[Clinical aspects of retinopathy of prematurity. Results following diode laser coagulation]. / Klinische Aspekte bei Frühgeborenen-Retinopathie (ROP). Ergebnisse nach Dioden-Laserkoagulation.

Retinopathy of prematurity (ROP) represents a disease of the immature retina of preterm infants due to irregular vascularisation. The present article gives information about different parameters of the newborns (gestational age, birth weight, need of oxygen, stage of ROP) and shows the results concerning anatomical and functional aspects following diode laser treatment in 61 prematurely born babies, diagnosed and treated in a period of 5S years in the Hospital of the Ludwig Maximilians University. The mean +/- SD gestational age was 24.9 (+/- 1.59) weeks, the mean +/- SD birth weight was 683 (+/- 174) grams. Diode laser treatment was performed at a mean +/- SD age of 36.14 (+/- 2.04) weeks. Stage 3 retinopathy with "plus disease" was diagnosed in 95.5 % of the infants. In comparison to term born babies or preterm infants without ROP, the diode laser-treated newborns showed a higher incidence of myopia (59 %). An unfavourable outcome in term of the anatomic situation was seen in 9.8 % of these babies.

[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.

[The combination of eye muscle surgery with other interventions on or in the eye]. / Die Kombination von Augenmuskeloperationen mit anderen Eingriffen am oder im Auge.

Strabismus and motility disorders of the eye can be linked in many different ways to intraocular diseases and disorders of the lid and orbit. Different functional aspects have to be considered before performing combined eye muscle and intraocular or adnexal surgery. This allows to avoid unnecessary operations, to choose the right dosage of the operation, to limit the risk of diplopia, and finally to achieve a satisfying result for the patient.

A concept for the surgical treatment of trochlear palsy.

The outstanding clinical symptom of acquired uni- and bilateral trochlear palsy is excyclotropia which increases in down-gaze. Any surgical treatment must aim at reducing this deviation. To achieve this, we have routinely used a modification of the Harada-Ito operation over the last 20 years. The anterior part of the tendon is pulled anteriorly and laterally by a loop of unresorbable suture. This not only increases incyclotorsion but also depression in adduction and reduces the V-pattern. In cases with more than 5 degrees vertical deviation, we performed an additional tuck of the posterior part of the tendon. Our results are compared with those of either superior oblique tuck or combined operations on the oblique muscles published by other authors. They have also used the Harms' tangent screen for quantification of the effect of the operations. In down-gaze, similar results have been obtained but less postoperative Brown's syndrome was found with our modified Harada-Ito procedure. Thus, our modification of the Harada-Ito procedure is an effective and safe approach to the surgical treatment of trochlear palsy with less postoperative limitation of elevation and less torsional overcorrection in up-gaze.

[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.

[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.

[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.

Scanning laser ophthalmoscope fundus cyclometry in near-natural viewing conditions.

BACKGROUND: For a better understanding of motor and sensory adaptations in cyclodeviations, subjective and objective ocular torsion have to be measured under the same conditions. The search coil technique and videooculography allow natural viewing but only assess relative cycloduction, the dynamics of torsion over a short period of time. Cycloposition, on the other hand, can be measured by analysing the position of the foveola relative to the optic disc with fundus photographs but only in nonphysiological viewing. The aim of the study was to develop a technique that allows natural viewing conditions during fundus cyclometry. METHODS: The scanning laser beam of the SLO was deflected by 90 degrees with a semitransparent mirror in front of the patient's eyes. The patient was able to look through the semitransparent mirror with both eyes into the room, e.g. at Harms' tangent screen. The infrared SLO images the central retina via the mirror through the undilated pupil. Digital image analysis quantifies the cycloposition of the eye. Controlled head movements while fixating the centre of Harms' tangent screen allow measurements in reproducible gaze positions. RESULTS: The semitransparent mirror reduces SLO image brightness, but image quality is sufficient for cyclometry after contrast enhancement. The laser light can be vaguely perceived by the patient but does not interfere with natural viewing. Reproducibility of the measurement is within +/- 1 degree SD. CONCLUSION: Our modification of SLO fundus cyclometry allows direct measurements of cycloposition in natural viewing conditions. This opens a new field for investigations of cyclodeviations and their sensory and motor adaptations.

Preoperative evaluation of limbal dermoids using high-resolution biomicroscopy.

BACKGROUND: Only a few case reports have described the ultrasound biomicroscopic features of limbal dermoids. It remains unclear whether examination by ultrasound biomicroscopy (UBM) can detect the corneal depth of penetration which would improve planning of surgery. METHODS: Eight consecutive patients [two female, six male, 1-24 years old (median 8.5 years)] examined by UBM (Zeiss-Humphrey, 50 MHz) were retrospectively studied. Five of the dermoids were excised without corneal grafting and histopathological evaluation was obtained. RESULTS: Seven out of eight dermoids were located in the temporal lower quadrant. A Goldenhar syndrome was known in three cases. In all cases but one, UBM showed a more reflective and predominantly homogeneous lesion compared with the unaffected corneal stroma, so that the lateral margins of the lesion could be clearly identified. Incomplete stromal penetration of the dermoid was noticed in four cases; one eye showed a corneal full thickness dermoid. An intraocular protrusion was seen in one eye. Two more cases remained unclear because of reduced compliance. Descemet's membrane beneath the dermoid could not be visualized in most cases (seven out of eight) because of strong sound attenuation inside the lesion. Histopathological evaluation of five cases revealed the typical signs of a limbal dermoid. CONCLUSION: UBM improves the preoperative evaluation of limbal dermoids. Subtle examination technique for the depth of corneal penetration is required because of the strong sound attenuation in this tissue, reducing the visibility of deep corneal structures.

X-linked ocular albinism (Nettleship-Falls): a novel 29-bp deletion in exon 1. Carrier detection by ophthalmic examination and DNA analysis.

BACKGROUND: Mutations in the OA1 gene on the short arm of the X chromosome are known to cause X-linked ocular albinism (x1OA) in males. A four-generation family with this disorder, including asymptomatic carrier females, was investigated by molecular analysis of the OA1 gene. METHODS: DNA samples were available from 22 individuals of this family, including 6 affected males and 6 obligate carriers. The nine exons of the OA1 gene were amplified and further analyzed by SSCP and sequencing. RESULTS: A detailed clinical examination of the index patient and two female carriers showed the typical signs of ocular albinism. Visual evoked potential responses showed markedly asymmetrical responses from the two hemispheres in the affected person as well as in the carriers, as a result of misrouting and decussation of optic nerve fibers. Molecular genetic analysis demonstrated a previously undescribed 29-bp deletion at position 225-253 in exon 1 of the OA1 gene, which segregated in the family. CONCLUSION: Clinical examination combined with molecular genetic analysis enhances the potential for a precise diagnosis for persons at risk of x1OA and provide an accurate basis for genetic counseling.

Preliminary report: saccade analysis in acute Graves' ophthalmopathy.

A prospective study on the saccadic properties of 10 patients with acute Graves' ophthalmopathy (GO) compared to 10 healthy individuals was performed using the induction scleral search coil. No significant changes were observed among six patients with moderate disease. In four patients suffering from optic nerve compression, however, a substantial decrease of saccadic velocity and related parameters was detected. The absence of saccadic changes in earlier moderate stages of GO seems to be based on adaptation of the central saccadic generator. The velocity reduction in connection with a marked elevation of intraorbital pressure could be indicative of paretic motoneuron disturbances.

[Transnasal anchor suture for facilitating silicone tube intubation in deep congenital nasolacrimal duct stenosis]. / Transnasaler Ankerfaden zur Erleichterung der Silikonschlauchintubation bei tiefer kongenitaler Tränenwegsstenose.

BACKGROUND: In silicone intubation of the nasolacrimal duct for congenital obstruction, retrieval of the guide thread behind the inferior turbinate can be difficult and time consuming. To facilitate this maneuver a modification of the conventional technique has been developed. PATIENTS AND METHOD: In the conventional technique, a hollow probe was inserted into both lacrimal puncti and pushed downward into the nasal cavity. A guide thread was forwarded into the pharynx. Using the same hollow probe, a third guide thread was inserted transnasally and also forwarded into the pharynx. These three threads were pulled out of the pharynx transorally and tied together. Pulling on the nasal aspect of the transnasal guide brought all guides back into the pharynx and out of the nose. The intubation was completed in the conventional way. RESULTS: The new method was evaluated in 13 children. With the conventional technique the mean duration of the operation was 35 min, but the time required varied greatly among individuals due to retrieval of the guides. In contrast, no guide retrieval problem occurred using the new technique, and the average duration was reduced to 25 min. No adverse effect was observed. CONCLUSION: Using a simple modification, difficulties with the retrieval of the guide thread could be avoided, thus facilitating the procedure of nasolacrimal duct intubation and reducing its duration.

Clinical significance of saccade analysis in early active Graves' ophthalmopathy.

PURPOSE: To assess whether saccadic eye movements show distinct changes in patients with early active Graves' ophthalmopathy (GO), which could serve as a diagnostic tool for early detection and treatment. METHODS: Each of two prospective studies included 10 patients with early acute GO and 10 age- and sex-matched control subjects. In the explorative study (ES) 15 dynamic parameters of saccades were analyzed. In the comparative study (CS) only those parameters were evaluated, which in ES had shown significant differences between patients and controls. Horizontal and vertical saccades of 10 degrees, 20 degrees, and 40 degrees including a fatigue test were recorded binocularly using the induction scleral search coil. RESULTS: The differences of saccadic dynamics between patients and controls were small, whereas intra- and interindividual standard deviations were large. In ES, 7.1% of the parameters showed significant differences at a level of P < or = 0.05. In CS, 2.1% of all parameters revealed repetitive significant differences. Despite statistical significance, individual data did not allow differentiation between patients and healthy individuals due to high standard deviations. CONCLUSIONS: In early active GO no clinically relevant saccadic changes were detected. These findings may be based on adaptation of the central saccadic generator. Inclusion of patients with fibrotic muscle changes due to long-standing disease could explain the contrasting results of previous studies. Consequently, analysis of saccades does not serve as a diagnostic tool during early active GO.

[Changes in subjective cyclodeviation and objective cycloposition after modified Harada-Ito operation in acquired trochlear paralysis]. / Anderungen der subjektiven Zyklodeviation und der objektiven Zykloposition nach modifizierter Harada-Ito-Operation bei erworbener Trochlearisparese.

BACKGROUND: After recently published own investigations on subjective and objective cyclorotatory changes following inferior oblique recession for inferior oblique overaction, it was our aim to determine and to compare subjective and objective cyclorotatory changes following a modified Harada-Ito procedure for acquired trochlear palsy. PATIENTS AND METHODS: Eight patients suffering from acquired uni-(n = 3) or bilateral (n = 5) trochlear palsy were investigated before surgery and 1 day, 3 days and 4 months after surgery. Subjective cyclodeviation was assessed by Harms' tangent scale. Objective cycloposition was measured by means of fundus cyclometry using an infrared Scanning Laser Ophthalmoscope. RESULTS: The immediate postoperative incyclorotatory effect was 12 degrees in the unilateral group and 18 degrees in the bilateral group. Subjective and objective changes were nearly equal in both groups, with a subjective over-effect of 1 degree. After two days of binocular stimulation a marked regression of the surgical effect was found which still increased after four months. The long term incyclorotatory effect was subjectively and objectively nearly equal in the unilateral group which showed a relaps of subjective excyclodeviation of 5 degrees: in the bilateral group, the subjective effect was more pronounced than the objective effect, the immediate postoperative over-effect being disappeared. CONCLUSIONS: In contrast to our results concerning inferior oblique muscle recession for strabismus sursoadductorius, subjective and objective cyclorotatory changes did not differ grossly following a modified Harada-Ito procedure. Subjective and objective short and long term regression was confirmed which objectively exceeded the amount of over-correction. As the underlying cause mechanical and sensory mechanisms are discussed.

[North Carolina macular dystrophy. Hereditary macular disease with good functional prognosis]. / North-Carolina-Makuladystrophie. Hereditäre Makulaerkrankung mit guter funktioneller Prognose.

BACKGROUND: North Carolina macular dystrophy (NCMD) is a rare autosomal dominant maculopathy with highly variable expressivity. Genetic analysis of an American family consisting of 247 members out of which 96 were affected with NCMD allowed chromosomal assignment of the NCMD locus to 6q14-q16.2. Few families with NCMD are known in Europe, one of these is living in Germany. By routine investigation, a second family affected with NCMD was detected in Germany. As some authors still doubt the good prognosis of this disease, our results should be added to the experience of others. PATIENTS AND METHODS: In a total of 18 family members from three generations between the age of 2 and 65 years, clinical investigations and genetic analysis was carried out. Some individuals had additional examinations such as colour contrast sensitivity, EOG, ERG, and microperimetry. RESULTS: Ten of 18 family members turned out to be affected. All grades of NCMD were present with great variability. Visual acuity ranged from 0.32 to 1.0 and did not correlate to the grade of the disease or to the age of the person. In those patients who underwent microperimetry, central fixation was confirmed. Genetic linkage analysis further narrowed the region harbouring the NCMD locus and supported the assumption that the central areolar pigment epithelial dystrophy (CAPED) is an allelic disorder. CONCLUSION: Similar visual acuity in three generations of NCMD patients supports the observation that NCMD is not a progressive disorder. If geographic atrophy is found in a patient with good visual acuity, NCMD should be considered and genetic analysis should be carried out.