Julia Fricke

Counterrotation of the globe in macular translocation

Abstract Background: Macular translocation is a new treatment option in age-related maculopathy. The aim of this study was to report experience with the handling of the sensory problems concerning subjective cyclorotation and binocularity that arise with this technique. Methods: The data of 33 patients who had undergone macular translocation and counterrotation of the globe by muscle surgery in a first operation, followed by silicone oil removal and sometimes revision of the eye muscles in a second operation, were evaluated. The counterrotation consisted of a partial transposition of the rectus muscles and extensive surgery on the anterior margins of the oblique eye muscles. Subjective monocular cyclorota- tion, motility and binocularity were tested. Results: In 5 patients after the two operations binocular single vision was proved; in one of these cases there was even stereoscopic function. Seventeen patients excluded one eye: 13 excluded the operated eye, 4 the fellow eye. Eleven patients experienced double vision or tilted images under binocular viewing conditions and thus required further surgery or occlusion of one eye. Conclusion: The majority of patients were not hindered by subjective cyclorotation. Nevertheless, in a large proportion of patients binocularity could not be reestablished because of still reduced visual acuity or cyclotropia. The data show that the aim of restoring binocularity can be achieved but in practice is often not attained.

Modified transposition procedure of the vertical recti in sixth nerve palsy

PURPOSE To report a modified transposition procedure of the vertical recti for severely limited abduction of the globe caused by sixth nerve palsy and to compare this with the Hummelsheim transposition procedure. METHODS Retrospective study of 13 eyes of 12 patients that had Hummelsheim transposition procedure and 19 eyes of 17 patients that had modified transposition procedure of the vertical recti for severely limited abduction of the globe caused by sixth nerve palsy. The modified transposition procedure joins lateral strips of the vertical recti and sutures this junction to the lateral rectus muscle. Functional results of the Hummelsheim procedure are compared with functional results of the modified transposition procedure. RESULTS Abductive capacity improved by 4.19 +/- 1.67 mm in the Hummelsheim group and 4.08 +/- 1.7 mm in the modification. The angle of squint changed from +22.33 +/- 6.74 degrees to -0.20 +/- 2.61 degrees in the Hummelsheim group and from +25.54 +/- 5.66 degrees to +0.95 +/- 5.26 degrees in the modification group. The functional results as to abductive capacity and postoperative angle of squint showed no significant difference between the two methods (P >.05, t test). The modification was less time consuming. CONCLUSIONS A modification of the transposition techniques of eye muscles in sixth nerve palsy is introduced. Its functional results are comparable to the classic technique of Hummelsheim. Operative risk and trauma are reduced, because the technique avoids scleral stitches and was found to be less time consuming than the Hummelsheim procedure.

Ocular neuromyotonia: a case report.

Ocular neuromyotonia is a rare motility disorder occurring after tumor irradiation near the skull base or as a consequence of vascular abnormalities. Ocular myasthenia, convergence spasm and a cyclic third nerve palsy must be considered as differential diagnoses. The case of a 32-year-old woman suffering from intermittent diplopia six months after radiation therapy of a recurrent pituary gland adenoma is presented.

Late onset of Leber’s hereditary optic neuropathy in HIV infection

Editor,—We report a case of late onset of Leber’s hereditary optic neuropathy (LHON) in a 59 year old patient with HIV infection being treated long term since 1991 with zidovudine. The onset and course of the patient’s eye disease as well as the diagnostic process were analysed. Molecular genetic testing revealed the mitochondrial DNA (mtDNA) mutation in nucleotide position 11778 confirming the diagnosis of LHON. In our patient late disease expression may be interpreted as a result of the rare combination of the 11778 mutation with HIV infection and long term zidovudine treatment. This is the first report on a patient with LHON suffering from additional HIV infection. ### CASE REPORT A 59 year old white man was admitted to our outpatient department in July 1997 with acute onset of vision loss in his left eye within the previous 2 weeks. The …

Ophthalmological manifestations of Parry-Romberg syndrome

Parry-Romberg syndrome is a rare disease characterized by slowly progressive atrophy affecting facial subcutaneous tissues, including the underlying muscles and osteocartilaginous structures. Various periocular, ocular, and neuro-ophthalmological manifestations have been described in Parry-Romberg syndrome. The most common periocular disorders include enophthalmos, eyelid, and orbit alterations. The most frequent ocular disorders include corneal and retinal changes, and the most common neuro-ophthalmological disorders involve optic nerve, ocular motor and pupillary dysfunction. Besides the characteristic facial abnormalities, systemic manifestations may occur, including neurologic, dermatologic, cardiac, endocrine, infectious, orthodontic, and maxillofacial disorders. So far, mainly brief case reports describe these ophthalmological findings. Therefore, we summarize the ocular, periocular, and neuro-ophthalmological findings in detail, describe diagnostic modalities, and outline therapeutic options.

A Novel Large In-Frame Deletion within the CACNA1F Gene Associates with a Cone-Rod Dystrophy 3-Like Phenotype

Cone-rod dystrophies (CORDs) represent a heterogeneous group of monogenic diseases leading to early impairment of vision. The majority of CORD entities show autosomal modes of inheritance and X-linked traits are comparably rare. So far, three X-chromosomal entities were reported (CORDX1, -X2 and -X3). In this study, we analysed a large family of German origin with solely affected males over three generations showing a CORDX-like phenotype. Due to the heterogeneity of cone-rod dystrophies, we performed a combined linkage and X-exome sequencing approach and identified a novel large intragenic in-frame deletion encompassing exons 18 to 26 within the CACNA1F gene. CACNA1F is described causative for CORDX3 in a single family originating from Finland and alterations in this gene have not yet been reported in other CORDX pedigrees. Our data independently confirm CACNA1F as the causative gene for CORDX3-like phenotypes and detailed clinical characterization of the family expands the knowledge about the phenotypic spectrum of deleterious CACNA1F alterations.

Congenital Cranial Dysinnervation Disorders: Facts and Perspectives to Understand Ocular Motility Disorders

Congenital cranial dysinnervation disorders (CCDDs) are a group of neurodevelopmental diseases of the brainstem and the cranial nerves. Endogenic or exogenic disturbances lead to a primary dysinnervation of structures supplied by cranial nerves. Motility disturbances and potentially structural changes occur. Secondary dysinnervation occurs if fibers of other cranial nerves innervate the primarily misinner-vated structures. Synkinetic movements or cocontractions of antagonists result and may lead to structural changes in the muscles involved. Neurogenetic studies proved congenital fibrosis of the extraocular muscles (CFEOM), isolated and syndromic forms of Duane syndrome and horizontal gaze palsy with progressive scoliosis (HGPPS) to be related to mutations in genes that play a role in brainstem and cranial nerve development. By clinical features and theoretic considerations some forms of congenital ptosis, congenital fourth nerve palsy, Mobius syndrome and Marcus Gunn jaw winking phenomenon are understood as CCDDs. Other congenital disturbances of ocular motility with fibrotic features such as congenital Brown syndrome, congenital monocular elevation palsy and vertical retraction syndrome may be discussed as CCDDs.

Makulatranslokation mit 360°-Retinotomie zur Behandlung der exsudativen Makuladegeneration: Funktionelle und angiographische Ergebnisse

ZusammenfassungHintergrund. Mit dem Ziel einer Stabilisierung oder Verbesserung der visuellen Funktion von Patienten mit altersabhängiger Makuladegeneration (AMD) wurde die Translokation der Makula auf gesundes Pigmentepithel (RPE) nach Extraktion einer chorioidalen Neovaskularisation (CNV) entwickelt. Methodik. In einer prospektiven Fallserie nach kontrolliertem Operations- und Untersuchungsprotokoll wurden funktionelle und angiographische Veränderungen nach Makulatranslokation bei 100 Patienten im Verlauf eines Jahres untersucht. Das operative Vorgehen umfasst eine Phakoemulsifikation und Implantation einer Hinterkammerlinse, vollständige Vitrektomie, induzierte Netzhautablösung, 360° anteriore Retinotomie, Entfernung des subretinalen Membrankomplexes, Translokation der Fovea aus dem RPE-Defekt, Wiederanlage der Netzhaut unter Verwendung von Perfluorcarbonen, Endolaserkoagulation und temporäre Silikonöltamponade. Überwiegend erfolgte eine Zyklorotation des Bulbus in Kombination mit dem Primäreingriff oder der Silikonölablassung. Patienten. Im Zeitraum Dezember 1997 bis Dezember 1999 wurden 100 Patienten am Zentrum für Augenheilkunde der Universität zu Köln nach dieser Technik operiert. Alle Patienten hatten eine Visusreduktion infolge einer chorioidalen Neovaskularisation bei AMD erlitten. Bei 26 Patienten lag eine nach rtPA- und Gasinjektion persistierende submakuläre Blutung vor, bei 39 Patienten bestand eine okkulte CNV, bei 25 Patienten eine klassische CNV, bei 10 Patienten lagen andere Formen (polypoidale Vaskulopathie, Pigmentepitheleinriss, chorioretinale Anastomosen) vor. Ergebnisse. Es konnten 97 Patienten über 12 Monate postoperativ kontrolliert werden. Die Sehschärfe stieg 12 Monate postoperativ bei 24 Patienten um mindestens 15 ETDRS-Zeichen an, blieb bei 42 Patienten stabil und fiel um mindestens 15 ETDRS-Zeichen bei 34 Patienten ab. Die Silikonöltamponade war bei 97 Patienten entfernt worden. Ein Revisionseingriff wegen schwerer Komplikationen wurde bei 25 Patienten notwendig (primäre PVR n=9, sekundäre PVR n=10, Makulapucker n=5, Makulaforamen n=1). Als weitere Komplikationen traten eine persistierende okuläre Hypotonie, Keratopathie, IOL-Dislokation, Makulaödem, CNV-Rezidiv (n=3) und Zyklodeviation auf. Schlussfolgerung. Das Operationsverfahren stellt einen aufwändigen und technisch anspruchsvollen Eingriff mit langer Lernphase sowie einem hohen intraoperativen und postoperativen Komplikationsprofil dar. Nach unseren Ergebnissen erscheint die Makulatranslokation dennoch eine aussichtsreiche Therapieform für ausgewählte Patienten mit exsudativer AMD zu sein.AbstractBackground. During surgical extraction of choroidal neovascular membranes (CNV) in age-related macular degeneration (AMD), the defective foveal retinal pigment epithelium (RPE) is removed. Subsequent translocation of the foveal neural retina to adjacent healthy RPE should result in stabilization and possibly improvement of visual acuity. Methods. A prospective case series was carried out using controlled surgery and examination protocols with examinations made at fixed intervals. The surgical procedures combine counterrotation of the globe, phacoemulsification and implantation of a posterior chamber lens, complete vitrectomy, induction of a total retinal detachment, 360° anterior retinotomy, removal of the subfoveal neovascular complex, foveal translocation outside the RPE defect, reattachment of the retina using F6H8, peripheral laser retinopexy and temporary silicone oil tamponade. Patients. Macular translocation surgery was performed on 100 patients between December 1997 and December 1999. All patients had experienced recent visual loss due to exudative AMD and of these, 26 patients had major macular subretinal hemorrhage, 39 patients had occult and 25 patients classic subfoveal choroidal neovascularization. The preoperative findings in the remaining patients included tears in the pigment epithelium (n=4), polypoidal choroidal vasculopathy (n=1), recurrent subfoveal CNV following laser therapy (n=2) and deep retinal vascular anomalous complexes (n=3). Results. A total of 97 patients completed the 12-month examination. Visual acuity increased by 15 or more ETDRS chart letters in 24 patients, remained stable in 42 patients and deteriorated by 15 or more EDTRS chart letters in 34 patients 12 months postoperatively. The silicone oil tamponade was removed in 97 patients, in 10 patients, silicone oil had to be reinjected because of severe complications. A secondary procedure was necessary in 25 patients, primary PVR was observed in 9 eyes, secondary PVR deve-loped in 10 eyes, a macular pucker in 5 eyes and a macular hole in 1 patient. Other postoperative complications included persistent hypotonia, macular edema, IOL dislocation, keratopathy and recurrent CNV (n=3). Conclusions. Macular translocation is a technically demanding operation, which requires a considerable learning curve. Although the procedure has a high rate of surgical and postoperative complications, the functional and anatomical results appear to be promising for selected patients with subfoveal CNV secondary to AMD.

SDOCT Thickness Measurements of Various Retinal Layers in Patients with Autosomal Dominant Optic Atrophy due to OPA1 Mutations

Purpose. To specify thickness values of various retinal layers on macular spectral domain Optical Coherence Tomography (SDOCT) scans in patients with autosomal dominant optic atrophy (ADOA) compared to healthy controls. Methods. SDOCT volume scans of 7 patients with ADOA (OPA-1 mutation) and 14 healthy controls were quantitatively analyzed using manual grading software. Mean thickness values for the ETDRS grid subfields 5–8 were calculated for the spaces neurosensory retina, retinal nerve fiber layer (RNFL), ganglion cell layer (GCL), a combined space of inner plexiform layer/outer plexiform layer/inner nuclear layer (IPL+INL+OPL), and a combined space of outer nuclear layer/photoreceptor layers (ONL+PL). Results. ADOA patients showed statistically significant lower retinal thickness values than controls (P < 0.01). RNFL (P < 0.001) and GCL thicknesses (P < 0.001) were significantly lower in ADOA patients. There was no difference in IPL+INL+OPL and in ONL+PL thickness. Conclusion. Manual subanalysis of macular SDOCT volume scans allowed detailed subanalysis of various retinal layers. Not only RNFL but also GCL thicknesses are reduced in the macular area of ADOA patients whereas subjacent layers are not involved. Together with clinical findings, macular SDOCT helps to identify patients with suspicion for hereditary optic neuropathy before genetic analysis confirms the diagnosis.

Analysis of the CHN1 gene in patients with various types of congenital ocular motility disorders

BackgroundMutations in the gene CHN1 have been described in autosomal dominant Duane’s retraction syndrome (DRS) and mutations have been shown to interfere with normal innervation of target eye muscles by oculomotor axons in chick embryos. We screened for CHN1 mutations in patients with various congenital ocular motility disorders.MethodsAltogether, 29 patients with different congenital ocular motility disorders and a positive family history of congenital ocular motility disturbances or strabismus or bilateral affection or accompanying congenital disorders were enrolled in this study. DNA samples of patients suffering from DRS (n = 5), Brown syndrome (n = 13), other congenital motility disorders of the oblique eye muscles (n = 6), double elevator palsy (n = 4), and vertical retraction syndrome (n = 1) were investigated by direct sequencing of all coding exons of CHN1.ResultsIn the families of our index patients with DRS, other family members displayed DRS, see-saw nystagmus, infantile esotropia, microtropia, or Brown syndrome, respectively. In the families of our patients with cases of Brown syndrome, bilateral abduction deficiency, infantile esotropia, and unspecified strabismus occurred. The patients with congenital disorders of the oblique muscles and with congenital elevation deficiencies other than Brown syndrome had relatives with ptosis, infantile esotropia, DRS, congenital abduction deficiency, and unspecified forms of strabismus. Thus a considerable intrafamilial overlap between different types of congenital forms of motility disorders and strabismus does exist. No mutations were detected in the CHN1 gene in our patients. In addition to known polymorphisms, we identified four novel heterozygous single-nucleotide substitutions, one in the 5′UTR, two in intronic regions, and one in the coding region leading to a synonymous amino acid substitution.ConclusionsWe found no evidence for a causative involvement of CHN1 mutations in congenital ocular motor anomalies different from autosomal dominant Duane’s retraction syndrome and provide further evidence for genetic heterogeneity in familial forms of DRS.