[Clinical and genetic results with reference to corneal alterations in Lowe-syndrome]. / Klinische und genetische Befunde unter besonderer Betrachtung kornealer Veränderungen bei Lowe-Syndrom.

BACKGROUND: The Lowe oculo-cerebro-renal syndrome (OCRL1) is a rare X-linked disease which causes impairment of visual acuity. The situation may be further complicated by corneal alterations. PATIENTS AND METHODS: In total seven patients from different families were clinically examined by slit-lamp examination, funduscopy, measurement of the intraocular pressure and ultrasound sonography. Molecular genetic analysis was performed in six patients by sequencing large PCR amplicons with a DNA sequencer and the ABI PRISM Sequence navigator software. RESULT: All affected boys were aphakic. Due to high intraocular pressure, iridectomy, goniotomy, cyclo-cryo treatment or trabeculectomy were performed. All patients showed opacity or pannus-like alterations of the cornea. Molecular genetic analysis revealed four novel and two known mutations. CONCLUSION: Reduced visual acuity was partly explained by morphological changes due to the underlying genetic defect and the development of cataract and glaucoma. Opacity of the cornea as well as alterations of the cornea seem to be a major problem in the course of the disease.

[Postoperative deposits on a second-generation silicone lens]. / Postoperative Eintrübungen einer Silikonlinse zweiter Generation.

BACKGROUND: In the literature there have often been reports about deposits (hydroxyapatite) in hydrophilic or hydrophobic intraocular lenses (IOLs). We report, for the first time, about deposits on a silicone IOL of the second generation. MATERIALS AND METHODS: A silicone IOL (Allergan, type SI-40) which was extracted due to gradual visual loss, has been examined. RESULTS: The examination with the scanning electron microscope (SEM) showed crystalline precipitations in the anterior surface of the IOL while the X-ray analysis showed the existence of calcium and carbon, whereas no phosphorus was found. CONCLUSIONS: It could be hypothesised that metabolic disorders in aqueous humor (i. e., in patients with diabetes mellitus), the quality of the production of the lens, and not the IOL material, are the main cause for deposits in the IOL surface.

Scanning laser ophthalmoscope-evoked multifocal ERG (SLO-mfERG) in patients with macular holes and normal individuals.

AIMS: A scanning laser ophthalmoscope (SLO) has been used for multifocal electroretinography (mf ERG) measurements under simultaneous fundus monitoring. The aim of this study was to prove if the SLO-mfERG measurement reflects reliably the clinically registered underlying disease, and to demonstrate the importance of its main advantage, fixation monitoring. METHODS: In all, 10 patients with macular hole stage II/III were included in the study, and 19 normal individuals served as the control group. The mf ERG device was combined with an SLO, which was used both as a stimulus and trigger unit as well as a fundus-monitoring system. Monitoring of the fundus was guaranteed by an infrared laser (780 nm). The stimulus matrix consisted of 61 hexagonal elements, covering 24 degrees of the posterior pole. We examined both, patients with macular holes and healthy individuals. RESULTS: Compared to normal controls, patients with a macular hole (Gass stage III) showed a significant decrease in response density in the centre of the stimulus array, which correlated well with the morphological alteration observed by clinical examination. However, variation of response density of the central hexagonal area has been proved to be high. CONCLUSIONS: SLO-mfERG is a feasible and reliable new technique to investigate macular function under simultaneous fundus control. The main advantage is that control of fixation can be used in order to obtain more reliable results that correlate well with visible fundus abnormalities such as in patients with macular holes. However, further investigations have to be performed in order to overcome sufficiently the problem of fixation instability.

[Scanning laser ophthalmoscope multifocal electroretinography and microperimetry in patients with Stargardt's disease]. / SLO-mfERG-Kampimetrie und SLO-Mikroperimetrie bei Morbus Stargardt.

PURPOSE: We used a scanning laser ophthalmoscope (SLO) evoked multifocal electroretinography (mf-ERG) to evaluate retinal function in patients with Stargardt's disease. SLO microperimetry could demonstrate the size of central retinal scotoma very well in these patients. The aim of the examination was to correlate the results of SLO mf-ERG and SLO microperimetry. METHODS: In four patients with Stargardt's disease SLO mf-ERG and SLO microperimetry were performed. The area of measurement in the SLO mfERG had a 24 degrees diameter (12 degrees visual angle) at the posterior pole of the eye. Stimulation was done using a helium-neon laser (632.8 nm). Simultaneous control of fixation was made using a infrared laser (730 nm). SLO microperimetry was performed with stimuli having the size of Goldmann III stimuli and the intensities 0 dB, 12 dB and 20 dB. In this study the reduction of SLO mfERG amplitudes was correlated to graded stimulus intensities in the SLO microperimetry. RESULTS: The area of reduced retinal function in the SLO mf-ERG measurement could be well correlated to the size of the scotoma in the SLO microperimetry, using the stimulus Goldmann III with the intensity 20 dB. CONCLUSION: SLO mfERG and SLO microperimetry are sensitive methods for quantifying functional deficits and are therefore useful for performing a detailed examination of the retina.

[Anthrax--an old disease becomes topical: cutaneous anthrax and the eye]. / Anthrax--altbekannt und hochaktuell Hautmilzbrand am Auge.

BACKGROUND: Anthrax disease and its eye manifestations were rare in the last 100 years, but the threat of terrorist actions has revived its topicality. MATERIALS AND METHODS: After an introductory historical review, the pathogenesis of this disease with regard to the virulence of Bacillus anthracis is reported. On the basis of photos displaying the course of the disease, the symptoms particularly of the cutaneous form of this disease as well as the diagnostic possibilities are described. RESULTS AND CONCLUSIONS: The current status of therapy and research for more effective treatment is discussed, with particular emphasis on the development of new substances with antitoxin properties and better vaccines. Bacillus anthracis is once again an actual threat, and therefore it is necessary for doctors to familiarize themselves with the current knowledge of this infection.

[Adjustment of eye muscle surgery dosage under drop anaesthesia in patients with Grave's orbitopathy]. / Dosierung muskelchirurgischer Eingriffe in Tropfanästhesie bei Patienten mit endokriner Orbitopathie.

BACKGROUND: Motility restrictions of the eye muscles represent a common and serious impairment for patients with Grave's orbitopathy. Various surgical approaches have been developed for the rehabilitation of these patients. In this study 64 patients in which only one of the rectus inferior muscles was recessed are presented. METHOD: The recession was performed using drop anaesthesia. The active cooperation of the patients was necessary for adjustment of the dosage so that undercorrections or more important overcorrections could be prevented. Indications for this recession were a constant diplopia, an abnormal head posture, a pseudoretraction of the upper eyelid or corneal scarring complications. RESULTS: In all patients the squint angle was significantly reduced. A statistical mathematical correlation between the intraoperatively chosen recession length and the reduction of squint angle was found. On the other hand, the variance of the effect of the operation was so large that no dosage recommendations could be made. This operation technique seems to be able to avoid overcorrections (9.3%) for the majority of patients and only a small group of them presented diplopia postoperatively (10.9%). CONCLUSIONS: These results show a good functional rehabilitation of our patients. Performing the operation under drop anaesthesia, while taking into account the motility situation, seems to be a good method in order to manage the dosage problems presenting in this clinical entity.

A comparison of endophthalmitis after phacoemulsification or extracapsular cataract extraction in a socio-economically deprived environment: a retrospective analysis of 2446 patients.

PURPOSE: To assess which cataract operation technique involves least risk of postoperative endophthalmitis, when performed in a population living in poor hygiene conditions. METHODS: This retrospective clinical study evaluated 2446 cases at the Eye Clinic of the Komotini General Hospital, Greece, between January 1998 and January 2001. RESULTS: Endophthalmitis arose in 12/1055 patients (1.13%) after extracapsular cataract extraction (ECCE) and in 8/1391 after phacoemulsification (0.57%). The mean time to onset of endophthalmitis was 23 and 73 days respectively after phacoemulsification and ECCE. This difference was statistically significant. CONCLUSIONS: Endophthalmitis develops considerably later after ECCE than phacoemulsification. Thus it would appear that hygiene conditions have a stronger effect in patients operated with the ECCE technique. In order to reduce the risk of endophthalmitis after cataract extraction in patients living in substandard conditions, phacoemulsification is proposed as preferable to ECCE.

[Ocular involvement in nail-patella syndrome (#161200)]. / Okuläre Beteiligung beim "Nagel-Patella-Syndrom" (#161200).

PURPOSE: The "nail-patella syndrome" (NPS) is an autosomal dominant hereditary systemic disease. The underlying defect of the LMX1B gene is localised on chromosome 9q34 and causes various typical clinical signs such as onychodysplasia, patella hypoplasia, renal involvement and open angle glaucoma. PATIENTS: A 42-year-old mother and her 4-year-old son were examined in our hospital in order to exclude ocular involvement in a genetically confirmed "nail-patella syndrome". A clinical examination including corneal topography, gonioscopy as well as measurement of intraocular pressure and bulbus length was performed. RESULTS: The examination of both patients showed NPS-specific symptoms, however the boy revealed no indications of glaucoma. He suffered from marked amblyopia caused by excessive astigmatism of the left eye and a bilateral moderate hyperopia. CONCLUSION: Because of the co-segregation between the syndrome and open angle glaucoma, NPS patients should undergo regular ophthalmological controls including measurement of intraocular pressure. Experiments on mice have shown that mutations of the LMX1B gene result in alterations of several structures of the anterior segments. Thus, the described refraction abnormality could be the consequence of structural changes at the corneal level due to NPS.

Scanning laser ophthalmoscope-evoked multifocal-ERG (SLO-m-ERG) by using short m-sequences.

PURPOSE: To demonstrate the possibility of topographic mapping of retinal function under simultaneous control of fixation in humans, by scanning laser ophthalmoscope evoked multifocal electroretinography (SLO-m-ERG). METHODS: A confocal scanning laser ophthalmoscope was used as a stimulator and trigger unit to take m-ERGs. Short m-sequences based on a modified algorithm were used, with the advantage that each measurement cycle can be evaluated separately. We examined 78 normal subjects; in 62 a distortion factor of 1:1 was applied, and a factor of 1:4 in 16. RESULTS: The recorded amplitudes decreased with eccentricity, approximately following the decrease of retinal cone density. Amplitudes were higher in the central hexagonal element in the group with 1:4 distortion than in the group with the 1:1 distortion setting. CONCLUSIONS: SLO-m-ERG is a reliable technique for topographic mapping of retinal function under simultaneous control of fixation.

[LEOPARD syndrome with iris-retina-choroid coloboma. Discordant findings in monozygotic twins (MIM # 151 100)]. / LEOPARD-Syndrom mit Iris-Netzhaut-Aderhaut-Kolobom. Diskordanter Befund bei monozygoten Zwillingen (MIM # 151 100).

INTRODUCTION: The LEOPARD syndrome is an autosomal dominant inherited disease with severe lentiginosis associated with various abnormalities such as electrocardiographic abnormalities, ocular hypertelorism, pulmonary stenosis, abnormalities of the genitalia, retardation of growth and deafness. Ocular manifestations such as coloboma of the iris, the retina and the choroid have not been reported so far. PATIENTS: We report the cases of two 10-year-old identical twins and their mother, showing typical manifestations consistent with the LEOPARD syndrome. Additionally, colobomas of the iris, the retina and the choroid were detected. RESULTS: In addition to the findings typical for the LEOPARD syndrome, we observed unusual ocular abnormalities in all three patients. It represents a discordant phenotype in monozygotic twins. CONCLUSION: LEOPARD syndrome is a disease with multiple alterations and abnormalities. Although ocular malformations seem to be rare, an ophthalmological examination is recommended in order to initiate early visual rehabilitation.

[Topographic mapping of retinal function with a scanning laser ophthalmoscope and multifocal electroretinography using short M-sequences]. / Topograficheskoe kartirovanie funktsii setchatki pri ispol'zovanii skaniruiushchego lazernogo oftal'moskopa i M-posledovatel'nostei dlia mul'tifokal'noi élektroretinografii.

A new method of multifocal electroretinography making use of scanning laser ophthalmoscope with a wavelength of 630 nm (SLO-m-ERG), evoking short spatial visual stimuli on the retina, is proposed. Algorithm of presenting the visual stimuli and analysis of distribution of local electroretinograms on the surface of the retina is based on short m-sequences. Mathematical cross correlation analysis shows a three-dimensional distribution of bioelectrical activity of the retina in the central visual field. In normal subjects the cone bioelectrical activity is the maximum in the macular area (corresponding to the density of cone distribution) and absent in the blind spot. The method detects the slightest pathological changes in the retina under control of the site of stimulation and ophthalmoscopic picture of the fundus oculi. The site of the pathological process correlates with the topography of changes in bioelectrical activity of the examined retinal area in diseases of the macular area and pigmented retinitis detectable by ophthalmoscopy.