inflamma­
tory type which have histopathological features of the band
shaped keratopathy.
The authors present a family study on which the mosaic like
dystrophy and megalocornea was present in four male members.
The authors conclude that the inheritance was following the X sex
linkage rules, and that both pathological genes were located and
coupled (gene-linkage) on the heterologous part of the X Chromo­
some.
Zusammenfassung
Megalocornea and Mosaic Dystrophy of the Cornea
175
Entsprechend des unterschiedlichen klinischen Hildes dieses
Leidens können die mosaikähnlichen Trübungen vorwiegend im
Pupillarbereich oder in der Peripherie der Cornea liegen. Diese
Dystrophie tritt einmal auf als seniler wie auch als erblicher Typ
in Verbindung mit einer Megalocornea oder zum anderen als
posttraumatischer oder entzündlicher Typ mit histopathologischen
Bildern der bandförmigen Keralopathie. Die Verfasser untersuch­
ten eine Familie, in der die mosaikähnliche Hornhautdystrophie
und die Megalocornea bei 4 männlichen Familienmitgliedern zu
beobachten waren. Die Verfasser schließen daraus, daß die Ver­
erbung nach dem X-geschlechtsgebundenen Vererbungsmechanismus erfolgt und daß die beiden pathologischen Gene an den heterologen Teil des X-Chromosoms lokalisiert und gekoppelt sind
(Gen-Koppelung).
Résumé
La dystrophie cornéenne en mosaïque peut être localisée à
différentes profondeurs du stroma cornéen (membrane de Descemet, de Bowman ou dans les deux chez le même patient).
Selon les différentes variétés cliniques de cette maladie, la
dystrophie en mosaïque peut être située dans la zone pupillaire ou
périphérique de la cornée. La forme primaire de type sénile aussi
bien qu’héréditaire est associée à la mégalocornée. La secondaire
est du type post-traumatique ou post-inflammatoire et a les carac­
tères histopathologiques de la kératopathie en bande.
Les auteurs présentent l’étude d’une famille dans laquelle la
dystrophie en mosaïque et la mégalocornée étaient présentes chez
4 hommes. Les auteurs en concluent que l’hérédité accompagne le
chromosome X lié au sexe et que les gênes pathologiques étaient
localisés et couplés (enchaînement des gênes) à la partie hétéro­
logue du chromosome X.
Í. Alaerts, II.: Cited by Waardenburg, Franceschetti and Klein.
2. Berliner, M.: Biomicroscopie of the eye (Hocker, New York 1949).
3. Boles-Carenini, B.: Juvenile familial mosaic degeneration of the cornea
associated with megalocornea. Brit. J. Ophthal. 45: 64-70 (1961).
4. Cremona, A.: Enfermedades heredodegenerativas de la cornea en su aspecto
biomicroscópico. Actas VI Congreso Argentino de Oftalmología, p. 249-303.
Abril 9 a 13, Mar del Plata, 1957.
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References
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Malbran, D’Alessandro and Valenzuela
5. Franceschetti, A.: Classification and treatment of hereditary dystrophies.
Arch. Ophthal., Chicago 52: 1-12 (1954).
6. Franceschetti, A. and Forni, S.: The heredo familial degeneration of the
cornea. Acta XVI Concilium Ophthalmologicum, London 193-244, 1950.
7. Franceschetti, A.; Dieterle, P. and Forni, S.: Cited by Waardenburg, Fran­
ceschetti and Klein.
8. François, J.: L’Heredité en Ophtalmologie, p.336 (Masson, Paris 1958).
9. François, J.: Citado por Cremona, A.
10. Friede, R.: Cited by Waardenburg, Franceschetti and Klein.
11. Kopsa, M. et Marusic, K.: Contribution a l’étude de la dégénérescence en
mosaïque de la membrane de Bowman de la cornée. Ophthalmologica
136: 83-89 (1958).
12. Malbran, E. and Dodds, R.: Megalocornea and its relation to congenital
glaucoma. Amer. J. Ophthal. 49: 908-921 (1960).
13. Malbran, J.: Le glaucome pigmentaire. Sa relation avec le glaucome con­
génital. Probl. act. Ophtal. I: 132 (1957).
14. Manzitti, E.: Sobre un caso de distrofia de la cornea en mosaico. Arch. Oftal.
B. Aires 24: 314-317 (1949).
15. Moro, E. e Amidei, B.: Sui rapporti tra degenerazione corneale del tipo a
pelle di coccodrillo de Vogt a cheratite a bandetella. G. ital. Oftal. 6': 444
(1953).
16. Muller, P.: Dégénérescence en mosaïque (Chagrin de crocodile de Vogt)
de la membrane de Bowman à la suite d’une kératite traumatique avec
hypopyon. Ann. Oculist. 187: 122 (1949).
17. Rillo Cabanne, G.: Megalocornea y enfermedad de Paget. Arch. Oftal. B.
Aires 26; 272-284 (1954).
18. Streiff, E. B.: Lignes verticileuses vitréennes de la membrane de Bowman.
Chagrin de la membrane de Descemet. Ophthalmologica 116: 125 (1958).
19. Valerio, M.: Due forme rare di degenerazione giovanile delle cornee. Boll.
Ocul. 18: 659-670 (1939).
20. Valerio, M.: Di una nuova rara forma di distrofia corneale ereditaria. Arch.
Ottal. 49: 76-93 (1942).
21. Vogt, A.: Lehrbuch und Atlas der Spaltlampenmikroskopie des lebenden
Auges. Vol. 1, p. 120-142. Weinzenblatt: cited by Millier, P. (Springer, Berlin
1930).
22. Waardenburg, P. J.; Franceschetti, A. and Klein, D.: Genetics and Oph­
thalmology (Blackwell Scientific Publ. Ltd., Oxford 1961).
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Authors’ address: Dr. E. Malbran, Dr. C. D’Alessandro and Dr. J. Valenzuela, Parera 94,
Buenos Aires (Argentine).
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