Efficacy of Vertical Muscle Transpositions with and without Simultaneous Rectus Muscle Recession for Unilateral Sixth Nerve Palsy

Background We report results of a modified vertical muscle transposition procedure according to the Hummelsheim principle - with and without simultaneous rectus muscle recession - for unilateral sixth nerve palsy. We examine the influence of the duration of the palsy, preoperative angle of squint and preoperative abductive capacity on surgical results of the procedures. Patients and Methods Retrospective study of 29 consecutive patients with unilateral abducens nerve palsy who underwent surgery between 2001 and 2012. 21 patients had a modified vertical rectus muscle transposition according to the Hummelsheim principle (HUM); 8 patients had this operation combined with simultaneous medial rectus muscle recession (HUM+I). Surgery was performed at least 9 months after onset of the palsy (HUM: 9 to 98, median 19, mean 30 months; HUM+I: 12 to 65, median 25, mean 29 months). Results The median preoperative angle of squint (far distance) for the HUM group was 27.0 degrees (20.0 to 45.0; mean 28.1 degrees), and for the HUM+I group 30.5 degrees (21.8 to 50.0; mean 33.4 degrees). The median preoperative abductive capacity was for -1,6mm before midline (-8.0 to + 1.2; mean -1.8mm) for the HUM group, and -3.0mm before midline (-10.0 to -1.0; mean -4.1mm) for the HUM+I group. The median postoperative angle of squint (far distance) was 0 degrees (-11.3 to + 20.0; mean 0.1 degrees) for the HUM group, and -2.3 degrees (-11.3 to + 12.0; mean -2.1 degrees) for the HUM+ I group. The median post-operative abductive capacity was 1.0 mm (0 to + 3.0; mean + 1.1 mm) for the HUM group, and 1.1mm (-1.2 to + 3.0; mean + 0.9mm) for the HUM+ I group. The median reduction of squint angle was 27.0 degrees (9.1 to 45.0; mean 28.0 degrees) for the HUM group, and 36.8 degrees (25.2 to 41.4; mean 35.5 degrees) for the HUM+ I group. The median effect on abductive capacity was 2.5 mm (0 to 11.0; mean + 2.9 mm) for the HUM group, and 4.6 mm (2.4 to 8.8; mean + 5.0 mm) for the HUM+ I group. In the HUM group, the effect on squint angle reduced with the duration of the palsy, whereas, in the HUM+ I group, the effect improved with the duration of the palsy. Conclusions For patients with unilateral sixth nerve palsy, simultaneous medial rectus recession increases the effect of modified vertical rectus muscle surgery according to the Hummelsheim principle. The duration of the palsy is a relevant parameter for the selection of a sole or combined intervention with medial rectus recession

Differential Diagnosis of Acquired Esotropia in the Elderly

Aim To provide an overview of the differential diagnoses of acquired esotropia that occur in the elderly and to facilitate their differentiation in everyday clinical practice. Methods The data of all patients who presented in our outpatient university department for strabology and neuroophthalmology from March 2014 to October 2015 due to esotropia with diplopia with onset after age 50 were evaluated retrospectively. Exclusion criteria were a known strabismus before the age of 50 and/or vertical deviations in the primary position. Anamnestic characteristics, accompanying findings and orthoptic parameters, were analysed. Results 85 patients were included in the study, 42 of them female and 43 male. The following diagnoses were made: abducens nerve palsy (n=34, 3 of them both sides), esotropia due to myopia magna (n=12), esotropia with accompanying neurological symptoms (n=6) and other etiology (n=5). In 4 cases, the diagnosis was still unclear at the end of the study. In 24 patients, none of the above diagnoses existed and the diagnosis of sagging eye syndrome (ETSAG) was made. The abducens nerve palsy typically showed a sudden onset of double vision, slowed abduction saccades and asymmetrical abduction ability. With unilateral abducens nerve palsy, the esotropia increased continuously from the view to the unaffected side through the primary position to the view to the affected side. Patients with ETSAG and myopia-associated esotropia, on the other hand, reported a gradual onset of double vision, showed normal abduction saccades and a slightly reduced abduction ability. The squint angle often increased slightly to both sides. Esotropia with accompanying neurological symptoms was rare and was seen in various underlying diseases. Conclusions The kind of onset of the double vision, the quality of the saccades, the incomitance pattern and the ability to abduct are important parameters for the etiological assignment of an esotropia in the elderly. The characteristics of the individual diagnoses are described and differential diagnostic aspects are discussed. Zusammenfassung Ziel der Studie Diese Studie soll einen uberblick uber die im Alter auftretenden Formen der Esotropie geben und deren Differenzierbarkeit im klinischen Alltag erleichtern. Methoden Die Daten aller Patienten, die sich von Marz 2014 bis Oktober 2015 aufgrund einer im Alter von uber 50 Jahren neu aufgetretenen Esotropie mit Diplopie in der Ambulanz unseres universitaren Schwerpunkts fur Strabologie und Neuroophthalmologie vorstellten, wurden retrospektiv ausgewertet. Ausschlusskriterien waren eine bekannte, vor dem 50.Lebensjahr bestehende Schielerkrankung und/oder Vertikalabweichungen in Primarposition. Analysiert wurden anamnestische Charakteristika, Begleitbefunde und orthoptische Parameter. Ergebnisse 85 Patienten konnten in die Studie eingeschlossen werden, davon 42 weiblich, 43 mannlich. Folgende Diagnosen wurden gestellt: Abduzensparese (n=34, davon 3 beidseits), Esotropie bei Myopia magna (n=12), Esotropien mit neurologischer Begleitsymptomatik (n=6), andere Genese (n=5). In 4 Fallen war die Diagnose zum Ende der Studie noch unklar. Bei 24 Patienten bestand keine der o.g. Diagnosen, es wurde die Diagnose Esotropie im Senium im Sinne eines Sagging-Eye-Syndroms (ETSAG) gestellt. Die Abduzensparesen zeigten typischerweise einen plotzlichen Doppelbildbeginn, verlangsamte Abduktionssakkaden und asymmetrische Abduktionsfahigkeit. Bei einseitigen Abduzensparesen vergro ss erte sich die Esotropie kontinuierlich vom Blick zur nicht betroffenen Seite uber Primarposition bis zum Blick zur betroffenen Seite. Patienten mit ETSAG und myopieassoziierter Esotropie gaben hingegen einen schleichenden Doppelbildbeginn an, zeigten normale Abduktionssakkaden und eine symmetrisch leicht verminderte Abduktionsfahigkeit. Der Schielwinkel nahm haufig zu beiden Seiten hin geringfugig zu. Eine Esotropie mit neurologischer Begleitsymptomatik war selten und zeigte sich bei unterschiedlichen Grunderkrankungen. Schlussfolgerung Die Art des Doppelbildbeginns, die Qualitat der Sakkaden, das Inkomitanzverhalten sowie die Abduktionsfahigkeit sind wegweisende Parameter fur die atiologische Zuordnung einer im Alter aufgetretenen Esotropie. Die Charakteristika der einzelnen Diagnosen werden beschrieben und differenzialdiagnostische Gesichtspunkte diskutiert

Mutation ofPOC1Bina severe syndromic retinal ciliopathy

We describe a consanguineous Iraqi family with Leber congenital amaurosis (LCA),Joubert syndrome (JBTS), and polycystic kidney disease. Targeted NGS for excluding mutations in known LCA and JBTS genes, homozygosity mapping and whole-exome sequencing identified a homozygous missense variant, c.317G>C (p.Arg106Pro), in POC1B,a gene essential for ciliogenesis, basal body and centrosome integrity. Insilico modeling suggested a requirement of p.Arg106for formation of the third WD40 repeat and a protein interaction interface. In human and mouse retina, POC1B localized to the basal body and centriole adjacent to the connecting cilium of photoreceptors and in synapses of the outer plexiform layer. Knockdown of Poc1b in zebrafish caused cystic kidneys and retinal degeneration with shortened and reduced photoreceptor connecting cilia, compatible with the human syndromic ciliopathy. A recent study describes homozygosity for p.Arg106Pro[subscript POC1]B in a family with non-syndromic cone-rod dystrophy. The phenotype associated with homozygous p.Arg106Pro[subscript POC1]B may thus be highly variable, analogous to homozygous p.Leu710Ser inWDR19 causing either isolated retinitis pigmentosa or Jeune syndrome. Our study indicates that POC1B is required for retinal integrity, and we propose POC1B mutations as a probable cause for JBTS with severe polycystic kidney disease