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Aniridia, Cataracts, and Wilms Tumor: Reply
578
AMERICAN JOURNAL OF OPHTHALMOLOGY
OCTOBER, 1978
(Am. J. Ophthalmol. 1978) 86:129, by Cotlier, Rose and Moel, is important for several reasons. Most obviously, these monozygous twins are discordant for the development of an overt Wilms tumor, which is an important factor to those trying to understand the basis for devel opment of Wilms tumor in at-risk individ uals. We have recently published data, 1 providing a chromosomal basis for at least some individuals that have aniridia, genitourinary anomalies, and mental re tardation (AGR triad) and are thus known to be at risk for the Wilms tumor. In an addendum to that article we made refer ence to a pair of twins known to have the AGR triad, including one with a Wilms tumor. Those twins are the twins dis cussed in the article by Cotlier, Rose, and Moel. Our chromosome analyses show that both of the twins have identical dele tions of the short arm of chromosome 11, with break points at l l p l 2 and l l p l 5 . 1 . A partial karyotype for each of the twins demonstrates this interstitial deletion (Figure). These twins and their relevant cytogenetic and gene marker data are the subjects of a separate report. The purpos es of this communication are twofold:
mality in patients with the aniridia-Wilms tumor association. 2. To point out that chromosome anal yses done using inadequate techniques can be disastrously misleading, especially in instances where we are trying to sort out the cause and pathogenetic mecha nisms for embryonal tumors. We urge that all instances of aniridia, particularly if associated with other anomalies, with or without the Wilms tumor, be studied by the newer sophisticated chromosome analysis techniques. We thus share the enthusiasm of Dr. Cotlier and his associates for elaborating on details about these children. Addition ally, we wish to clarify that their chromo some constitutions do indeed include del(llp).
1. To make certain that readers of T H E JOURNAL understand that the twins re ported by Cotlier, Rose, and Moel, con trary to their statements about normal chromosomes, do indeed have a deletion of the short arm of chromosome 11. This is important in view of the recent wide spread interest in the association of this relatively consistent chromosome abnor-
Reply
f
V
Figure (Ricchardi and Borges). In each chromo some 11 pair, the d e l ( l l p ) is on the reader's left.
V I N C E N T M. RICCARDI,
Houston, WAYNE BORGES,
Chicago,
M.D.
Texas M.D.
Illinois
REFERENCE 1. Riccardi, V. M., and associates: Chromosomal imbalance in the aniridia-Wilms tumor association. l i p Interstitial deletion. Pediatrics 61:604, 1978.
Editor: Drs. Riccardi and Borges' chromosomal studies on the twins, which we reported in our paper, revealed a deletion of chro mosome 11; thus, providing a solid basis for the genetic abnormality in this syn drome. We are most thankful for this update on the clinical study conducted in 1974 at the University of Illinois Eye and Ear Infirmary, Chicago, Illinois. A nonbanded chromosome analysis conducted before 1974 at Children's Me morial Hospital, Chicago, and a banded chromosome analysis at a commercial laboratory had been interpreted as nor mal. Two of the three cases reported by Riccardi and associates 1 also had previ-
VOL. 86, NO. 4
CORRESPONDENCE
ous chromosome analysis which were re ported as normals. The awareness of l i p interstitial deletion in the aniridia-Wilms' tumor syndrome should encourage de tailed chromosome studies in these pa tients. EDWARD COTLIER
New Haven,
Connecticut
Color Defective Individuals Editor: I wish to comment on the letter by S. Pearl, "Color defective individuals" (Am. J. Ophthalmol. 85:722, 1978). I would like to stress two important points that were not brought out by Drs. Pokorny and Smith in their reply to Dr. Pearls' letter. Dr. Pearl had encountered a "red color-blind" patient, who apparently had some rectal bleeding that Dr. Pearl concluded the patient failed to realize because of the patient's "color blindness." The first important point is that this patient was not really "red color-blind." It was not that the patient did not see the blood in his stool, but that he did not recognize it as being red in color. As he states in his letter, the patient, "realized in retrospect that there had been 'a pecu liar color change' in the customary brown color with which he was familiar." Thus in actuality this patient was aware of a change in color of his stools, and despite being "color-blind" he still could have reported the color change, no matter what color it was. We often think that "color blind individuals" are " b l i n d " to the vari ous colors involved, but almost always these colors are perceived by them, but excite a different sensation than in other so-called "normal individuals." The final point I wish to emphasize is that color screening should be performed routinely at least in all male children at the time of their first eye examination if they are old enough to cooperate; or at
579
their next annual or biannual examination until this is completed. It is inexcusable for this individual to learn of his color vision proficiency at the time of applying for entrance to a military academy, or to take a test to become an airline pilot, fireman, or the like. The test with either the Ishihara or H-R-R plates is simple and easily performed by a physician himself or a trained assistant. The H-R-R plates are preferred since blue-yellow deficien cies can also be detected in addition to red-green. JOEL PORTER,
Daly City,
M.D.
California
Adult Metachromatic Leukodystrophy Editor: I was interested to see the report "The ultrastructure of the retina in adult meta chromatic leukodystrophy" (Am. J. Oph thalmol. 85:841, 1978), by H. Goebel, K. Shimokawa, A. Argyrakis, and H. Pitz. However, the authors in their introduc tion state that, to their knowledge, their report represents the first account of the ultrastructure of the retina in adult meta chromatic leukodystrophy. Richard Green and I reported the clinical and ultrastructual ocular histopathologic studies of adult-onset metachromatic leukodystro phy in which not only ultrastructure of the retina, but also of the optic nerve were reported along with clinical studies of the patient during life and including fluorescein a n g i o g r a p h y a n d e l e c t r o r e t i n o graphy. 1 It was interesting to us that Goebel and associates found as we did that there was no metachromasia by light microscopic histochemistry in the retina, whereas the optic nerve did show extensive metachro masia. Although they found a few gangli on cells involved by abnormal inclusions, their histochemistry suggests that the major abnormality, which would have
AMERICAN JOURNAL OF OPHTHALMOLOGY
OCTOBER, 1978
(Am. J. Ophthalmol. 1978) 86:129, by Cotlier, Rose and Moel, is important for several reasons. Most obviously, these monozygous twins are discordant for the development of an overt Wilms tumor, which is an important factor to those trying to understand the basis for devel opment of Wilms tumor in at-risk individ uals. We have recently published data, 1 providing a chromosomal basis for at least some individuals that have aniridia, genitourinary anomalies, and mental re tardation (AGR triad) and are thus known to be at risk for the Wilms tumor. In an addendum to that article we made refer ence to a pair of twins known to have the AGR triad, including one with a Wilms tumor. Those twins are the twins dis cussed in the article by Cotlier, Rose, and Moel. Our chromosome analyses show that both of the twins have identical dele tions of the short arm of chromosome 11, with break points at l l p l 2 and l l p l 5 . 1 . A partial karyotype for each of the twins demonstrates this interstitial deletion (Figure). These twins and their relevant cytogenetic and gene marker data are the subjects of a separate report. The purpos es of this communication are twofold:
mality in patients with the aniridia-Wilms tumor association. 2. To point out that chromosome anal yses done using inadequate techniques can be disastrously misleading, especially in instances where we are trying to sort out the cause and pathogenetic mecha nisms for embryonal tumors. We urge that all instances of aniridia, particularly if associated with other anomalies, with or without the Wilms tumor, be studied by the newer sophisticated chromosome analysis techniques. We thus share the enthusiasm of Dr. Cotlier and his associates for elaborating on details about these children. Addition ally, we wish to clarify that their chromo some constitutions do indeed include del(llp).
1. To make certain that readers of T H E JOURNAL understand that the twins re ported by Cotlier, Rose, and Moel, con trary to their statements about normal chromosomes, do indeed have a deletion of the short arm of chromosome 11. This is important in view of the recent wide spread interest in the association of this relatively consistent chromosome abnor-
Reply
f
V
Figure (Ricchardi and Borges). In each chromo some 11 pair, the d e l ( l l p ) is on the reader's left.
V I N C E N T M. RICCARDI,
Houston, WAYNE BORGES,
Chicago,
M.D.
Texas M.D.
Illinois
REFERENCE 1. Riccardi, V. M., and associates: Chromosomal imbalance in the aniridia-Wilms tumor association. l i p Interstitial deletion. Pediatrics 61:604, 1978.
Editor: Drs. Riccardi and Borges' chromosomal studies on the twins, which we reported in our paper, revealed a deletion of chro mosome 11; thus, providing a solid basis for the genetic abnormality in this syn drome. We are most thankful for this update on the clinical study conducted in 1974 at the University of Illinois Eye and Ear Infirmary, Chicago, Illinois. A nonbanded chromosome analysis conducted before 1974 at Children's Me morial Hospital, Chicago, and a banded chromosome analysis at a commercial laboratory had been interpreted as nor mal. Two of the three cases reported by Riccardi and associates 1 also had previ-
VOL. 86, NO. 4
CORRESPONDENCE
ous chromosome analysis which were re ported as normals. The awareness of l i p interstitial deletion in the aniridia-Wilms' tumor syndrome should encourage de tailed chromosome studies in these pa tients. EDWARD COTLIER
New Haven,
Connecticut
Color Defective Individuals Editor: I wish to comment on the letter by S. Pearl, "Color defective individuals" (Am. J. Ophthalmol. 85:722, 1978). I would like to stress two important points that were not brought out by Drs. Pokorny and Smith in their reply to Dr. Pearls' letter. Dr. Pearl had encountered a "red color-blind" patient, who apparently had some rectal bleeding that Dr. Pearl concluded the patient failed to realize because of the patient's "color blindness." The first important point is that this patient was not really "red color-blind." It was not that the patient did not see the blood in his stool, but that he did not recognize it as being red in color. As he states in his letter, the patient, "realized in retrospect that there had been 'a pecu liar color change' in the customary brown color with which he was familiar." Thus in actuality this patient was aware of a change in color of his stools, and despite being "color-blind" he still could have reported the color change, no matter what color it was. We often think that "color blind individuals" are " b l i n d " to the vari ous colors involved, but almost always these colors are perceived by them, but excite a different sensation than in other so-called "normal individuals." The final point I wish to emphasize is that color screening should be performed routinely at least in all male children at the time of their first eye examination if they are old enough to cooperate; or at
579
their next annual or biannual examination until this is completed. It is inexcusable for this individual to learn of his color vision proficiency at the time of applying for entrance to a military academy, or to take a test to become an airline pilot, fireman, or the like. The test with either the Ishihara or H-R-R plates is simple and easily performed by a physician himself or a trained assistant. The H-R-R plates are preferred since blue-yellow deficien cies can also be detected in addition to red-green. JOEL PORTER,
Daly City,
M.D.
California
Adult Metachromatic Leukodystrophy Editor: I was interested to see the report "The ultrastructure of the retina in adult meta chromatic leukodystrophy" (Am. J. Oph thalmol. 85:841, 1978), by H. Goebel, K. Shimokawa, A. Argyrakis, and H. Pitz. However, the authors in their introduc tion state that, to their knowledge, their report represents the first account of the ultrastructure of the retina in adult meta chromatic leukodystrophy. Richard Green and I reported the clinical and ultrastructual ocular histopathologic studies of adult-onset metachromatic leukodystro phy in which not only ultrastructure of the retina, but also of the optic nerve were reported along with clinical studies of the patient during life and including fluorescein a n g i o g r a p h y a n d e l e c t r o r e t i n o graphy. 1 It was interesting to us that Goebel and associates found as we did that there was no metachromasia by light microscopic histochemistry in the retina, whereas the optic nerve did show extensive metachro masia. Although they found a few gangli on cells involved by abnormal inclusions, their histochemistry suggests that the major abnormality, which would have