[Acute bilateral vision loss in Fanconi anemia].
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Acute Disease↗
Biomedical subjects
G C Gusek-Schneider
Publications and source records attributed to G C Gusek-Schneider.
[Two years experience with the new accommodative 1 CU intraocular lens].
After marked improvement of optical rehabilitation of cataract patients during the last decades due to small incision surgery and foldable intraocular lenses (IOL), presbyopia is now one of the great unsolved questions in ophthalmology. During recent years a new accommodative IOL, the 1CU lens, has been developed based on the concepts of K.D. Hanna and on finite element computer simulation models. The 1CU IOL is designed to transform contracting forces of the ciliary muscle into anterior movement of the IOL optic (optic-shift concept). After the first implantation of a 1CU IOL in Erlangen in June 2000, we have now successfully implanted the 1CU IOL in over 90 patients. Our experiences and the results of several clinical studies indicate good and safe implantability, good centration, no IOL-specific complications, and good distance visual acuity. In comparison to control groups with conventional IOL, patients with the 1CU enjoyed significantly better distance-corrected near visual acuity, a larger accommodative range, and increased anterior and posterior axial movement of the lens optic after medical stimulation or inhibition of the ciliary muscle. We interpret our results as confirmation of the optic-shift concept of the 1CU IOL. Overall, the concept of accommodative IOL appears attractive and may have a great potential in the future. Additional studies including randomized blind multicenter evaluation of the 1CU IOL are necessary to further evaluate long-term and accommodative results.
Accommodation, Ocular↗
[Squint amblyopia as a masking symptom. Juvenile pilocytic astrocytoma of the optic nerve (WHO grade I)].
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Amblyopia↗
[Early childhood cataract in hereditary UDP-galactose-4-epimerase deficiency--a case report].
BACKGROUND: Increased plasma galactitol levels may lead to development of bilateral pediatric cataract. PATIENT: A 3-year-old boy was found to suffer from a bilateral zonular cataract. Extracapsular lensectomy with posterior capsulotomy, transpupillar anterior vitrectomy and posterior chamber lens implantation were performed during a 4-month-interval. RESULTS: The epimerase-activity in red cells of the index patient was found to be significantly decreased (11.2 mumol/h/g Hb; normal range; 19-35). From other family members, such as the brother (16.8), the father (16.0) and the grandfather (15.6), a diminished red cell activity was observed. The mother whose epimerase activity was considerably lower than that of the above mentioned family members (13.3) showed also a zonular bilateral cataract. CONCLUSIONS: Investigation of enzymes and polyols of galactose metabolism as well as consultation of the concerned families are recommended for clarification of cataract development.
Cataract↗
[Functional results of posterior chamber lens implantation for traumatic cataracts in 22 children younger than seven years--a retrospective study].
BACKGROUND: Surgical correction of aphakia following traumatic cataract in children is discussed controversely in literature. This study shows the functional results after cataract surgery with posterior chamber intraocular lens implantation in children under 7 years of age. PATIENTS AND METHODS: This retrospective study analyzes the visual function of 22 children, who were operated after traumatic cataract between 1987 and 1997 at the department of ophthalmology, university of Erlangen-Nürnberg with PCL-implantation. Mean age at injury was 3 years 10 months +/- 1 year 8 months (range 15 to 76 months); the interval between injury and cataract surgery: 2.7 +/- 4.7 months (range 0 to 17 months). The follow-up time
Anisometropia↗
[Eyelid and facial injuries due to dog bites].
BACKGROUND: Head und neck injuries of children are mistly due to dog bite. PATIENTS AND METHODS: During the 10-year interval from 1990 to 2000 sixteen patients suffering from dog bite injuries were seen in our department. Age, gender, pattern of ocular and periocular wounds, surgical management and long-term damage were analyzed. RESULTS: Medial lower eyelid injuries with lacrimal duct involvement were most common. Ten victims were younger than four years. 87% of the dogs belonged to the family and friends of the patients. Two localized infections and no systemic infection were seen. CONCLUSION: Primate microsurgical wound repair leads to a satisfying functional, morphological, and esthetic long-term result.
Age Distribution↗
[First results of implantation of a new, potentially accommodative posterior chamber intraocular lens].
PURPOSE: Conventional posterior chamber intraocular lenses (PCIOL) generally provide excellent visual acuity but do not restore accommodation. A new, potentially accommodative PCIOL has been designed after principles elaborated by K.D. Hanna using finite element models. However, before newly developed PCIOL may be implanted routinely in larger numbers of patients, careful and meticulous evaluation in clinical studies is necessary. Thus, it was the aim of this study to investigate intra- and early 3-month postoperative findings after implantation of the newly designed PCIOL. PATIENTS AND METHODS: In a prospective pilot and safety study that was approved by the ethics committee of our university, six eyes of six patients (2 males, 4 females, age range 54 to 87 years) with senile or presenile cataract underwent phacoemulsification and implantation of the new PCIOL by one surgeon between June and November 2000. The PCIOL (1 CU, HumanOptics AG, Erlangen, Germany) is a one-piece hydrophilic acrylic foldable lens with an optic diameter of 5.5 mm. Modified haptics are intended to allow anterior movement of the lens optic as a function of contraction of the ciliary muscle. Intra- and early postoperative findings obtained after one and two days, one, two and six weeks and 3 months postoperatively were documented prospectively. Postoperative examinations included recording of distance and near visual acuity both obtained with best distance correction, determination of subjective near point and measurement of distance and near refraction by streak retinoscopy. Follow-up was at least three months in all patients. RESULTS: Surgery was uncomplicated in all patients with successful in-the-bag implantation and good centration of the PCIOL. The postoperative course was uncomplicated without inflammation, hemorrhage, synechiae or decentration. Visual acuity improved in all patients according to the status of the macula with values between 20/200 (atrophic maculopathy) and 20/20. After three to six months we observed a difference between retinoscopic near and distance refraction of 0.625 to 1.875 D and subjective near points of 40 to 100 cm. Near visual acuity with distance correction ranged from 0.1 or J 16 (atrophic maculopathy) to 0.4 or J 7. CONCLUSIONS: These early and preliminary results of our small pilot study are encouraging. Our findings may indicate at least some degree of pseudophakic accommodation. However, further studies with additional methods of measurements, with longer follow-up, more patients and controlled studies with control groups are essential to further determine safety and potential accommodative power of this new PCIOL.
Accommodation, Ocular↗
Primary congenital glaucoma: three case reports on novel mutations and combinations of mutations in the GLC3A (CYP1B1) gene.
PURPOSE: To describe three patients with congenital glaucoma homozygous and compound heterozygous for different mutations and benign sequence variants in the cytochrome P 450 1B1 (CYP1B1) gene. METHODS: All patients were examined by slit-lamp biomicroscopy, gonioscopy, measurement of the cornea and optic disc, ultrasound biometry, and automated static threshold perimetry when possible. Direct sequence analysis was performed on DNA extracted from peripheral blood from the patients and their parents. RESULTS: For patient 1, a newborn boy with buphthalmos and an opaque cornea, a novel homozygous C/T transition in codon 355 (CGA>TGA) led to a predicted nonsense codon Arg355X truncating the protein by 188 amino acids. For patient 2, a 24-year-old man, a compound heterozygous mutation 1410-1422del/1546-1555dup was found. For patient 3, a 34-year-old man, two novel heterozygous missense mutations resulting in an Ala443Gly and a Glu229Lys amino acid exchange and five benign sequence variants were found. CONCLUSION: Our results confirm the crucial role of CYP1B1 mutations for congenital glaucoma.
Adult↗
[Diplopia as first symptom of a bronchogenic carcinoma].
BACKGROUND PATIENTS: In about 30% of patients with orbital metastases, these metastases are detected before the primary tumour is known. Less than 5% of orbital metastases are located in extraocular muscles. We report on a patient with diplopia caused by diminished abduction of the left eye as first symptom of a bronchogenic carcinoma. PATIENT: A 86-year-old patient presented with a newly developed diplopia. On examination, the left eye showed a diminished abduction, ptosis and miosis. Pharmacological testing revealed peripheral Horner's syndrome. On cranial magnet resonance tomography, the lateral rectus muscle belly was enlarged. A chest X-ray showed a large tumour (6 cm in diameter) of the left upper lobe with multiple metastases to the lungs. Further examinations revealed a large cell bronchogenic carcinoma with metastases to the lungs, adrenal glands, and the lateral rectus muscle. CONCLUSIONS: Diplopia caused by metastases to extraocular muscles is rare as first sign of a bronchogenic carcinoma. The combination of peripheral Horner's syndrome with diminished abduction of the homolateral eye primarily suggests a lesion of the cavernous sinus. The bronchogenic carcinoma could not be causative for Horner's syndrome in the patient presented here, however an undetected tumor-infiltration of the postganglionic region cannot be excluded. This case demonstrates that in all patients with newly developed diplopia and Horner's syndrome, even in absence of orbital signs, apart from a ophthalmological examination detailed radiographic or magnetic resonance tomographic imaging is necessary of both skull base and orbita.
Aged↗
Stimulus deprivation amblyopia in human congenital ptosis: a study of 100 patients.
AIM: To investigate the frequency of stimulus deprivation amblyopia (SDA) in comparison with other reasons for amblyopia in human congenital ptosis. METHODS: The frequency and causes of amblyopia were evaluated in the 200 eyes of 100 patients. Congenital ptosis was present in 128 eyes (72 unilateral, 28 bilateral). The age at investigation was one year and older, with an average of 11 years and 10 months. Amblyopia was defined as best corrected visual acuity less than 1.0 or a difference between the two eyes of at least 0.2. The following causes of amblyopia were identified: amblyopiogenic refractive errors: astigmatism > or = 1 dpt, anisometropia > or = 1 dpt (79% cycloplegia) and strabismus. In cases with no other reasons for amblyopia, SDA was assumed. Statistical analysis was performed using the chi-square and the sign tests. RESULTS: The overall incidence of amblyopia in ptotic eyes was 89/128 (70%). In 3.9% of the cases (5/128; 2 eyes with unilateral and 3 eyes with bilateral ptosis) we assumed SDA. A comparison of ptotic eyes with (unilateral: n = 35, bilateral: n = 34) and without covered optical axis revealed the following: in the case of unilateral ptosis, amblyopia was found more often in ptotic eyes with covered optical axis: 30 out of 35 vs. 24 out of 37 (p = 0.06); in the case of bilateral ptosis this difference was significant: 27 out of 34 vs. 8 out of 22 (p < 0.05). In the case of SDA, the optical axis was covered in only a single eye, in a patient with bilateral ptosis. There was no difference in the incidence of anisometropia: 19 out of 53 vs. 14 out of 47 (p = 0.52). Astigmatism was found more frequently in ptotic eyes with covered optical axis in unilateral ptosis: 23 out of 35 vs. 16 out of 37 (p = 0.06) but not in bilateral ptosis: 21 out of 34 vs. 13 out of 22 (p > 0.9). Strabismus was found significantly more frequently in ptotic eyes with covered optical axis: 13 out of 35 vs. 4 out of 37 (p < 0.05) in unilateral ptosis and 7 out of 34 vs. 1 out of 22 (p = 0.13) in bilateral ptosis. CONCLUSION: In contrast to the classical animal models of stimulus deprivation amblyopia, this entity is rare in human congenital ptosis, perhaps because of the counter effect of compensating head posture. Disruption of fusion resulting in strabismus might be an additional indirect cause of amblyopia in congenital ptosis. Prophylactic amblyopia treatment in ptosis cases is important as long as no testing of visual acuity is possible in a child.
Adolescent↗
Stimulus deprivation myopia in human congenital ptosis: a preliminary report of 50 unilateral cases.
OBJECTIVE: To investigate the frequency of hyperopia and suspected stimulus deprivation myopia in human congenital ptosis. METHODS: Ametropia was evaluated in both eyes of 50 patients with congenital ptosis. The age at investigation was one year and older, average 6 years and 10 months. The amount of refraction was documented as the spherical equivalent (100% cycloplegia). Differences between the paired eyes of 1.0 dpt or more were defined as anisometropia. Statistical analysis was performed using the chi-square and sign tests. RESULTS: The frequency of myopia was lower (7/50: 14%) than that of hyperopia (43/50: 86%) in the ptotic eye (p<0.001). However, myopia occurred more often in the ptotic eye (7/50: 14%) than in the fellow eye (3/50: 6%, p>0.3). Myopic anisometropia was found only in the ptotic eye (5/50 vs. 0/50, p = 0.06), but was not more frequent than hyperopic anisometropia: (5/50 vs. 9/50, p>0.4). A covered center of the pupil in 27 out of 50 eyes was not associated significantly with myopia (2 of 27 versus 5 of 23, p>0.2). Altogether, we found a significantly higher rate of myopia <-1 dpt and hyperopia > 2 dpt: 10% vs. 1.4% and 40% vs. 10.2% (p<0.001) in comparison with normal school children. CONCLUSION: In summary, the following three findings were noted, of which the first two were expected and the third was not. 1. Compared with the normal population, there was an overall higher frequency of myopia in unilateral congenital ptosis. 2. There was a higher frequency of myopia in the ptotic than in the fellow eye. 3. Compared with the normal population, there was also a higher frequency of hyperopia. The clinical presentation of human congenital ptosis may be influenced by compensating head posture, strabismus, accommodation and biochemical effects, and the condition may therefore differ from the classical well-defined animal model of stimulus deprivation myopia.
Adolescent↗
[Familial cataract in plasma galactitol increase without known enzyme defect].
BACKGROUND: Several enzyme defects of the galactose pathway may lead to cataract formation. We report on a family with familiar cataract. PATIENTS: A 2-year-old Turkish girl (daughter of first cousins) presented with dense cortical and subcapsular opacifications and mature cataract respectively. Bilateral phacectomy, planned posterior capsulotomy, transpapillary vitrectomy and implantation of a posterior chamber lens were performed. The child was otherwise healthy and the pregnancy had been unremarkable. The 25-year-old mother showed circumscribed drop-like opacities of the lens cortex bilaterally, the 5-year-old sister a diffuse opacification of the lens cortex in both eyes, the 27-year-old father and the 13-year-old uncle clear lenses. RESULTS: The girl's level of galactitol was elevated to 2.8 nmol/ml in the plasma (normal values 0.25-1.13 nmol/ml) and to 3.1 nmol/mg protein in the lens (normal values 0.5-1.7 nmol/mg protein). The levels of galactose-1-phosphate in RBC and sorbitol in plasma were in the normal range. The enzyme activities of galactokinase, galactose-1-phosphate uridyl transferase, UDP-galactose epimerase and sorbitol dehydrogenase in RBC, as well as the sorbitol dehydrogenase activity in the lens were in the normal range. The sister and the uncle both had slightly elevated plasma galactitol levels. CONCLUSIONS: Cataract-formation in this family is most likely due to a defect in the galactitol pathway, e.g. cataract in galactosemia without known enzyme defect (Shin-Jakobs disease). In patients with unexplained congenital or infantile cataracts, disorders of the polyol pathway should be thoroughly checked for to ensure a therapeutic diet if necessary.
Adult↗
[Keratoconus screening with wave-front parameters based on topography height data].
BACKGROUND: The image-forming properties of a keratoconus eye are degraded even in the early stage of this disease. The purpose of this study was to develop keratoconus detection scheme based on topography height data independent of the currently used system which avoids the disadvantages of detection algorithms currently used in clinical practice. PATIENTS AND METHODS: Eighty-eight patients with keratoconus (46 with mild and 42 with severe clinical signs) and a control group of 40 normal subjects were included in this study. A decomposition of corneal topography height data into orthogonal Zernike polynomials was performed using the commercially available corneal topographer TMS-1. Expansion coefficients of the different groups were compared to evaluate significant differences. Elevated terms were used to detect the disease. The statistical significance of this detection scheme was compared to those given by the keratoconus detection software of the TMS-1. From the elevated Zernike terms a neural network was constructed and optimized for dividing keratoconus patients and normal controls. RESULTS: Some low-order Zernike coefficients with a radial order n < 8 were found to be elevated in patients with keratoconus and were used to define a new detection algorithm. This index performed at least as well (sensitivity in mild/severe keratoconus 93.4%/100% with a specificity of 100%) as keratoconus detection schemes based on the Klyce-Maeda and the Rabinowitz-Klyce indices as well as the I-S value and the Surface Asymmetry Index SAI in our study population. CONCLUSIONS: Zernike decomposition of corneal topography height data allows a definition of an exact and robust algorithm for detection of keratoconus. It avoids the drawbacks of refractive power based definitions and is independent on the individual topographer design.
Adolescent↗
[Topography-based calculation of keratoconus dimensions].
BACKGROUND: Keratoconus is a corneal dystrophy which usually develops in the second or third decade of life and shows various speed of progression. This disease may degrade the image-forming properties of the eye even in its early stage. The purpose of this study was to support the conventional clinical qualitative diagnostic methods of keratoconus handling with a topography-based algorithm to quantify the "ballooning" of the anterior corneal surface. PATIENTS AND METHODS: Eighty-eight patients with keratoconus (46 with mild and 42 with severe clinical signs) and a control group of 40 normal subjects were included in this study. Topographic height data were calculated from refraction data of a commercially available topographer (TMS-1) using a local approximation algorithm. A decomposition of corneal topography height data into orthogonal Zernike polynomials was performed to define a asphero-cylindrical model surface. From the difference of the raw height data and the model surface, the base, height and volume as well as the localization of the protrusion was quantified. RESULTS: The height of the corneal protrusion (23 to 71 microns), the volume of the cone (0.066 to 0.141 mm3) and the horizontal dimension (0.67 to 1.32 mm) increased highly significantly. In contrast, comparing the early to the severe stage of the disease the vertical dimension of the cone (0.64 to 0.93) changed much less. In the severe stage, the center of the protrusion was much more decentred (1.33 mm) than in the early stage (0.44) due to a shift in the inferior direction. CONCLUSIONS: The quantification of cone dimensions using corneal topography height data has the potential to assist qualitative clinical graduation in keratoconus independent of the system currently used. The knowledge about the exact amount of corneal protrusion and position of the cone may improve the assessment of the progression of the disease, thus being helpful for indication of a penetrating keratoplasty.
Adult↗
[Anterior vitrectomy in recurrent secondary cataract in early childhood].
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Cataract↗
[Protective ptosis by botulinum A toxin injection in corneal affectations].
BACKGROUND: Botulinum toxin A has been introduced as a local injection therapy of different conditions with focal muscular hypercontractions. In the ophthalmologic field the toxin has proven its efficacy in the therapy of blepharospasm and hemifacial spasm. There are only few reports on the use of a botulinum toxin A to induce a protective ptosis in patients with persistent corneal ulcers. PATIENTS AND METHODS: 21 patients who failed to respond to conservative therapy of corneal erosions or ulcers of different origin received a botulinum toxin A injection into the levator palpebrae superioris muscle. RESULTS: The ptosis began after a mean of 1.5 days (1-3 days) and was complete after a mean of 5.1 days (3-12 days) after injection. Complete recovery of the levator function could be observed after a mean of 12.4 weeks (4-24 weeks). In 13 patients (61.8%) the botulinum toxin A induced protective ptosis lead to a complete healing of indolent ulcers or erosions, in 4 patients (19%) an additional tarsorrhaphy was necessary. In 3 patients no healing could be observed during follow up, in one patient (with neuroparalytic ulcer) the injection was given prophylactically. The period of healing on average was 3.8 weeks. There was no relationship between the healing rate and the duration of the corneal disease prior to the botulinum toxin injection. The mean healing rate of younger patients was higher (75%) than that of older patients (53.8%) and higher in erosions (70%) than in ulcers (30%). No side effects were observed besides in one patient the undesirable duration of the ptosis of a half year. CONCLUSION: The induction of a protective ptosis with botulinum toxin A injection is an efficacious treatment alternative in persistent corneal erosions and ulcers before performing a tarsorrhaphy. This method is preferrable especially in patients with lagophthalmos due to facial nerve paresis with potential recovery.
Adolescent↗
[Radiotherapy only in severe, progressive endocrine orbitopathy: long-term results and comparison of various classification systems].
BACKGROUND: Therapeutic results after radiotherapy in thyroid associated orbitopathy (TAO) often are not comparable, because either different therapeutic methods at the same time or different scores were used in the evaluation. This study focuses on radiotherapy alone by means of different evaluation scores. PATIENTS AND METHODS: 60 patients (49 women, 11 men) received standard external beam radiotherapy (20 Gy: 10 fractions of each 2 Gy) as ultima ratio after failing different other therapies of thyroid associated orbitopathy. The mean interval from beginning of the symptoms to the radiotherapy was 17 +/- 36 months (between 6 and 240 months). The follow up was documented--classified by means of 4 different scores--before radiotherapy, 6-12 weeks, 1 year after radiotherapy and at last follow up. The changes of symptom categories or grades of the different scores were analysed. RESULTS: Significant changes of the ophthalmic scores were observed when comparing the endpoints at 6-12 weeks, and at 1-year follow up after radiotherapy. The "classical" Werner score at 12 months follow up did not correlate well with the other TAO scores: American thyroid association (ATA) scoring system, Stanford scoring system, International ophthalmopathy index, while all other TAO scores revealed a high correlation among each other. According to the Orbitopathy Index (OI) of Grussendorf an improvement from 14.2 points to 6.0 points was achieved. Soft tissue involvement and corneal involvement demonstrated the highest response rate (83/87%), extraocular muscle involvement and proptosis a good response rate (69/70%). No long-term complications were observed. CONCLUSION: According to this study there are indications that external beam radiotherapy is a suitable therapy even after pretreatment and a longer course of TAO. The OI, the ATA and the Stanford scoring systems lead to similar results in the assessment of thyroid orbitopathy.
Adolescent↗
[Outcomes after penetrating keratoplasty in congenital hereditary corneal endothelial dystrophy (CHED). Report on 13 eyes].
BACKGROUND: Congenital hereditary endothelial dystrophy (CHED) is a rare bilateral corneal disease. The stromal opacity is supposed to result from terminal misdifferentiation of the endothelial cells. In this study we present the morphological and functional results after penetrating keratoplasty in children with CHED who were operated in our department between 1981 and 1997. PATIENTS AND METHODS: In a retrospective clinical cross-sectional study we looked up case histories of 13 eyes from 8 children (7 female, 1 male) with a mean age of 6.0 +/- 3.1 years (ranged from 3 to 14 years). In all children penetrating keratoplasty was performed by one surgeon (GOHN), in 3 eyes using nonmechanical excimer laser trephination. The graft-diameter was in 7 eyes 7.0/7.1 mm, in 2 eyes 7.0/7.2 mm, in 2 eyes 6.5/6.6 mm (resp. 6.8 mm), in 2 eyes 6.0/6.1 mm (resp. 6.2 mm). Fixation of grafts was achieved in 2 eyes by single running suture, in 8 eyes by double running suture and in 3 eyes by multiple interrupted sutures. RESULTS: During a mean follow-up of 4.0 +/- 2.4 years visual acuity increased in all patients (from light perception to 6/20 preoperatively to 2/200 to 14/20 postoperatively). In one patient corneal endothelial-epithelial-decompensation occured (both eyes unterwent previous antiglaucomatous surgery elsewhere), and in 1 patient loosening of one suture happened after 10 month. No immunological graft reaction occurred during follow-up. After excimer laser trephination (3 eyes from 2 patients) visual acuity and corneal astigmatism after surgery was favorable in comparison to all other patients. CONCLUSION: In children with CHED penetrating keratoplasty results not only in a clear cornea but also in a satisfactory functional outcome. Postoperatively periodical morphological controls and assessment of refraction as well as means to prevent amblyopia are indispensable before age 7.
Adolescent↗