Ординатура / Офтальмология / Английские материалы / The Pediatric Glaucomas_Mandal, Netland_2006
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Foreword
When I first joined Robert Shaffer, MD and John Hetherington, MD in practice over 30 years ago, Dr Shaffer asked me if I would be interested in focusing on children with glaucoma. He had worked with Dr Barkan and had already developed a large practice in childhood glaucoma, especially the developmental form. That started a long-term interest in this fascinating, rewarding and sometimes discouraging disease. At one point we were seeing as many as one new case a week, which kept us all quite busy. I still see occasional patients on whom I operated 30 years ago who are seeing well and doing fine. That is very gratifying.
As most young physicians, I started out focused on managing the disease but it soon became obvious that managing the family was equally important. Parents of children with developmental glaucoma are often filled with guilt, believing that something they did or did not do caused this terrible affliction that could blind their child. Solving the problem is, of course, the best solution, but helping the parents understand that they are blameless and that the most important thing they can do for their child is to give them lots of love is critical. Some of these patients will inevitably end up blind and they will function much better in the world if they grow up in a loving environment.
Occasionally, after multiple surgeries and continued visual deterioration, the doctor and the parents are faced with the
difficult decision of whether to keep trying. Is the pain and risk of another operation worth it? A psychologist told me many years ago that a child who retains vision till the age of six or beyond will have visual memories that improve his later functioning. These points are nicely made in the conclusion to Chapter 10. Fortunately, these decisions are less common with the advent of antifibrosis agents and drainage implants. At some point however, it may be best to quit. The parents will have to be led to this most difficult decision by the physician.
Finally, experience counts. It is often the first operation that determines the outcome in these children and whenever possible it should be done by an experienced surgeon or team. Since these tend to be rare cases and patients cannot always travel, that will not always be possible. This book will help physicians manage the process of doing the right thing for the right diagnosis at the right time.
I offer my congratulations and thanks to Drs Mandal and Netland for providing all this information in a wonderfully organized and illustrated text that clarifies the diagnosis and treatment of the many forms of childhood glaucoma. I wish it had been available 35 years ago.
H. Dunbar Hoskins, Jr MD
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Preface
The idea for this book originated from patient care. The effort to manage the clinical problems in children with glaucoma revealed the need for up-to-date and organized information about the topic. Over the years, we have met and discussed these problems at length. Our previous writings provided the backbone for this work. We organized our material for an Instruction Course at the American Academy of Ophthalmology, which crystallized our thoughts about the topic.
We have attempted to present evidence-based information about the topic, while providing perspectives from clinical experiences. Other excellent textbooks have appeared in the
past, but are sufficiently outdated to create a need for this book. Significant advances have occurred in genetics, medical therapy, surgical management, and other topics included here.
This book is intended for clinicians who care for pediatric glaucoma patients, including, in particular, glaucoma and pediatric subspecialists. We hope that other practitioners who have contact with pediatric glaucoma patients will find value in it, and that ophthalmology residents and subspecialty trainees will benefit from this information.
Anil K. Mandal, MD
Peter A. Netland, MD, PhD
Drs Mandal and Netland perform Koeppe gonioscopy during an examination under sedation.
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Acknowledgments
We are deeply indebted to our patients, as well as our patients’ parents and families. Caring for these patients has been a group effort, and we appreciate all of the individuals on the ‘team.’ We are also grateful to our families, friends, mentors, and colleagues who provided support and guidance. Medical Publisher Karen Oberheim provided critical early support for the project, as did Senior Editor Natasha Andjelkovic and Assistant Editor Andrea P. Sherman. Joseph Mastellone and Stephen Moser assisted with photography. Jerry Harris at St. Jude Children’s Research Hospital provided assistance with graphic arts. We are especially thankful for the expert assistance of Mary E. Smith, Vijaya K. Gothwal, Anita Fernandez and Joyce Solomon. We thank Richard D. and Gail S. Siegal for their support. We would like to thank the copyeditor, Alison Woodhouse, the proofreader, J. Ian Ross, the indexer, Liza Furnival, and the illustrator Richard Tibbitts. Elsevier provided excellent publishing support through the efforts of Senior Editor Paul Fam, Project Development Manager Amy Head, Project Manager Kathryn Mason, Designer Andy Chapman, Illustration Manager Mick Ruddy and Product Managers Lisa Damico and Gaynor Jones.
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To
my loving parents, Jayalaxmi and Manik, who instilled in me the desire to learn and the enjoyment of teaching
and
my wife, Vijaya, for her constant help and encouragement in this endeavour.
Anil K. Mandal
xiii
To
my patients and their families,
my colleagues and trainees,
and
my supportive family and friends.
Peter A. Netland
xv
Light, my light, the world-filling light, the eye-kissing light, heart-sweetening light!
Ah, the light dances at the center of my life... The butterflies spread their sails on the sea of light. Lilies and jasmines surge up on the crest of the waves of light.
The light is shattered into gold on every cloud and it scatters gems in profusion.
Mirth spreads from leaf to leaf and gladness without measure.
The heaven’s river has drowned its banks and the flood of joy is abroad.
From Gitanjali, Number 57
Rabindranath Tagore, Nobel Laureate 1913
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Chapter 1
Historical perspective of developmental glaucomas
Introduction
Goniotomy
Description of the clinical entity
Microsurgery and trabeculotomy
Introduction
Congenital enlargement of the eye has been recognized since the time of Hippocrates (460–377 BC), Celsus (1st century AD), and Galen (130–201 AD), although buphthalmos or hydrophthalmos were not related to elevated intraocular pressure until the middle of the 18th century. Increased intraocular pressure was mentioned by Berger (1744), but was grouped together with a variety of heterogenous conditions varying from high myopia to anterior staphyloma and anterior megaophthalmos. In 1869, Von Muralt (1869) established the classical type of buphthalmos within the family of glaucoma. Both he and Von Graefe (1869) considered that the enlargement of the cornea was the primary phenomenon, but believed that the clinical picture with its rise of tension was due to a primary intraocular inflammation.
Pathological studies of the late 1800s and early 1900s had detected congenital anomalies in the anterior chamber angle or the absence of Schlemm’s canal. These anomalies were confirmed by Von Hippel (1897), Parsons (1904), and Siegrist (1905). Exhaustive anatomical descriptions appeared in the early to middle 1900s by Gros (1897), Reis (1905–11), Seefelder (1906–1920), and others who demonstrated a number of different malformations of the angle structures as the primary abnormality, with inflammation playing a secondary role.
The poor prognosis of infantile glaucoma changed dramati-
cally in 19382 with the introduction of goniotomy (Greek: gonio = angle + tomein = to cut) by Otto Barkan (Fig. 1.1)
who revived the Italian surgeon de Vincentis’ operation (1892), which ‘incised the angle of the iris in glaucoma.’ Otto Barkan modified de Vincentis’ operation by using a specially designed glass contact lens to visualize angle structures while using a knife to create an internal cleft in the trabecular tissue.3 He called the operation goniotomy and reported several successfully treated cases in congenital glaucoma.4,5 Although instrumentation has since been refined and the operating microscope now permits more precise visualization of the angle structures, the operation has remained essentially unchanged.
In 1949, Barkan described a persisting fetal membrane overlying the trabecular meshwork.5 This was confirmed by Worst (1966) who termed it ‘Barkan’s membrane.’6 Recent pathological studies by Anderson,7–9 Hansson,10 Maul and co-workers,11 and Maumenee12 could find no evidence of a membrane in any of the specimens they examined by light or electron microscopy. Despite this evidence, Worst stated that ‘though histopathological proof of this structure is almost completely lacking . . . this has little influence on the probability that this concept is valid.’13
Goniotomy
As late as 1939, Anderson1 saw little hope for preservation of useful vision in these patients. Despite a detailed evaluation of all known treatment modalities available at that time, he stated that ‘one seeks in vain for a best operation in the treatment of hydrophthalmia.’ He further wrote:
The future of patients with hydrophthalmia is dark. Little hope of preserving sufficient sight to permit the earning of a livelihood can be held out to them. It progresses, as a rule, in a relentless fashion until the best setting for the patient is some institution that caters for the blind.
Figure 1.1 Otto Barkan (1887–1958). Reprinted with permission from Cordes FC, Otto Barkan, MD. Trans Am Ophthalmol Soc 1958; 56:3–4.
1
Historical perspective of developmental glaucomas
Description of the clinical entity
A few classic textbooks that have been written on the subject include Hydrophthalmia or Congenital Glaucoma (Anderson, 1939),1 Congenital and Pediatric Glaucomas (Shaffer and Weiss, 1970),14 and Glaucoma in Infants and Children
(Kwitko, 1973).15
Sir Stewart Duke-Elder (1963) wrote:
Buphthalmos (hydrophthalmos) is the condition wherein developmental abnormalities offer an obstruction to the drainage of the intra-ocular fluids so that the pressure of the eye is raised and a condition of congenital glaucoma results. The essential clinical feature of the anomaly is that the coats of the eye are of sufficient plasticity to stretch under this increment of pressure with the results that the whole globe enlarges, producing an appearance which is said to resemble the eye of an ox.16
Primary congenital glaucoma was described by Shaffer and Weiss (1970) as a specific syndrome as follows:
The most common hereditary glaucoma of childhood, inherited as an autosomal recessive pattern, with a specific angle anomaly consisting of absence of angle recess with iris insertion directly into the trabecular surface. There are no other major abnormalities of development. Corneal enlargement, clouding, and tears in Descemet’s membrane result from elevated intraocular pressure.14
Now it is firmly established that developmental glaucoma has as its hallmark fetal maldevelopment of the iridocorneal angle or goniodysgenesis.17 The anomalies of the angle include trabeculodysgenesis, iridodysgenesis, and corneodysgenesis, either singly or in some combination. The classic defect found in primary congenital glaucoma is isolated trabeculodysgenesis without any evidence of other iris or corneal malformation.
Initial efforts at classification were directed toward eponyms and syndrome names, and many of these terms are now widely employed and recognized. The Shaffer–Weiss (1970) disease classification divides the developmental glaucomas into primary congenital glaucoma, glaucomas associated with developmental anomalies of the eye or the body, and acquired glaucomas.14,18 Recently, an excellent classification system has been described by Hoskins, Shaffer, and Hetherington (1984), which uses clinically identifiable anatomical defects of the eye as the basis of classification.19,20
Microsurgery and trabeculotomy
The classic operation for the treatment of primary congenital glaucoma was Barkan’s goniotomy,2 although there has been increasing use of a newer approach, trabeculotomy ab externo. This procedure was simultaneously and independently described by Burian21,22 and Smith23 in 1960.
In March, 1960, without the aid of an operating microscope, the first external trabeculotomy was performed by Burian on a young girl with Marfan’s syndrome and glaucoma.21 After 2 years, Allen and Burian published another paper on
trabeculotomy ab externo.22 At about the same time (1960) in London, Redmond Smith, an early microsurgeon, developed an operation that he called ‘nylon filament trabeculotomy.’23 This involved cannulating Schlemm’s canal with a nylon suture at one site, threading the suture circumferentially, withdrawing it at another site, and pulling it tight like a bowstring. The surgical technique of trabeculotomy ab externo is basically a combination of that originally evoked by Burian and Smith and modified by Harms (1969),24,25 Dannheim (1971)26,27 and McPherson (1973).28–30
Following World War II, the Zeiss Optical Instrument Company relocated to southern Germany near the ancient university town of Tubingen. Seeking to develop new markets and products, Zeiss approached Harms, who told him ideas for an ophthalmic operating microscope. A prototype was produced, and the era of ophthalmic microsurgery began.
In 1966 Harms organized the First International Symposium of the Microsurgery Study Group in Tubingen. Among the ophthalmologists in attendance was Samuel D. McPherson, Jr., of Durham, NC. Impressed by the excellent results being claimed for external trabeculotomy, McPherson remained after the symposium to observe Harms in surgery and learn the procedure. McPherson then became the ophthalmologist most associated with the procedure in the United States and its most prolific proponent in the American ophthalmic literature.28–31
Throughout the 1960s, the popularity of external trabeculotomy grew in Europe. By the Second International Symposium of the Microsurgery Study Group in Burgenstock in 1968, the procedure was widely used throughout Europe. When Harms and Allen eventually met, Allen was the first to tell Harms of the Iowa City work. Although astonished, Harms thereafter gave Burian and Allen credit for the first description of the procedure.
The introduction of the microsurgical techniques as exemplified by trabeculotomy revolutionized the prognosis for patients with primary congenital glaucoma, with most studies citing an initial success rate of 80–90%.24,28–37 Trabeculotomy ab externo38–39 and goniotomy40 remain as the preferred initial procedure in the surgical management of primary infantile glaucoma.
The need for ‘glaucoma enucleations’ has markedly decreased over the last 50 years, with enucleation for open-angle glaucoma (including congenital glaucoma) now almost fallen into oblivion.41 During the last 50 years, ophthalmological care has improved, various pressure-lowering and antiinflammatory drugs have been developed, new surgical techniques have been introduced, and, probably most importantly, the operating microscope has been incorporated into clinical practice. These advances have enhanced the efficacy of treatment while minimizing complications, which has improved greatly the prognosis for congenital glaucoma.
References
1.Anderson JR. Hydrophthalmia or congenital glaucoma: its causes, treatment, and outlook. Cambridge University Press: London; 1939.
2.Barkan O. Technique of goniotomy. Arch Ophthalmol 1938; 19:217–221.
2
References
3.Barkan O. Goniotomy knife and surgical contact glasses. Arch Ophthalmol 1950; 44:431–433.
4.Barkan O. Goniotomy for the relief of congenital glaucoma. Br J Ophthalmol 1948; 32:701.
5.Barkan O. Technic of goniotomy for congenital glaucoma. Arch Ophthalmol 1949; 41:65.
6.Worst JGF. The pathogenesis of congenital glaucoma. Royal Van Gorcum: Assen, Netherlands; 1966.
7.Anderson DR. Pathology of the glaucomas. Br J Opthalmol 1972; 56:146–157.
8.Anderson DR. The pathogenesis of primary congenital glaucoma, presented at Third Meeting of Pan-American Glaucoma Society, Miami, Florida, Feb 29, 1979.
9.Anderson DR. The development of the trabecular meshwork and its abnormality in primary infantile glaucoma. Trans Am Ophthalmol Soc 1981; 79:458–485.
10.Hansson HA, Jerndal T. Scanning electron microscopic studies of the development of the iridocorneal angle in human eyes. Invest Ophthalmol 1971; 10:252–265.
11.Maul E, Strozzi L, Munoz C, Reys C. The outflow pathway in congenital glaucoma. Am J Ophthalmol 1980; 89:667–673.
12.Maumenee AE. The pathogenesis of congenital glaucoma: a new theory. Trans Am Acad Ophthalmol 1958; 56:507–570.
13.Worst JGF. Congenital glaucoma. Remarks on the aspect of chamber angle, ontogenic and pathogenic background and mode of action of goniotomy. Invest Ophthalmol 1968; 7:127–134.
14.Shaffer RN, Weiss DI. Congenital and paediatric glaucomas. CV Mosby: St. Louis; 1970.
15.Kwitko ML. Glaucoma in infants and children. Appleton-Century, Crofts: Philadelphia; 1973.
16.Duke-Elder S. System of ophthalmology, Vol III, pt 2, Congenital deformities. CV Mosby: St. Louis; 1963:548–565.
17.Jerndal T, Hansson HA, Bill A. Goniodygenesis – a new perspective on glaucoma. Scriptor: Copenhagen; 1978.
18.Hoskins HD Jr, Kass M. Becker-Scheffer’s diagnosis and therapy of the glaucomas, 6th edn. CV Mosby: St, Louis; 1989:356.
19.Hoskins HD Jr, Shaffer RN, Hetherington J. Anatomical classification of the developmental glaucomas. Arch Ophthalmol 1984; 102:1331–1336.
20.Hoskins HD Jr, Hetherington J Jr, Shaffer RN, Welling AM. Developmental glaucomas: diagnosis and classification. Symposium on glaucoma: transactions of the New Orleans Academy of Ophthalmology. CV Mosby: St Louis; 1981:172–190.
21.Burian HM. A case of Marfan’s syndrome with bilateral glaucoma. With a description of a new type of operation for developmental glaucoma (trabeculotomy ab externo). Am J Ophthalmol 1960; 50:1187–1192.
22.Allen L, Burian HM. Trabeculotomy ab externo. A new glaucoma operation. Technique and results of experimental surgery. Am J Ophthalmol 1962; 53:19–26.
23.Smith R. A new technique for opening the canal of Schlemm. Preliminary report. Br J Ophthalmol 1960; 44:370–373.
24.Harms H, Dannehim R. Epicritical consideration of 300 cases of trabeculotomy ab externo. Trans Ophthalmol Soc UK 1969; 89:491–499.
25.Harms H, Dannheim R. Trabeculotomy results and problems. In: Machensen G, ed. Microsurgery in Glaucoma. Second International Symposium of the Ophthalmic Micro-Surgery Study Group. Burgenstock, 1968. Adv Ophthalmol 1970; 22:121–130.
26.Dannheim R. Symposium: microsurgery of the outflow channels. Trabeculotomy. Trans Am Acad Ophthalmol Otolaryngol 1972; 76:375–383.
27.Dannheim R. Synposium: microsyrgery of the outflow channels. Trabeculotomy. Techniques and results. Arch Chili Oftal 1971; 28:149–157.
28.McPherson SD Jr. Results of external trabeculotomy. Am J Ophthalmol 1973; 76:918–920.
29.McPherson SD Jr, McFarland D. External trabeculotomy for developmental glaucoma. Ophthalmology 1980; 87:302–305.
30.McPherson SD Jr, Berry DP. Goniotomy vs external trabeculotomy for developmental glaucoma. Am J Ophthalmol 1983; 95:427–431.
31.McPherson SD, Cline JW, McCurdy D. Recent advances in glaucoma surgery, trabeculotomy, and trabeculectomy. Am Ophthalmol 1977; 9:91–96.
32.Luntz MH. Primary buphthalmos (infantile glaucoma) treated by trabeculotomy ab externo. S Afr Arch Ophthalmol 1974; 2:319–334.
33.Luntz MH, Livingston DG. Trabeculotomy ab externo and trabeculectomy in congenital and adult-onset glaucoma. Am J Ophthalmol 1977; 83:174–179.
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36.Hoskins HD Jr, Hetherington J Jr, Shaffer RN, Welling AM. Developmental glaucoma: therapy. Proceedings of the New Orleans Academy of Ophthalmology Glaucoma Symposium. CV Mosby: St. Louis; 1981:191–202.
37.Gregersen E, Kessing SVV. Congenital glaucoma before and after the introduction of microsurgery. Results of ‘macrosurgery’ 1943–1963 and of ‘microsurgery’ (trabeculotomy/ectomy) 1970–1974. Acta Ophthalmol 1977; 55:422–430.
38.Luntz MH. The advantages of trabeculotomy over goniotomy. J Pediatr Ophthalmol Strabismus 1984; 21:150–153.
39.Hoskins HD Jr, Shaffer RN, Hetherington J. Goniotomy vs trabeculotomy. J Pediatr Ophthalmol Strabismus 1984; 21:153–158.
40.Walton DS. Goniotomy. In: Thomas JV, Belcher CD III, Simmons RJ, eds. Glaucoma surgery, Chapter 11. Mosby Year Book: St. Louis; 1992:107–121.
41.Rohrbach JM, Schlote T, Thiel HJ. Wolfgang Stock, his ophthalmopathologic collection and progress in glaucoma treatment in the 2nd half of the 20th century. Klin Monatsbl Augenheilkd 1998; 213:87–92.
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