B. Käsmann-Kellner

Ocular Changes in Mucopolysaccharidosis IV A (Morquio A Syndrome) and Long-Term Results of Perforating Keratoplasty

Background: The mucopolysaccharidoses (MPS) are an inhomogeneous group of disorders of errors in the carbohydrate metabolism with severe ocular involvement (corneal opacification, retinal degeneration, optic atrophy). Patient Presentation: We report on a boy aged 12 years, with Morquio A (MPS IV A) syndrome. Ocular findings: progressive pseudoexophthalmus due to shallow orbits, increasing corneal stromal clouding, intermittent dissociated manifest nystagmus of the left eye, nyctalopia. Visual acuity OD cc = 0.16, OS cc = 0.05. Electrophysiology: changes suggesting a symptomatic tapetoretinal degeneration and optic atrophy. Treatment and Course of Disease: OS: perforating keratoplasty. Postoperative improvement of visual acuity to 0.25 for nearly a year, followed by progressive reopacification of the corneal graft. Both eyes: progressive signs of tapetoretinal degeneration and optic atrophy. Visual acuity now reduced to OD 0.05, OS 0.1. Conclusions: Success of a keratoplasty is limited by (1) reopacification of the cornea, (2) visual impairment due to (a) retinal degeneration and (b) optic atrophy. The indication for perforating keratoplasty has to be thought about very carefully in these multimorbid patients. In our patient, beside progressive visual impairment there is a progressive deafness which dominates his social and school life. Attending school is severely complicated by the double handicap. Perforating keratoplasty enabled the boy to attend a school for physically handicapped without a special low-vision care for another year. Progressive visual loss without further treatment options now renders optical and electronic low-vision aids necessary. Although the time of improved visual acuity lasted less than a year, we think patients with a life expectancy of less than 20 years should have every possible improvement of their situation – even if it does not last permanently. We therefore propose perforating keratoplasty in spite of insufficient long-term results.

Vision screening survey of all children starting primary school in 1998 in the Federal State of Saarland, Germany

BACKGROUND. The excellent co-operation with the pediatric public health service of the local health authorities enables us to present the collected results of a vision screening survey of all children starting primary school in 1998 in the Federal State of Saarland. The aim is to analyze the prevalence of amblyopia, strabismus, reduced visual acuity, refractive errors and severe visual impairment in one complete grade of pre-schoolers. METHODS. The examination parameters had been determined in co-operation with the Department of Pediatric Ophthalmology at the University of Saarland and had been fitted to the needs and abilities of lay persons (health workers) doing a vision screening as part of a general health check-up. Parameters were: visual acuity (Rodenstock R21), color vision (Ishihara), stereopsis (Lang), and test for latent hyperopia. Referral to an ophthalmologist if: visual acuity < 0.7; difference in visual acuity in both eyes of more than one line, or any other pathological test result. A total of 12,192 children were screened. RESULTS. The preventive pediatric examinations were complete in 5756 children (56.4%), incomplete in 4449 children (43.6%) and in 1987 children (16.3%) the degree of completion could not be determined. Eyes: pathological findings in 41.7%. Reduced visual acuity in 30.8%, color vision defects in 1.3%, severe visual impairment in 0.3%. Pathological findings in other organ systems: skeleton 33.5%, teeth 32.6%. For the urban confederacy of Saarbr?cken: referrals to ophthalmologists: n=1108. No feedback information: 380; refractive correction: 226; recommendation for regular checks: 346; no pathological findings: 156. CONCLUSION. The high percentage of pathological findings in the vision screening of 12,192 pre-schoolers is an important confirmation that there is a need for a preventive ophthalmologic examination before the age of six. Only an area-wide ophthalmologic vision screening around the second or third year of life can effectively reduce the high prevalence of pathological findings at the time of starting primary school. To improve the present screening situation, networks between ophthalmologists and pediatricians would be beneficial.

Incontinentia pigmenti (Bloch-Sulzberger-Syndrome): Case Report and Differential Diagnosisto Related Dermato-Ocular Syndromes

Background: Incontinentia pigmenti (IP; Bloch-Sulzberger syndrome) is an inherited disorder of skin pigmentation that is associated with skin (100%), dental (90%), skeletal (40%), central nervous (40%) and ocular (35%) abnormalities. The pathogenesis is not yet known. The disease is usually seen in females, as it is an X-linked dominantly inherited disease which is lethal in males. Patient Presentation: We present a 9-year-old girl with the classical general and ocular signs of IP. She presented in early childhood with inflammatory vesicular skin changes which changed into pigmented skin alterations especially on the trunk. Ocular findings were microphthalmia and retrolental mass formation in one eye and retinal pigmentary changes in the other. In our patient, the spontaneous mutation may have been caused by the family’s close neighbourhood to Semipalatinsk, Kasachstan, where regular nuclear tests took place very shortly before the pregnancy with our patient began. Discussion: Ocular involvement is described in about a third of persons affected with IP. A nearly consistent and pathognomonic finding is a pigment retinopathy (mottled diffuse hypopigmentations). A further consistent finding are abnormalities of peripheral retinal vessels with areas of non-perfusion in the outer retina. The retinal pigment epitheliopathy and the abnormalities of retinal vessels are thought to be the underlying pathognomonic findings, with all other ocular signs being secondary (cataract, leucocoria, optic atrophy, strabismus, nystagmus and microphthalmus). Exudative retinal detachment occurs only in a minority, usually in very early childhood, when the skin lesions are exudative as well. IP patients should, however, be clinically observed regularly because of their retinal pigmentary changes.

Developments in eye and general diseases in the Landesschule für Blinde und Sehbehinderte des Saarlandes in the last 20 years

Background: The aim of the study was the evaluation of how ophthalmological diagnoses and the proportion of multiply handicapped children has changed within the last 20 years at a state school for visually handicapped and blind children. Patients and methods: A profile investigation was conducted on all 105 children at the Landesschule für Blinde und Sehbehinderte des Saarlandes and compared to the results of an examination from 1975. Results: The predominant ophthalmological diagnoses were: optic atrophy (17.5 %), ocular albinism (11.9 %), scar-stage IV and V of retinopathy of prematurity (11.1 %), as well as tapetoretinal dystrophies with related syndromes (8.7 %) and myopia magna (7.9 %). Blind: 10.3 % (1975: 36.4 %); visually handicapped: 47.1 % (1975: 49.2 %); multiply handicapped: 42.5 % (1975: 14.4 %). Conclusions: (1) The diseases that dominated in earlier years in schools for the visually handicapped have become rare (cataract, aphakia, buphthalmia, macular dystrophy – all less than 5 %); (2) the proportion of completely blind pupils has become much smaller; (3) there is an increasing tendency to educate visually handicapped pupils in regular schools with integrative aids; (4) there is also an increasing proportion of multiply handicapped children (school and kindergarten: 42 %, early patronage 74 %).Fragestellung: Ziel dieser Studie war die Erfassung der Entwicklungen an einer Landesschule für Blinde und Sehbehinderte im Verlauf der letzten 20 Jahre bezüglich der Diagnosen und des Anteils Mehrfachbehinderter. Patienten und Methode: Untersucht wurden alle 175 Kinder der Sonderschule und der Frühförderung der Landesschule des Saarlands. Die Ergebnissse wurden mit einer Querschnittuntersuchung aus dem Jahr 1975 verglichen. Ergebnisse: Die wesentlichen ophthalmologischen Diagnosen waren: Optikusatrophie (17,5 %), okulärer Albinismus (11,9 %), Narbenstadium IV und V einer Retinopathia praematurorum (11,1 %) sowie tapetoretinale Dystrophien mit verwandten Syndromen (8,7 %) und Myopia permagna (7,9 %). Blind waren 10,3 %, sehbehindert 47,1 %, mehrfachbehindert (sehbehindert/blind) 42,5 % (1975 respektive 36,4 %, 49,2 %, 14,4 %). Schlußfolgerungen: 1. Die Erkrankungen, die früher in einer Sehbehinderten- und Blindenschule dominierten, sind selten geworden (Katarakt, Aphakie, Buphthalmus, Makuladystropie – hier alle je < 5 %). 2. Der Anteil vollblinder Schüler ist deutlich kleiner geworden. 3. Es besteht eine zunehmende Tendenz der integrativen Betreuung sehbehinderter Schüler ohne zusätzliche Behinderungen in Regelschulen. 4. Der Anteil der mehrfachbehinderten Kinder (Schulbereich: 42 %, Frühförderung: 74 %) steigt.

Ein- oder beidseitige Abduzensparese als Erstsymptom einer Sinusvenenthrombose

ZusammenfassungHintergrund. Thrombosen der venösen Sinus sind seltene intrazerebrale Komplikationen der Mastoiditis. Wir berichten über die ophthalmologische klinische Symptomatik dieser sekundären Erkrankung. Patienten und Methode. Zwei Mädchen, 14 und dreieinhalb Jahre alt, wurden wegen Diplopie in unserer Sehschule vorgestellt. Beide hatten vor 1–2 Wochen wegen einer Otitis media Antibiotika erhalten. Sonstige neurologische Defizite wurden nicht beklagt. Orthoptisch bestand bei dem 14-jährigen Mädchen eine beidseitige, bei dem jüngeren eine rechtsseitige Abduzensparese. Die Ophthalmoskopie zeigte in beiden Fällen eine beidseitige Stauungspapille. Kernspintomographisch konnten eine persistierende Otitis media mit Mastoiditis sowie eine Thrombose der Sinus sigmoideus und transversus nachgewiesen werden. Ergebnisse. Nach hochdosierter intravenöser Antibiotikagabe, Vollheparinisierung und bei der 14-jährigen Patientin zusätzlich Mastoidektomie und Hirndrucksenkung mittels Acetazolamid besserte sich der Befund deutlich. Schlussfolgerung. Eine Thrombophlebitis des Sinus sigmoideus nach Knochenarrosion bei Mastoiditis ist eine seltene, aber ernste Komplikation einer Otitis media, die einer sofortigen chirurgischen und antibiotischen Therapie bedarf. Die Symptomatik kann auch erst im Intervall nach vermeintlich abgeheilter Grunderkrankung auftreten.AbstractBackground. Sinus vein thrombosis is a rare intracerebral complication of mastoiditis. We report on the clinical ophthalmologic symptomatology of this secondary illness. Patients and methods. History: two young female patients, aged 14 and 3.5 years, presented at our pediatric ophthalmology section due to diplopia. Both girls had suffered 1–2 weeks earlier from otitis media, which had been treated with antibiotics. Other neurological symptoms were not reported. Clinical course. Best corrected visual acuity was 20/20 OD/OS in both patients. Ocular alignment revealed a bilateral abduction deficit in the 14-year-old girl and a monolateral abduction deficit of the right eye in the younger patient. Ophthalmoscopic examination evidenced bilateral papilledema in both patients. Magnetic resonance tomography and magnetic resonance angiography showed mastoiditis and thrombosis of the sigmoid and transverse sinuses. Therapy. Following mastoidectomy, high-dose antibiotic therapy, and full-dose heparin therapy, rapid improvement occurred. Conclusions. Thrombosis of the sigmoid sinus following mastoiditis is a rare but severe complication of middle ear inflammation. Immediate surgical and antibiotic therapy is necessary. Symptoms can possibly occur even when the primary focus seems to resolve.

Stadiengerechte Therapie der kongenitalen Aniridie

BACKGROUND The main reasons for the markedly reduced visual acuity in pediatric patients with congenital aniridia are foveal dysplasia and optic nerve hypoplasia. During the lifetime a lack of depth of focus and increased sensitivity to glare due to a partly or completely lacking iris may be accompanied by further complications such as cataracts, various types of glaucoma and corneal opacity. THERAPY In principal, microsurgical intervention should be as minimally invasive as possible to avoid excessive intraocular fibrosis. It is not advisable to use any type of esthetic iris substitute in phakic eyes. Cataract surgery should be performed via small incisions with a foldable intraocular lens (IOL) but not by using a 10 mm diameter polymethyl methacrylate (PMMA) anirida IOL. The conservative therapy of the often progressive limbal stem cell deficiency of the cornea includes artificial tears containing unpreserved hyaluronic acid, gels, autologous serum and amniotic membrane transplantation. Limbal transplantation of various kinds with and without penetrating keratoplasty and the Boston keratoprothesis type I should be considered only in cases of significant reduction of visual acuity and/or recurrent epithelial defects. Glaucoma surgery should be performed primarily as trabeculotomy. Drainage devices (e.g. Ahmed valve) are suggested as a second line approach. The risk of scarring of the filtering bleb in trabeculectomy with mitomycin C is very high in childhood and adolescence. CONCLUSIONS The stage-related therapy of congenital aniridia should always be based on a global view of the potentially increasing severity of cataract, glaucoma and corneal limbal stem cell deficiency during the lifetime. Each microsurgical intervention should be performed by the appropriate specialist and should be kept as minimally invasive as possible.

Trabekulotomie vor dem errechneten Geburtstermin

Congenital glaucoma is a disease potentially leading to blindness in children. It poses a diagnostic and therapeutic challenge even though new knowledge has been acquired and a sufficient understanding of the pathogenesis has been gained. New discoveries, such as the exact time when Schlemms canal develops could lead to a prenatal diagnosis and therefore surgical intervention so that other complications including blindness can be avoided. This case report demonstrates that an early prenatal eye screening with ultrasound (after approximately 30 weeks of pregnancy) would be desirable in order to diagnose buphthalmus early and to plan postnatal surgery.

[Stage-related therapy of congenital aniridia].

BACKGROUND The main reasons for the markedly reduced visual acuity in pediatric patients with congenital aniridia are foveal dysplasia and optic nerve hypoplasia. During the lifetime a lack of depth of focus and increased sensitivity to glare due to a partly or completely lacking iris may be accompanied by further complications such as cataracts, various types of glaucoma and corneal opacity. THERAPY In principal, microsurgical intervention should be as minimally invasive as possible to avoid excessive intraocular fibrosis. It is not advisable to use any type of esthetic iris substitute in phakic eyes. Cataract surgery should be performed via small incisions with a foldable intraocular lens (IOL) but not by using a 10 mm diameter polymethyl methacrylate (PMMA) anirida IOL. The conservative therapy of the often progressive limbal stem cell deficiency of the cornea includes artificial tears containing unpreserved hyaluronic acid, gels, autologous serum and amniotic membrane transplantation. Limbal transplantation of various kinds with and without penetrating keratoplasty and the Boston keratoprothesis type I should be considered only in cases of significant reduction of visual acuity and/or recurrent epithelial defects. Glaucoma surgery should be performed primarily as trabeculotomy. Drainage devices (e.g. Ahmed valve) are suggested as a second line approach. The risk of scarring of the filtering bleb in trabeculectomy with mitomycin C is very high in childhood and adolescence. CONCLUSIONS The stage-related therapy of congenital aniridia should always be based on a global view of the potentially increasing severity of cataract, glaucoma and corneal limbal stem cell deficiency during the lifetime. Each microsurgical intervention should be performed by the appropriate specialist and should be kept as minimally invasive as possible.

[Treatment of pediatric cataracts. Part 2: IOL implantation, postoperative complications, aphakia management and postoperative development].

There is a lot of uncertainty concerning intraocular lens (IOL) implantation for pediatric cataracts. The appropriate age which ocular abnormalities are contraindications and according to which formula IOL should be calculated are controversial. In addition to the imperative of identifying postoperative complications, such as secondary cataract formation and secondary glaucoma in a sufficiently timely manner, a modern management of aphakia with refractive compensation and occlusion is necessary. Some easy rules can help prevent pitfalls.ZusammenfassungBezüglich der Intraokularlinsen (IOL)-Implantation bestehen bei der kindlichen Katarakt viele Unsicherheiten. Umstritten sind das geeignete Alter, welche okulären Veränderungen Kontraindikationen darstellen und nach welchen Formeln die IOL berechnet werden sollte. Neben der Notwendigkeit, postoperative Komplikationen wie Nachstarentwicklung und Sekundärglaukom rechtzeitig zu erkennen, ist in der Nachbetreuung ein modernes Aphakiemanagement mit Refraktionsausgleich und Okklusion notwendig. Einige einfache Regeln können hier helfen, Versäumnissen vorzubeugen.AbstractThere is a lot of uncertainty concerning intraocular lens (IOL) implantation for pediatric cataracts. The appropriate age which ocular abnormalities are contraindications and according to which formula IOL should be calculated are controversial. In addition to the imperative of identifying postoperative complications, such as secondary cataract formation and secondary glaucoma in a sufficiently timely manner, a modern management of aphakia with refractive compensation and occlusion is necessary. Some easy rules can help prevent pitfalls.

Behandlung der kindlichen Katarakte

There is a lot of uncertainty concerning intraocular lens (IOL) implantation for pediatric cataracts. The appropriate age which ocular abnormalities are contraindications and according to which formula IOL should be calculated are controversial. In addition to the imperative of identifying postoperative complications, such as secondary cataract formation and secondary glaucoma in a sufficiently timely manner, a modern management of aphakia with refractive compensation and occlusion is necessary. Some easy rules can help prevent pitfalls.ZusammenfassungBezüglich der Intraokularlinsen (IOL)-Implantation bestehen bei der kindlichen Katarakt viele Unsicherheiten. Umstritten sind das geeignete Alter, welche okulären Veränderungen Kontraindikationen darstellen und nach welchen Formeln die IOL berechnet werden sollte. Neben der Notwendigkeit, postoperative Komplikationen wie Nachstarentwicklung und Sekundärglaukom rechtzeitig zu erkennen, ist in der Nachbetreuung ein modernes Aphakiemanagement mit Refraktionsausgleich und Okklusion notwendig. Einige einfache Regeln können hier helfen, Versäumnissen vorzubeugen.AbstractThere is a lot of uncertainty concerning intraocular lens (IOL) implantation for pediatric cataracts. The appropriate age which ocular abnormalities are contraindications and according to which formula IOL should be calculated are controversial. In addition to the imperative of identifying postoperative complications, such as secondary cataract formation and secondary glaucoma in a sufficiently timely manner, a modern management of aphakia with refractive compensation and occlusion is necessary. Some easy rules can help prevent pitfalls.