Hereditary hyperferritinemia cataract syndrome: clinical, genetic, and laboratory findings in 5 families.

BACKGROUND: The hereditary hyperferritinemia cataract syndrome (HHCS) is an autosomal dominant disorder characterized by high serum ferritin and early onset cataract. Mutations in the iron responsive element (IRE) within the 5' untranslated region of the L-ferritin (FTL) gene lead to constitutive L-ferritin synthesis resulting in hyperferritinemia. Bilateral cataract formation is caused by the intracellular accumulation of ferritin in the lens. PATIENTS: 4 children from unrelated families were referred for further exploration of hyperferritinemia which was detected during the diagnostic work-up of gastroenterological or hematological disorders. 1 patient was primarily referred for the investigation of bilateral cataract.Diagnostics included routine blood analysis, including complete blood count, iron status, liver and kidney parameters, a physical and an ophthalmological examination. Molecular genetic analysis of the FTL IRE was performed in 4 patients by PCR from genomic DNA and subsequent direct sequencing. RESULTS: All index patients presented with isolated hyperferritinemia without iron overload and had a positive family history for early onset cataract. Age at onset and disease severity varied between different families and among family members. Molecular genetic analysis revealed point mutations within the FTL IRE. CONCLUSION: In patients with hyperferritinemia but without any other sign of iron overload or inflammation HHCS should be considered to avoid complex and invasive procedures. Vice versa, in patients with familial inherited cataract the early serum ferritin measurement helps to avoid unnecessary diagnostics.

[Intra- and interindividual comparison of corneal refraction measured by IOL-Master vs. corneal topography]. / Intra- und interindividueller Vergleich der Hornhautbrechkraft gemessen mit IOL-Master vs. Hornhauttopografen.

BACKGROUND: Especially for the implantation of toric intraocular lenses an exact regulation of the corneal astigmatism is important. PATIENTS AND METHODS: 60 eyes of 30 subjects with astigmatism were examined in a period of one year. The corneal refraction was measured at three different times, each examination was repeated three times, both with the IOL-Master (Fa. Zeiss, Jena) and a corneal topograph (CSO Eye Top). The results were compared intra- and interindividually. Eyes with conjunctival or corneal inflammation, dry eye syndrome or malformation of the eyelid were excluded. Data were statistically evaluated. RESULTS: Both the amount and the axis of corneal astigmatism were significantly different for the two devices (IOL-Master and corneal topography). Intraindividually, the mean astigmatism was 1.18 D measured by the IOL-Master (median 1.0 D) and 1.07 D measured by corneal topography (median 0.88 D). This results in a dispersion about the median of 0.54% by the IOL-Master and of 0.32% by corneal topography. Intraindividually, the mean axis of astigmatism was 73 degrees measured by the IOL-Master (median 103 degrees) and 90 degrees measured by corneal topography (median 104 degrees). The dispersion about the median of axis values was 0.55% by the IOL-Master and 0.28% by corneal topography. Use of the Wilcoxon test results in a dispersion of values of less than 2% probability value for both the amount and the axis of corneal astigmatism (p < 0.1). CONCLUSIONS: Values measured by the IOL-Master show a wider distribution than values measured by corneal topography. The statistical spread was significant, although it was less than 3% for both intra- and interindividual measurements by the two devices. Although the median is almost equal for measurements by the IOL-Master and corneal topography, dispersion about the median is almost twice as high for intraindividual measurements by the IOL-Master. Therefore, the accuracy of measurements conducted with corneal topography is significantly higher as compared to the IOL-Master.

[Refractive aspects of modern cataract surgery]. / Refraktive Gesichtspunkte moderner Katarakt- Chirurgie.

OBJECTIVE: Modern cataract surgery is a refractive procedure whereby one basically can achieve the targeted postoperative refraction. METHODS: To achieve this goal, according to the patient's wishes, biometry, mathematical calculation of IOL power and astigmatism management are important factors. On the other hand, multifarious developments in intraocular lens technology also contribute to this target. RESULTS: The individual choice of incision (on axis surgery: incision in the steeper meridian, length, shape and location concerning cornea or sclera) reduces the preoperatively existing astigmatism. Biometry with personalised data and formulas of the third generation are important factors to achieve the targeted refraction. In addition to this, the development of manifold lens designs in the last years to improve intraocular lens quality has enabled progress within various domains, for example, the use of optimised intraocular lenses to compensate corneal aberration, the implantation of toric lenses for corrections of higher pre-existing corneal astigmatism or the use of phacic intraocular lenses to correct higher ametropia. CONCLUSION: Patient satisfaction postoperatively depends on the precise refractive result as desired. With our current operative and technical possibilities we are able to achieve this with high probability and safety.

[Comparison of different methods for pupillometry for mesopic and scotopic conditions]. / Vergleich verschiedener Pupillometrieverfahren unter mesopischen und skotopischen Bedingungen.

BACKGROUND: The aim of the study was to compare different methods for pupillometry, namely the Goldmann perimeter (gp), the Colvard pupillometer (cp) and the Procyon Video pupillometer (pvp). For the pvp three different illuminations were available: mesopic high, mesopic low, and scotopic. PATIENTS: The size of the pupil was measured in 100 eyes (50 healthy subjects) with the three different methods. We examined 29 females (58 %) and 21 males (42 %) with an average age of 25.16 years, ranging from 18 to 30 years. RESULTS: For the Goldmann perimeter, a mean pupil diameter of 4.39 mm +/- 0.62 mm was found under mesopic conditions (1.40 lux). For the Colvard pupillometer for scotopic conditions (0 lux), a mean pupil diameter of 6.80 mm +/- 0.81 mm was found. For pvp the pupil diameter ranged from 7.06 mm +/- 0.71 mm for scotopic (0.04 lux), over 6.24 mm +/- 0.80 mm for mesopic low (0.40 lux) to 4.65 mm +/- 0.73 mm for mesopic high conditions (4.00 lux). CONCLUSION: The comparison of the results showed a high correlation between the Goldmann perimeter and the Procyon Video Pupillometer for mesopic high with a minimum difference of 0.25 +/- 0.69 mm. By addition of 2.67 mm to the mesopic measurement of the Goldmann perimeter, the results for the Procyon Video pupillometer at the scotopic level, by addition of 2.4 mm the scotopic measurement of the Colvard pupillometer could be achieved.

[Cataract surgery with implantation of toric silicone lenses for severe astigmatism after keratoplasty]. / Kataraktoperation mit Implantation torischer Silikonlinsen bei hohem Astigmatismus nach Keratoplastik.

BACKGROUND: The treatment of high astigmatism after keratoplasty is often not possible with glasses or refractive corneal surgery, particularly in patients with anisometropia and contact lens incompatibility. METHODS: In 3 patients with cataract and high astigmatism after penetrating keratoplasty, phacoemulsification was performed via a 4 mm sclerocorneal tunnel incision. A toric silicone lens with Z-haptic was implanted in the bag (Type MS 6116 TU, Dr. Schmidt). All patients had high anisometropia and contact lens incompatibility. The follow-up was ten weeks, uncorrected and corrected visual acuity, corneal and total astigmatism were evaluated. RESULTS: A 68-year-old female presented with corneal astigmatism of 10 dpt. Keratoplasty was performed two years earlier. After implantation of a toric lens (+ 22.5 + 11.0 dpt.) uncorrected visual acuity increased from 1/50 to 20/40, corrected visual acuity increased from 20/30 to 20/25. A 78-year-old male presented with irregular corneal astigmatism of 6.5 dpt. Keratoplasty was performed 25 years previously. Due to high myopia (corneal radii 5.3/5.9 mm), implantation of a toric lens (- 3.0 + 7.0 dpt.) in the bag was combined with implantation of a spheric lens (- 6.0 dpt., Type MS 614, Dr. Schmidt) in the sulcus. Uncorrected visual acuity increased from light perception to 1/20, corrected visual acuity increased to 1/10. An 84-year-old female presented with irregular corneal astigmatism of 8.6 dpt. Keratoplasty was performed two years earlier. After implantation of a toric lens (+ 16.0 + 11.0 dpt.) uncorrected visual acuity increased to 20/50, corrected visual acuity increased from 20/100 to 20/25. During the follow-up all implanted lenses were well-centered and no significant IOL rotation was observed. CONCLUSION: Implantation of foldable toric silicone lenses during cataract surgery may improve considerably the uncorrected visual acuity by reducing the total astigmatism in patients with high astigmatism after keratoplasty. Preoperatively, a reliable keratometry is important.

[Spontaneous dislocation of intraocular lens with capsule as a late complication of cataract surgery in patients with pseudoexfoliation syndrome --five case reports]. / Spontane Dislokation der Hinterkammerlinse mit Kapselsack als späte Komplikation einer Kataraktoperation bei Patienten mit Pseudoexfoliationssyndrom -- fünf Fallbeispiele.

PURPOSE: Pseudoexfoliation syndrome (PEX) is associated with zonular weakness and a higher frequency of intraoperative complications during cataract surgery, including rupture of the posterior lens capsule, zonular dialysis and a rise of intraocular pressure occurring postoperatively. Delayed dislocation of an IOL is a rarely reported phenomenon. PATIENTS: Within one year, late dislocation of the lens capsule with the in the bag fixated IOL was observed following cataract surgery in five patients (67, 74, 79, 90 and 92 years old) with pseudoexfoliation syndrome. RESULTS: All patients had an uneventful in the bag implantation of the IOL 6 (three patients), 3 and 11 years ago, respectively. Postoperatively occurring secondary cataract was treated by a YAG-capsulotomy in four cases. No patient had any other predisposing factors that would lead to zonular weakness besides the pseudoexfoliation syndrome. The dislocation of the IOL and capsule occurred spontaneously. In one patient with preexisting glaucoma, the dislocation was followed by an increase of intraocular pressure. All cases were successfully treated with IOL explantation, anterior vitrectomy and placement of an anterior chamber IOL. CONCLUSION: Patients with pseudoexfoliation syndrome undergoing cataract surgery may be at risk not only for intraoperative complications but also for delayed spontaneous dislocation of the IOL and capsule. This possible complication should be considered in surgical planning for patients with pseudoexfoliation syndrome. In these patients it may be better to implant the IOL in the ciliary sulcus.

[Optic nerve evulsion: Metaanalysis]. / Evulsio nervi optici: Metaanalyse.

BACKGROUND: Evulsion of the optic nerve is a rare form of traumatic optic neuropathy. It is a rupture of the optic nerve at the disc without damage of its sheaths occurring in association with a blunt skull trauma or a blunt bulbar trauma. MATERIAL AND METHODS: We searched the literature using Medline database for all articles with evulsion of the optic nerve. The bibliographies of the papers found therein were used to get a complete review. The data were analyzed with special regard to age, sex, mechanism of injury, and (if available) defects of visual field. RESULTS: Sixty-three patients with a mean age of 22 years (range 4 to 60 years) were included in the study. In 22 patients (35 %) a partial and in 41 patients (65 %) a complete evulsion was present. In 31 patients (49 %) the cause was a small blunt object or finger that stroke the eye or entered the orbita. In 19 patients (30 %) a severe blunt skull trauma had occurred. The analysis of visual fields in eyes with partial evulsion of the optic nerve revealed a defect in the superior visual field in 6 of 12 patients and a defect in the inferonasal visual field in 3 of 12 patients. PATHOGENESIS: Our review suggests that the most common mechanism of injury is a severe rotation of the eye leading to rupture of the optic nerve fibers and an anterior displacement of the bulbus, possibly with deformation of the posterior eye walls.

[Prospective randomized comparative study of frequency doubling perimetry vs standard automated perimetry in patients with glaucoma]. / Prospektive, randomisierte Vergleichsstudie von frequenzverdoppelnder Perimetrie und standardisierter automatischer Perimetrie bei Patienten mit Glaukom.

AIM: To compare frequency doubling perimetry (FDP) versus standard automated perimetry in glaucoma. To evaluate the reproducibility of both methods. PATIENTS AND METHODS: All the patients were tested (full threshold test) twice with both FDP (N-30) and Humphrey Field Analyzer II model 750 (HFA) (30-2 procedures) in random sequence, within one day. The parameters mean deviation (MD), pattern standard deviation (PSD) and measured thresholds per quadrant and center areas were evaluated for FDP/HFA comparison in 45 glaucoma patients. The same parameters were used for testing the reproducibility of FDP (n = 46) and HFA (N = 39). Additionally, the center and each quadrant area were checked for any deviation in the total deviation probability plots. For statistical analysis Kappa coefficients and Bland/Altman plots were used. RESULTS: An average MD (FDP vs HFA) of -7.3 +/- 5.8 dB vs -8.9 +/- 7.6 dB and PSD of 6.9 +/- 2.4 dB vs 6.5 +/- 3.6 dB were found. Kappa coefficients denote marginal accordance (kappa: 0.11-0.38) for area deviations. In a total of 225 areas HFA detected 191 deviations and FDP 165. HFA measured more negative deviation compared with FDP in the case of MD < -15 dB. The reproducibility was 0.98 (MD) and 0.92 (PSD) for FDP and 0.98 (MD) and 0.95 (PSD) for HFA (95% confidence interval). CONCLUSIONS: There was great conformity between FDP and HFA in glaucoma patients. HFA detected more deviations in the total deviation probability plots than FDP. There was a high reproducibility of both methods. FDP is an appropriate tool for detecting visual field loss in glaucoma patients.

[Contusion of the optic nerve after minor blunt ocular trauma: case report and literature review]. / Contusio nervi optici nach geringgradigem stumpfen Bulbustrauma. Ein Fallbericht mit Literaturübersicht.

INTRODUCTION: Isolated trauma of the optic nerve usually occurs in association with blunt skull trauma involving fractures of the skull and optic canal, but rarely occurs from blunt ocular trauma. CASE REPORT: A 7-year old boy fell and struck his left eye against a toy antenna. The initial examination revealed a visual acuity of 0.2 and slight edema of the optic nerve head. Perimetry revealed a defect in the superior and nasal visual fields. CT and MRI scans of the orbit were normal. Nine months after the injury, vision had improved to 1.0. On examination, optic nerve atrophy had developed and perimetry continued to display a defect in the superior visual fields. DISCUSSION: The mechanism of optic nerve damage secondary to trauma can be classified as primary or secondary. Primary damage occurs as a result of external forces at the moment of trauma, e.g., rupture of nerve fibers or of capillary vessels. Secondary damage may not be present initially, but may occur later on and results from compromised blood supply to the optic nerve, e.g., following edema or angiospasm. In our patient, it is not clear whether the damage was primary or secondary. CONCLUSION: Damage to the optic nerve can be caused by blunt skull trauma and, rarely, also by blunt ocular trauma. This fact is of importance when considering legal and reimbursement issues.

[Ultrasound biomicroscopy in iris lesions]. / Ultraschallbiomikroskopie bei Irisbefunden.

INTRODUCTION: It is difficult to classify lesions of the iris, especially when they are posterior or in the iridociliary angle of the eye. METHOD: We used an ultrasound biomicroscope (Humphrey, Zeiss, Oberkochen, Germany) with a high-frequency sound head (30 and 50 Hz). This study included all patients with unspecified iris processes who were examined at the University Eye Clinic and Hospital of Ulm between September 1996 and February 1997. Fifteen patients, aged between 9 to 82 years (average age = 48.9 years), were prospectively evaluated. RESULTS: A cyst of the iris or ciliary body causing a tumor of the iris was found in six cases (40%). Seven patients (47%) showed a solid tumor of the iris and two patients (13%) a solid tumor of the ciliary body. CONCLUSION: The ultrasound biomicroscope can be used to assess lesions of the iris caused by a cyst or a solid tumor. The increasing size and depth expansion of a solid tumor may be helpful for differentiating between a malignant or benign process. Up to now it has not been possible to use the ultrasonic reflectivity of the tumor to decide if it is malignant.

Simultaneous onset of pyoderma gangrenosum and bitemporal abscesses of the upper eyelids during a flare of ulcerative colitis.

A case of simultaneous appearance of bitemporal sterile abscesses of the upper eyelids and pyoderma gangrenosum in an 80-year-old woman with an acute flare of ulcerative colitis is described. Therapy with high-dose corticosteroids led to healing of the skin and upper eyelid lesions and induced remission of ulcerative colitis.

[Idiopathic conjunctival lymphangiectasia]. / Idiopathische konjunktivale Lymphangiektasie.

PATIENT: A 41-year-old male was evaluated for multiple yellowish cysts on the temporal bulbar conjunctiva of his right eye. These cysts have spontaneously developed over a period of one week, have been punctuated, and recurred one week later in an even greater number. The patient's ophthalmologic and medical history were normal. Complete excision of the largest cysts and marsupialization of the smaller cysts were performed. Histologic features of the excised cysts were consistent with lymphangiectasia and displayed dilated lymphatic channels. CONCLUSION: Conjunctival lymphangiectasia is a benign condition of unknown etiology. It has been observed with many underlying diseases as well as spontaneously and the dilated lymphatic channels can secondarily become hemorrhagic (Hemorrhagic lymphangiectasia of the conjunctiva). Simple excision and/or marsupialization are therapeutic options.

[Ab-interno sclerostomy with the excimer laser via a quartz fiber in albino rabbits]. / Ab-interno Sklerostomie mit dem Excimerlaser über Quarzfaser am Albinokaninchen.

After attempting to induce experimental glaucoma in 20 albino rabbits by topical administration of 0.1% dexamethasone, ab-interno sclerostomy with an excimer laser at 308 nm via a quartz fiber was performed in one eye of each animal. Preoperatively, the sclera was stained with a UV-absorbing drug (sulfisomidine) in 10 rabbits; to shield the lens from scattered radiation, another UV absorber (fluorescein) was injected additionally into the anterior chamber. The other 10 rabbits were operated on without pretreatment. A full-thickness sclerostomy was performed in all animals. Most of the eyes upon operated showed minimal inflammation in the first few postoperative days. The intraocular pressure in the operated eyes was reduced compared to the fellow eye for about 3 months. Histology showed a 50-microns broad, smooth, thermally damaged zone at the edges of the sclerostomy. Clinical and histological investigation showed no evidence of UV-induced damage on the lens or retina in either group. Application of the UV absorber led to a significant decrease in the number of pulses required to perforate the sclera, but had no influence on the clinical history.

[Fluorescence behavior of the cornea with 193 nm excimer laser irradiation]. / Fluoreszenzverhalten der Hornhaut unter 193 nm Excimerlaserbestrahlung.

Fluorescence spectra of human, bovine and porcine corneas were measured under 193 nm excimer laser irradiation. Secondary radiation occurs in the mutagenic range between 260 and 290 nm. In situ measurements via a quartz fiber introduced into the eye to the lens surface showed that secondary radiation in the cataractogenic range between 295 and 320 nm is transmitted by the cornea and reaches the lens. The potential adverse effects of this secondary radiation should be considered when applying 193 nm excimer laser radiation to the cornea.

[In vitro studies of refractive corneal surgery using the excimer laser with quartz fiber]. / In vitro Untersuchungen zur refraktiven Hornhautchirurgie mit dem Excimer-Laser über Glasfaser.

With the application of different approved drugs, UV absorption of the cornea at 308 nm could be increased by more than three orders of magnitude, which provided effective shielding of intraocular structures against 308 nm excimer laser radiation. The width of the thermal damage zones at the edges of 308 nm excimer laser excisions was reduced to a few micrometers by our treatment. The ablation threshold was reduced by this treatment and the ablation rates were increased by a factor of three to five. In principle, these results offer the possibility of performing refractive corneal surgery with excimer lasers at 308 nm via quartz fibers.