[Isolated Unilateral Strabismus Sursoadductorius (Congenital Trochlear Palsy) with and without Hypotrophia of the Superior Oblique Muscle-Orthoptic Differences in Adulthood]. / Unilateraler dekompensierender Strabismus sursoadductorius mit und ohne Hypotrophie des M. obliquus superior ­ orthoptische Unterscheidungsmerkmale im Erwachsenenalter.

PURPOSE: The clinical feature of unilateral decompensating strabismus sursoadductorius (dSSA; often called congenital superior oblique palsy, CSOP) is not an etiologically uniform entity. Hypotrophy of the superior oblique muscle (HMOS) is a frequent and immediate cause of dSSA/CSOP. In this study, clinical characteristics of dSSA/CSOP with and without HMOS are compared. PATIENTS AND METHODS: Twenty-five consecutive patients (age 14 - 69 years; median 43 years) were included in this study, 14 with 3T MRI-proven HMOS (group 1) and 11 without HMOS (group 2). HMOS was defined as a reduction of the medio-lateral (ML) as well as based on ML and cranio-caudal (CC) diameter calculated area = (ML · CC/4) · π of the affected superior oblique muscle (SOM) < 80% in comparison to the contralateral SOM (measured on the single coronal image on which the muscle has its greatest extent). The two groups were compared in terms of head tilt, cyclo- and vertical deviation and the Bielschowsky head tilt test. Patients were classified according the Knapp's classification. RESULTS: Both the incidence of head tilt with 14/14 vs. 5/11 (χ2 = 0.003) and its degree: 11.1 ± 4.5° vs. 3.2 ± 4.1° (p < 0.001) was higher in group 1 than in group 2, as well as the Bielschowsky head tilt test: 9.3 ± 4.3° vs. 3.8 ± 4.9° (p = 0.008). The average amount of hypertropia was larger in group 1 than in group 2 during adduction: 16.7 ± 5.3° vs. 9.3 ± 3.4° (p < 0.001) as well as during adduction and downgaze of the affected eye: 14.6 ± 7.1 vs. 7.2 ± 3.7° (p = 0.03). In the sagittal plane, the increase of vertical deviation was larger in group 1 than in group 2: 2.8 ± 7.8 vs. - 2.4 ± 4.2 (p = 0.04); the excyclodeviation was larger in group 1 in all three planes (sagittal plane, adduction and abduction) in comparison to group 2: 1.3 ± 4.1 vs. - 2.9 ± 2.8 (p = 0.006), 2.4 ± 5.2 vs. - 2.2 ± 2.9 (p = 0.01), 0.5 ± 3.8 vs. - 2.7 ± 3.9 (p = 0.05). Knapp's class II was found in 6 of 15 patients in group 1 and only in this patient group (χ2 = 0.03). CONCLUSIONS: In both groups, the vertical deviation showed a great dispersion. In patients without HMOS (group 2), vertical deviation in adduction did not exceed 15°. Patients with HMOS (group 1) do not show the typical features of a later acquired trochlear palsy due to an early developed compensating innervation. A vertical deviation in adduction of more than 15°, increasing excyclodeviation towards downgaze in all three planes (sagittal plane, adduction and abduction) and Knapp's class II are relatively reliable predictors of a hypoplasia of the SOM. An internationally uniform term for this group of patients, such as superior oblique weakness or superior oblique hypotrophy, would be desirable.

Independent NF1 and PTPN11 mutations in a family with neurofibromatosis-Noonan syndrome.

Neurofibromatosis-Noonan syndrome (NFNS), an entity which combines both features of Noonan syndrome (NS) and neurofibromatosis type 1 (NF1), was etiologically unresolved until recent reports demonstrated NF1 mutations in the majority of patients with NFNS. The phenotypic overlap was explained by the involvement of the Ras pathway in both disorders, and, accordingly, clustering of the NF1 mutations in the GTPase-activating protein (GAP) domain of neurofibromin was observed in individuals with NFNS. We report on an 18-month-old girl with typical findings suggestive of NS in combination with multiple café-au-lait spots and bilateral optic gliomas suggestive of NF1. The patient was found to carry a de novo PTPN11 mutation p.T2I as well as the maternally inherited NF1 mutation c.4661+1G>C. Her otherwise healthy mother and brother, who also had the NF1 mutation, showed few café-au-lait spots as the only sign of neurofibromatosis. Since our patient's unique NF1 mutation results in skipping of exon 27a and thus involves the same region, Gap-related domain, that had been shown to be associated with NFNS, her phenotype could have been misleadingly attributed to the NF1 mutation only. Contrarily, absence of both cutaneous neurofibromas and NS features in her relatives with the same NF1 mutation, suggests that the index patient's typical NFNS phenotype is caused by an additive effect of mutations in both NF1 and PTPN11. In contrast to previous findings, we speculate that absence of cutaneous neurofibromas is not solely associated with the recurrent 3-bp in-frame deletion in exon 17.

Results and complications of hydrophobic acrylic vs PMMA posterior chamber lenses in children under 17 years of age.

PURPOSE: To compare results and complications of implantation of hydrophobic acrylic foldable intraocular lenses in children with those of polymethylmethacrylate (PMMA) intraocular lenses. METHODS: In a retrospective study, we analyzed results of cataract surgery with posterior chamber lens implantation in 30 eyes of 30 patients aged 1-16 years. In 10 eyes, acrylic (Alcon AcrySof) intraocular lenses, and in 20 eyes, single-piece PMMA posterior chamber lenses were implanted. Indications for cataract surgery (blunt or penetrating trauma, zonular cataract, cataracta polaris posterior, posterior lenticonus) and mean age at implantation were comparable in the two groups. Mean patient age at surgery was 8.6+/-4.6 years (range 3-16 years) for the acrylic vs 6.3+/-4.3 years (range 1-16 years) for the PMMA group. Mean follow-up was 1.0+/-0.7 years (range 0.1-2.2 years) in the acrylic group and 1.8+/-1.5 years (range 0.1-5.7 years) in the PMMA group. Primary anterior vitrectomy was performed in 7 eyes in the PMMA group and in 3 eyes in the acrylic group. In addition, one additional posterior capsulorhexis without anterior vitrectomy was performed in each group. Primary outcome measure was the occurrence of postoperative "complications" (fibrin, synechiae, posterior capsular opacification). For statistical evaluation, the Fisher exact test was used. RESULTS: When evaluating all complications together (at least one complication vs no complication), there were significantly less complications in the acrylic group (2 of 10 vs 15 of 20; p=0.007. For early complications (postoperative fibrin, synechiae) the difference was also significant (1 of 10 in the acrylic vs 11 of 20 in the PMMA group; p=0.02). The rate of posterior capsular opacification necessitating YAG capsulotomy was lower in the acrylic group (1 of 10 eyes) than in the PMMA group (7 of 20 eyes), but the difference did not reach statistical significance ( p=0.67). The postoperative time point of YAG capsulotomy was 21 months in the acrylic group and 19+/-10 months (range 6-33 months) in the PMMA group. IOL dislocation was not observed in any of the patients. Postoperative visual acuity was comparable in the two groups: 0.57+/-0.35 (0.03-1.0) in the acrylic vs 0.39+/-0.34 (0.001-0.9) in the PMMA group ( p=0.83). CONCLUSIONS: Implantation of hydrophobic acrylic intraocular lenses in the capsular bag in children may be associated with less postoperative complications compared with implantation of PMMA lenses. This appears also to be true in children under age 6 years. The visual results seem comparable and correspond mainly to the underlying ocular pathology.

[Amblyopia of the fellow eye in assumed unilateral congenital fibrosis syndrome]. / Amblyopie des Partnerauges bei vermuteter unilateraler kongenitaler Fibrose.

BACKGROUND: Amblyopia of the ptotic eye in spite of head posturing and of the fellow eye in ptosis with motility disorders are well known. We emphasize the importance of exact ophthalmological and orthoptic examinations to avoid amblyopia in both ptosis and fellow eye, even in cases of mild ptosis, especially if they are combined with motility disorders. PATIENT: A 5 year-old girl presented to our outpatient clinic because of ptosis of the left eye and hypertropia of the right eye. Visual acuity of the right eye was 0.32 and of the left ptotic eye 1.0. Cycloplegic retinoscopy showed + 2.0 sphere in both eyes. Ocular motility showed a mild reduction of elevation of the left eye in ad- and abduction. This led to the diagnosis of congenital fibrosis syndrome of the inferior rectus muscle of the left eye. Due to the preferred fixation with the left ptotic eye and the consecutive deviation of the fellow eye amblyopia of the right eye had developed. Occlusion therapy of the left eye resulted in an improvement of visual acuity of the right eye to 0.9 and centralisation of fixation within one month. CONCLUSION: Even children with mild ptosis, especially in combination with motility disorders, require a complete ophthalmological and orthoptic examination to avoid amblyopia also of the fellow eye.

[Congenital ptosis: amblyogenic refractive errors, amblyopia, manifest strabismus and stereopsis related to the types of ptosis. Data on 77 patients and review of the literature]. / Kongenitale Ptosis: Refraktionsfehler, Amblyopie und Störungen des Binokularsehens der einzelnen Ptosisformen--Befunde von 77 Patienten und Literaturübersicht.

BACKGROUND: Former reports on amblyogenic refractive errors, amblyopia and binocular vision in congenital ptosis usually comprise all forms of ptosis without any differentiation. This study is an analysis of different kinds of ptosis. PATIENTS AND METHODS: 154 eyes (98 ptotic eyes) of 77 patients with congenital ptosis aged > or = 1 year (56 unilateral ptoses: 45 simple, 1 with rectus superior paresis, 7 with Marcus Gunn's syndrome, 2 congenital oculomotor palsies, 1 unilateral fibrosis syndrome; 21 bilateral ptoses: 10 simple, 2 with bilateral double elevator paresis, 7 blepharophimosis syndromes and 2 bilateral fibrosis syndromes) were investigated concerning visual acuity, refractive error (94 % in cycloplegy), strabismus and stereo acuity. As amblyogenic refractive errors were defined: astigmatism > or = ldpt, anisometropia > or = 1 dpt (spherical equivalent) and hyperopia > or = 3 dpt; amblyopia was defined as visual acuity less than 1.0 or a difference between both eyes of at least 0.2. RESULTS: Altogether were found: Hyperopia > or = 3 dpt in 28.6 % (n = 28); astigmatism > or = 1 dpt in 63.3 % (n = 62), anisometropia in 27.3 % (n = 21), amblyopia in 65.3 % (n = 64), strabismus in 29.9 % (n = 23) and stereopsis in 76.6 % (n = 59). In unilateral simple ptosis, astigmatism of the fellow eye was found in 26.8 % (n = 14). In unilateral ptosis, esotropia was 21.4 % (n = 12), in bilateral ptosis, exotropia 19 % (n = 4), as well as astigmatism > or = 3 dpt 26.2 % (n = 11). As was to be expected, ptosis groups with motility disorders were associated with higher rates of strabismus and amblyopia. The blepharophimosis syndrome could be differentiated by the typical lid anomalies. CONCLUSION: The subgroups of congenital ptosis differ in frequency of amblyogenic factors. In unilateral ptosis these are also frequent in the fellow eye.