A CASE OF MICROCEPHALUS WITH 
MICROI’HTHALMUS 
IS V 
Dr. E. PFLUEGER 
PROFESSOR OF OPHTHALMOLOGY AT THE UNIVERSITY OF BERNE, SWITZERLAND 
Translated by Dr. A. Schafringer, New York 
[Reprinted from the Archives ok Ophthalmology, Vol. xiv., No. i, 1885. A CASE OF MICROCEPHALUS WITH MICROPH- 
THALMUS. 
Dr. E. PFLUEGER, 
PROFESSOR OF OPHTHALMOLOGY AT THE UNIVERSITY OF BERNE, SWITZERLAND. 
( With plate i.) 
Translated by Dr. A. SchApringer, New York. 
THE case detailed here is that of Emma Blaser, aged 
eleven, of Luetzelflueh, Switzerland, who was an 
inmate of our clinic from November 23 until December 4, 
1882. She was seen again in June, 1883, and exhibited to 
the Medico-Pharmaceutical Society of Berne. The micro- 
cephalus was well marked, though only one of a medium 
degree, and of the variety called trigonocephalus. 
The measurements of the skull were made by Professor 
Flesch, who has had considerable experience in this kind of 
work, and who was assisted by Dr. Freund. The method 
employed was that of Virchow and Rieger. 
I am indebted to Professor Flesch for the outlines of the 
head, reproduced in plate i., and for the following data. 
“ Hair blonde, eyes brown, the same as her mother. Length of 
body, 133 cm. ; height to hip, 78.9 cm.; length of arm, 57 cm. 
Measurements of skull: greatest length, 158 mm.; greatest 
breadth, 130 mm. ; horizontal circumference around occipital pro- 
tuberance and eyebrows, 476 mm.; circumference from glabella 
to occipital protuberance, 290 mm.; from glabella to lowest point 
of occiput between muscles of neck, 328 mm.; frontal circumfer- 
ence, above external auditory canals, 299 mm.; breadth of skull 
between zygomatic arches, xoo mm.; between openings of audi- 
Reprinted from the Archives of Ophthalmology, Vol. xiv., No. 1, 1885. 92 
E. Pjlueger. 
tory canals, 136 mm.; height of face, 109 mm. ; of nose, 59 mm.; 
breadth of face between rami of lower jaw, 86 mm.; length of 
right half of lower jaw, 73 mm.; of left, 71 mm. 
“ The two lateral halves of the skull are asymmetrical, the left 
being less developed anteriorly, the right less developed pos- 
teriorly. The line of circumference shows a marked indentation 
in the temporal region of the right side, and consequently the 
greatest breadth is found far back. The most striking feature of 
the head is the narrowness of its frontal portion, which constitutes it 
a trigonocephalus. The general measurements of the head are not 
excessively small, except those of the frontal segment, the diminu- 
tive proportions of which make it evident that there must be a 
deficient development of the brain.” 
The microphthalmus, like the microcephalus, while not of high 
degree, was well marked and unmistakable. The corneae were not 
circular, but transversely elliptical, the vertical diameter of each 
being 9 mm., the horizontal 10 mm. 
There were two symptoms present which rendered the exami- 
nation of the eyes difficult and incomplete—very violent horizontal 
nystagmus and complete absence of central fixation. The little 
girl habitually held her head inclined to the left, often to such an 
extent that the bridge of her nose was parallel with the line of her 
shoulder, her eyes being rolled to the extreme right, and at the 
same time considerably either above or below the horizontal 
meridian. 
The acuteness of vision could not be determined in either eye, 
owing partly to the great imperfection of the visual power, and 
partly to the deficient development of her intellect. It was evi- 
dent, however, that she used only her right eye for fixation, fixing 
not with the macula lutea of this eye, but with a portion of the 
retina, situated a considerable distance to the outer side of the 
macula, and either above or below the horizontal meridian. The 
refraction of the right eye, as determined by keratoscopy, proved 
to be slightly myopic (i or 2 D.). 
Both corneae were perfectly transparent. The iris of either eye 
was normal in every respect, except as to size. There was no 
coloboma, the pupils being normal in shape, size, and position. 
Atropia caused only incomplete dilatation of the pupils. 
The lens of the right eye was completely transparent. That of 
the left showed partial posterior cortical cataract, which will be 
described further on, and on account of which I performed a Microcephalus xvith Microphthalmus. 
93 
small pear-shaped iridectomy on the nasal side. Although the 
optical conditions of the eye were greatly improved by this oper- 
ation, her visual power did not seem to increase. 
In the background of both eyes were numerous irregular 
yellowish-white atrophic patches, varying in size from a mere dot 
to that of the optic disc, apparently the sequelse of intra-uterine 
retino-chorioiditis. There were also numerous oblong collections 
of dark pigment, the length of some being equal to five or six 
times the diameter of the disc. The most remarkable feature, 
however, were large greenish-blue spaces of oblong form, showing 
a reflex like that of mother-of-pearl. 
In both eyes there was a coloboma of the sheath of the optic 
nerve and of the choroid on the temporal side of the optic disc. 
In the right eye the shape of the disc was a transverse oval. It 
was well defined by the scleral ring above, below, and on the 
nasal side. On the temporal side the vaginal ring was absent, 
and its place was taken by translucent nerve-substance. Here 
the boundary line of the disc was less distinct than normal, and 
showed indentation which made the disc appear slightly heart- 
shaped. 
The choroid receded from the lower periphery of the disc, less 
on the nasal than on the temporal side ; hence the appearance of 
a spherical triangle with an acute angle at the nasal portion of the 
disc. Passing from the nasal to the temporal side of the disc, the 
distance of its periphery from the choroidal margin increased, and 
the choroid, instead of rising on the temporal side in correspond- 
ence to the outline of the disc, kept its direction outward and 
downward, being sharply defined for some distance only. At the 
upper periphery of the optic disc the choroidal border receded 
from the disc, as below, continuing directly outward and upward 
across the fundus, instead of lining the temporal border of the 
papilla. The two sides of the choroidal coloboma formed an 
angle of 50° to 6o°, which was bisected by the horizontal meridian 
of theglobe. 
The coloboma did not show the bright yellowish-white color of 
the bare sclera throughout, but only in areas which were divided 
by accumulations of pigment distributed with a certain degree of 
regularity. The pigment lay in vertical streaks slightly curved, 
the convexity of the curves looking toward the temple. This 
regularity was most striking in the immediate vicinity of the disc, 
so that the lower crescent appeared to be composed of a number 94 
E. Pjlueger. 
of alternately black and yellow vertical arches. This regularity 
was less marked, however, on the temporal side. 
At a distance of from 6-7 P. D., and situated at its outer side, 
there was a curved oblong band running vertically, its length 
equal to 6-8 P. D., and its breadth to about 1 P. D., which 
showed a brilliant greenish-blue reflex. On the outer side of this 
band ran a streak of very black pigment, having at its broadest 
portion a breadth equal to \ P. D. On the outer side of this 
streak the choroid showed the same appearance as in the rest of 
the background, being studded with choroidal exudations, 
atrophic patches, and numerous accumulations of pigment. 
The arrangement of the retinal vessels was strikingly abnormal. 
The main vessels did not run upward and downward, but they all 
ran outward and formed an angle of 450 to 50°. One small ves- 
sel ran upward and inward upon the papilla, and another small 
one downward and inward. Upon reaching the border of the 
disc both suddenly turned and took an outward course, only to 
change it again after running a short distance by returning to the 
disc and traversing it from without inward. The two vessels then 
crossed each other, presenting the appearance of a bow-knot. 
The fundus of the left eye presented changes more pronounced 
and similar, with the following exceptions : There was also a 
coloboma of the sheath of the optic nerve and of the choroid. 
The sides of the choroidal coloboma, however, did not diverge, 
but ran parallel to each other. They could not be traced further 
than the equator, on account of the cortical opacity of the lens. 
The optic disc was not quite so small, but it was more elliptical, its 
vertical diameter being somewhat smaller than that of the right 
disc. The color of the coloboma was darker, with an occasional 
greenish shimmer, and extensive and irregular accumulations of 
pigment. The portions of the choroid immediately adjoining the 
coloboma showed little change, but toward the periphery it had 
undergone extensive changes. Here, as well as in the other eye, 
the atrophic patches were greatly outnumbered by the prolifera- 
tions of pigment. There was also an extensive area of a greenish- 
blue color, resembling the tapetum of animals. Unfortunately, it 
was not possible to thoroughly study all the details. 
The retinal vessels were parallel and ran directly outward, fol- 
lowing the direction of the sides of the choroidal coloboma. 
There were no retinal vessels running in any other direction. 
The calibre of the retinal vessels seemed to be smaller than Microcephalus with Microphthalmus. 
95 
normal, more markedly so in the left eye than in the right. The 
arteries and veins could not be distinguished from each other. 
The color and translucency of the right optic disc was about 
normal, but the left was as opaque as in cases of advanced retino- 
choroidal atrophy. 
The opacity of the left lens mentioned above was situated 
mainly in the posterior cortical substance. It began at the pos- 
terior pole, and was of such shape and size that it just obstructed 
the pupillary area when looked at from in front, before the iridec- 
tomy was performed. From the posterior pole the opacity ex- 
tended outward as far as the equator, forming an isosceles tri- 
angle with the base at the equator. The rounded angle at the 
posterior pole was about 40°. The opacity did not cease at the 
equator, but extended for the distance of 1.5 to 2 mm. into the 
anterior cortical layer. There was evidently a causal relation be- 
tween this opacity of the lens and the choroidal coloboma, as 
evidenced by the correspondence of their location. 
It does not seem to be difficult to find an explanation for 
this anomaly of development. Manz, noticing the frequent 
coincidence of coloboma of the uvea and microphthalmus, 
suggested that microphthalmus might be caused by intra- 
uterine chorioiditis. This supposition was confirmed by 
Deutschmann,1 who had the opportunity of making an 
autopsy of such a case. The present one also tends to 
corroborate the hypothesis of Manz. 
In his review of Deutschmann’s paper in Nagel's Jahres- 
bericht Manz says: “The supposition appears to be very 
plausible that intra-uterine sclero-chorio-retinitis will cause 
incomplete closure of the foetal fissure, or will cause it to re- 
open if already closed. This hypothesis will certainly be 
generally accepted if corroborated by the anatomical exam- 
ination of a few more cases of coloboma bulbi. One thing, 
however, still remains unexplained, namely the fact that the 
inflammatory changes are confined to the neighborhood of 
the ocular fissure.” 
Our case evidently serves to fill a gap here, as in it the 
choroidal changes, though most striking in the neighborhood 
of the coloboma, were well marked throughout the whole 
fundus. 
1 Zehender's klin. Monatsbl., Bd. xix., p. 112. 96 
E. Pflueger. 
The course of the retinal vessels was very peculiar and 
such as I had never before observed in the human being. It 
can be explained by assuming that the cicatricial contraction 
of the choroidal coloboma caused traction upon the retina, 
dragging its upper portion downward and the lower upward. 
The indentation of the outer periphery of the right optic 
disc can also be explained by the cicatricial contraction of 
the sides of the coloboma. This theory seems to be cor- 
roborated by the concentric arrangement of the pigment de- 
posits in the fundus of the right eye. The elliptic form of 
the cornea was another feature for which the theory of 
cicatricial contraction affords a natural explanation. In our 
case, where the direction of this contraction was vertical, the 
greater diameter of the cornea was horizontal, whilst in the 
case published by Deutschmann, in which the direction of 
the coloboma was downward, the lesser axis of the cornea 
was horizontal. 
The outward direction of the coloboma in this case was 
unusual, the coloboma being usually directed downwards. 
This unusual feature can be explained by the hypothesis 
that the foetal cleft is first directed outward, and that a 
gradual rotation of the globe changes this direction down- 
wards, and that in the present case the globe for some 
reason or other had not performed this rotation. 
Frau A. Blaser, aet. forty-four, the girl’s mother, showed 
an abnormal condition of the skull as well as of the eye sim- 
ilar to that exhibited by her daughter only somewhat less 
marked. The greatest horizontal circumference of the skull 
was 530 mm., the left half being larger by 5 mm. than the 
right. Circumference around glabella and occipital protub- 
erance 284 mm., over gabella and muscles of the neck 310 
mm., arch over auditory orifices 360 mm., length about 
170 mm., breadth about 137 mm. 
Both corneae were somewhat smaller than normal and 
slightly elliptical, the vertical diameter being io mm., the 
horizontal u mm. No coloboma. Choroidal ring at outer 
periphery of optic disc very dark. 
Frau Blaser has another daughter who is said to have 
perfectly normal eyes. She has had a third child, which 
died, two hours after birth, from hydrocephalus. Microcephalus with Microphthalmus. 
97 
Frau St., aet. thirty-five, a sister of Frau Blaser, has a 
normal skull, but a slight microphthalmus, the diameter of 
either cornea being only io mm. 
O. s. M. o. 75 and As. m. 0.5, axis vertical, V = 0.5 
O. d. M. 1 and As. m. 0.5, axis vertical, V = 0.75 
Ophthalmoscopic appearances normal. 
Frau Blaser’s father is also said to have abnormal eyes, 
but he could not be prevailed upon to present himself for 
examination. 
Explanation of Plate No /. 
Projection of shape of head according to Rieger and Virchow 
(Sitzungsber. d. phys.-med. Ges. in Wurzburg, 1882, p. 96). 
Sagittal Arch (Glabella and Occipital Protube- 
rance). 
Frontal Arches : 
x. Breadth at auditory orifices. 
2. Arch between auditory orifice and glabella. 
3. Occipital arch, between auditory orifice and occipital pro- 
tuberance. 
These three arches stand vertically upon the horizontal plane. 
Horizontal Planes : 
4. Through occipital protuberance and glabella. 
5. A parallel plane two cm. higher than the preceding. Tab. I 
Itth..Anafc.v.'K.W{t*tz .Darmstadt. 
Archives of Ophthalmol. XIV 
Yerlag v. I.F. Wiesbaden . g. p. putnam’s sons, printers 
NEW YORK