Clinical diagnosis of Larsen syndrome, Stickler syndrome and Loeys-Dietz syndrome in a 19-year old male: a case report.

BACKGROUND: Larsen syndrome is a hereditary disorder characterized by osteochondrodysplasia, congenital large-joint dislocations, and craniofacial abnormalities. The autosomal dominant type is caused by mutations in the gene that encodes the connective tissue protein, filamin B (FLNB). Loeys-Dietz syndrome (LDS) is an autosomal dominant connective tissue disorder characterized by arterial aneurysms, dissections and tortuosity, and skeletal, including craniofacial, manifestations. Mutations in five genes involved in the transforming growth factor beta (TGF-ß) signaling pathway cause five types of LDS. Stickler syndrome is a genetically heterogeneous arthro-ophthalmopathy caused by defects in collagen, exhibiting a wide specter of manifestations in connective tissue. A rare case is reported that was diagnosed with all these three hereditary connective tissue disorders. CASE PRESENTATION: A 19 year-old, Norwegian male with a clinical diagnosis of Larsen syndrome and with healthy, non-consanguineous parents attended a reference center for rare connective tissue disorders. Findings at birth were hypotonia, joint hypermobility, hyperextended knees, adductovarus of the feet, cervical kyphosis, craniofacial abnormalities, and an umbilical hernia. From toddlerhood, he required a hearing aid due to combined conductive and sensorineural hearing loss. Eye examination revealed hyperopia, astigmatism, and exotropia. At 10 years of age, he underwent emergency surgery for rupture of an ascending aortic aneurysm. At 19 years of age, a diagnostic re-evaluation was prompted by the findings of more distal aortic dilation, tortuosity of precerebral arteries, and skeletal findings. High throughput sequencing of 34 genes for hereditary connective tissue disorders did not identify any mutation in FLNB, but did identify a de novo missense mutation in TGFBR2 and a nonsense mutation in COL2A1 that was also present in his unaffected father. The diagnosis was revised to LDS Type 2. The patient also fulfills the proposed criteria for Stickler syndrome with bifid uvula, hearing loss, and a known mutation in COL2A1. CONCLUSION: LDS should be considered in patients with a clinical diagnosis of Larsen syndrome, in particular in the presence of arterial aneurysms or tortuosity. Due to genetic heterogeneity and extensive overlap of clinical manifestations, genetic high throughput sequencing analysis is particularly useful for the differential diagnosis of hereditary connective tissue disorders.

Eye injuries in sports.

In a retrospective study from 1988 to 1998, eye injuries were found in 553 patients. Seventy-six (13.7%) of these injuries were associated with sport. The mechanism of trauma was for the most part a ball (71.1%) or a club (13.2%). Most eye injuries occurred in soccer (35.5%), which is, by far, the most widespread sport in this region of Norway. A disproportionately high number of the injuries occurred in floorball (17.1%), bandy (13.2%), and squash (10.5%). The rules in these sports may, in theory, be strict enough to prevent eye injuries in most cases. However, these rules are often neglected in informal activities. Strategies for educating the general public about the potentially serious effect of eye injuries in sports exposed to such risk are of great importance.

Phacoemulsification in eyes with pseudoexfoliation.

PURPOSE: To compare intraoperative and postoperative complications in eyes with and without pseudoexfoliation having cataract surgery by phacoemulsification. SETTING: Department of Ophthalmology, National Hospital, Oslo, Norway. METHODS: Of 1152 consecutive phacoemulsification procedures, 164 cases with pseudoexfoliation (Group 1) and 916 cases without (Group 2) were followed for 4 months after cataract surgery in a prospective study. Of all cataract operations performed during that time, 96.2% were phacoemulsification procedures; 90.4 and 97.4% in eyes with and without pseudoexfoliation, respectively (P < .0005). RESULTS: The frequency of capsular/zonular tear or vitreous loss was 9.6 and 3.7% in Groups 1 and 2, respectively (P = .0002). A visual acuity of 0.5 or better was achieved in 86.5% of eyes in Group 1 and 92.4% in Group 2 (P = .02). There were no statistically significant between-group differences in the frequency of a postoperative inflammatory response 1 day (6.7 versus 4.4%), 1 week (2.4 versus 1.6%), or 4 months (1.8 versus 0.9%) postoperatively. CONCLUSION: Phacoemulsification was safe in most eyes with pseudoexfoliation even though significantly more complications occurred intraoperatively in these eyes. The low frequency of an inflammatory response indicates that the presence of pseudoexfoliation does not significantly increase the risk of inflammation.

Accuracy of IOL calculation in cataract surgery.

The accuracy of IOL calculation using the SRK II formula was studied in 515 cataract extractions with posterior chamber IOLs. All excessively myopic patients (8 patients) and those where we had predicted an emmetropic postoperative result, from a consecutive series of 994 patients, were included. Preoperatively the patients were divided into different groups according to their refractive status and the mean postoperative refraction was calculated in each group. The mean postoperative refraction increased almost linearly with increasing myopic status. The emmetropic group achieved a mean postoperative refraction of -0.6 D, whilst in the most myopic group mean refraction was -1.8 D. We believe that the SRK II formula is inaccurate for myopic eyes, and that new formulas are needed, taking into account all those factors that make up the dioptric power of an eye.

Causes of decreased visual acuity after cataract extraction.

We analyzed a consecutive series of cataract extractions to determine the causes of unsuccessful results. Our criterion was a decrease in visual acuity from the preoperative measurement. Fourteen of 1237 eyes met this criterion. In three of the 14, visual acuity was decreased by more than two Snellen lines. Vitreous loss occurred in seven of the eyes. In six of these, cystoid macular edema developed. The reasons for reduced visual acuity were cystoid macular edema (eight eyes), an aggravation of age-related maculopathy (three eyes), and vitreous hemorrhage and herpetic keratitis (one eye each). A branch vein occlusion caused macular edema and vitreous hemorrhage in one eye. From this data, we recognize the importance of avoiding vitreous loss. If it does occur, we recommend that meticulous anterior vitrectomy be performed, with as little manipulation as possible.

[Quality indicators in cataract surgery]. / Kvalitetsindikatorer i kataraktkirurgien.

Outcome-based registration is an important aspect of quality assurance in clinical medicine. Cataract surgery has become a more advanced and difficult procedure than in the past. To assess the overall quality of cataract surgery in Norway, it is necessary to establish nationwide registration of relevant clinical data. We suggest a number of parameters identifying the quality of medical performance in cataract surgery. These parameters may be used in a central cataract register.

The influence of age on characteristics of cataract patients.

The influence of age on 12 pre-, 1 intra-, and 2 postoperative patients' characteristics was investigated in 1261 consecutively performed extracapsular cataract extractions. The following characteristics were shown to be significantly associated with increasing age; cardiovascular disease (p < 0.0005), female gender (p < 0.0005), nuclear sclerosis (p < 0.0005), maculopathy (p < 0.0005), corneal guttate (p = 0.008) and reducing visual acuity in the fellow eye (p < 0.0005). Further, inadequate mydriasis at start of surgery was significantly associated with increasing age even after adjusting for glaucoma and pseudoexfoliation (p = 0.0007). After adjusting for pseudoexfoliation, a statistically significant relationship still existed between age and glaucoma (p = 0.0235). Even after controlling for relevant variables, i.e. maculopathy, a highly significant association was found between reducing visual acuity 4 months postoperatively and increasing age (p < 0.00005). Diabetes mellitus, the degree of cataract maturity, preoperative visual acuity of the operating eye, vitreous loss and postoperative inflammatory response were not significantly associated with increasing age.

Cataract surgery with implantation of IOL in patients with uveitis.

Traditionally, IOL implantation in eyes with uveitis has not been recommended. In the present study 31 eyes with uveitis which underwent extracapsular cataract extraction or phacoemulsification with IOL implantation, are compared to a reference group consisting of 930 eyes. There was increased postoperative inflammation in 29% in the uveitis group, compared to 5.9% in the reference group. The rate of per- and postoperative complications was slightly elevated in the group with uveitis. Corrected visual acuity of 5/8.5 or better was achieved in 58.1%. The major obstacle to good visual acuity postoperatively, was macular pathology.

Extracapsular cataract extraction in eyes previously operated for glaucoma.

Extracapsular cataract extraction with IOL implantation was performed in 32 consecutive cases of glaucomatous eyes which previously had undergone trabeculectomy (group A). The only complication seen during surgery was one tear in the posterior capsule. The mean IOP on postoperative day 1 was 17.7 +/- 7.9 mmHg. After extracapsular cataract extraction in 68 glaucomatous eyes with no previous surgery (group B) the corresponding mean IOP was 21.7 +/- 7.5 mmHg (p = 0.015). However, the mean preoperative IOP level was lower in group A (group A: 14.3 +/- 4.0 mmHg, group B: 17.1 +/- 4.3 mmHg), so the increase in IOP was not significantly different in the two groups. In group A, 15.6% of the eyes had an IOP elevation exceeding 24 mmHg, compared to 30.9% of the eyes in group B. Four months postoperatively, the IOP was significantly reduced in group B and unchanged in group A (compared to preoperatively). Seventy-two percent of the eyes in group A and 79% of the eyes in group B achieved a visual acuity of 5/10 or better, respectively.

Pattern of characteristics in cataract patients.

Cataract extraction was performed in 1261 eyes. The relevant information was complete in 826 cases and thus only these were included in this study. Eleven variables describing clinical history, preoperative findings, operative problems and one variable representing visual acuity 4 months postoperatively were entered into a factor analysis model. Three factors were extracted by factor analysis, and these factors may be considered to be the underlying causes embracing the individual variables. Factor 1: the maculopathy factor; explained 23.3% of the total variance. Sixteen percent of the variance was attributable to Factor 2: the miosis factor. Lastly, Factor 3: operative problems; was responsible for 13.4% of the variance. The maculopathy factor was significantly associated with postoperative visual acuity (p < 0.001). Slight significant association was also found between the factor for operative problems and visual outcome, whereas no association was seen between the miosis factor and the final vision.

Risk factors for an inflammatory response after extracapsular cataract extraction and posterior chamber IOL.

Risk factors for developing an inflammatory response after extracapsular cataract extraction with implantation of posterior chamber IOL have been studied. Out of 1154 cases included in the study, an inflammatory response was encountered in 63 eyes (5.5%). The inflammatory response was defined as increased cellular flare and/or as a fibrinous reaction during a follow-up of 4 months. Thirteen of the 63 eyes (20.6%) developed cellular precipitates, and posterior synechias were seen in 34 of these eyes (54.0%). Among 10 pre- and 10 peroperative putative risk factors analyzed in a logistic regression model, 5 variables had a statistically significant influence on the probability of developing postoperative inflammation; 1) Uveitis in history (p = 0.0001), 2) Pseudo-exfoliation syndrome (p = 0.0224), 3) Inability to obtain adequate mydriasis at the start of surgery (p < 0.0001), 4) Problems with IOL implantation (p = 0.0111) and 5) Pigment effusion during surgery (p = 0.0258).

Pseudoexfoliation syndrome and extracapsular cataract extraction.

Extracapsular cataract extraction (ECCE) in 139 eyes with pseudoexfoliation syndrome was compared to 762 eyes without pseudoexfoliation syndrome in a consecutive study. Preoperative findings, operative procedure and problems were registered, stored and analyzed in a computer program package. Of the patients with pseudoexfoliation syndrome 88.5% were 70 years or older, compared to 67.2% of the patients without pseudoexfoliation syndrome (p < 0.001). Glaucoma occurred in 48.9% of eyes with pseudoexfoliation syndrome and in 6.8% of eyes without pseudoexfoliation syndrome, respectively. Poorly dilated pupil was demonstrated in 46.8% and in 5.8% of eyes with and without pseudoexfoliation syndrome, respectively. Capsule/zonulae tears (without vitreous loss) occurred in 4.3% of the pseudoexfoliation syndrome eyes, compared to 1.3% in eyes without pseudoexfoliation syndrome (p < 0.05). The incidence of vitreous loss was similar in both groups. We found no correlation between the pupil size and capsule/zonulae tears or vitreous loss in either group. In conclusion, when appropriate care is undertaken, ECCE with posterior chamber IOL implantation is a safe procedure in pseudoexfoliation syndrome eyes.

Results and complications after extracapsular cataract extraction in eyes with pseudoexfoliation syndrome.

Postoperative results and complications in 136 eyes with pseudoexfoliation syndrome were compared to 744 eyes without pseudoexfoliation syndrome in a consecutive study. The patients were followed for 4 months postoperatively. Excluding cases with glaucoma, 81.4% of the pseudoexfoliation eyes and 83.0% of the eyes without pseudoexfoliation achieved a corrected visual acuity of 5/8.5 or better. IOL malposition was rare in both groups (1.5% in the pseudoexfoliation group and 1.6% in the group without pseudoexfoliation). IOP elevation the first day postoperatively occurred most often in the pseudoexfoliation eyes. In the pseudoexfoliation eyes, postoperative iritis and cellular precipitates were demonstrated in 16.2% and 11.0%, respectively, compared to 3.8% and 3.2% in the eyes without pseudoexfoliation (p < 0.001). The frequency of an inflammatory reaction was highly correlated to small pupil size during operation in both groups.

Cataract surgery. Computer-based registration and analysis of data.

Consecutive registration, rapid retrieval and relevant analysis of information about cataract patients were obtained by applying a data form. The form was designed to be used with a statistical computer program (SPSS/PC). Data describing cataract cases, operations and postoperative controls were recorded. The information is contained in 76 variables, each with up to 10 alternative answers. The main advantages are the opportunity for quality control and clinical research. As an example, an analysis of the pre- and postoperative visual acuity is presented. Originally, the material consisted of 969 eyes, and of these, 948 eyes were available for follow-up. The postoperative corrected visual acuity was 5/5 or better in 57.2% of the eyes. In 80.4% of the eyes a visual acuity better than 5/10 was achieved. The main cause of postoperative visual acuity less than 5/8.5 was age-related macular degeneration (115 eyes). This maculopathy was recognized preoperatively in 76 eyes.

Secondary implantation of flexible open loop anterior chamber IOLs.

Secondary implantation of flexible, open loop anterior chamber IOLs was performed on 20 aphakic eyes between January 1990 and May 1992. In 3 cases anterior vitrectomy was necessary. No other complications were encountered during surgery. The patients were followed up for 4 months postoperatively. Seventeen eyes achieved a corrected visual acuity of 5/5 or better. Fourteen eyes achieved the same visual acuity as preoperatively, and 5 ended with an improved visual outcome. In one case the visual acuity became worse than preoperatively due to cystoid macular edema. No other serious postoperative complications occurred. The postoperative refraction was within 1 diopter of emmetropia in 16 eyes compared to the estimated (biometry) 19 eyes. We conclude that implantation of flexible open loop anterior chamber IOLs is a safe procedure in properly selected cases.

Trabeculectomies. A long-term study.

This study comprises 277 primary open-angle glaucomas in 239 patients followed up to 10 years after trabeculectomy. Sixty-four per cent had capsular glaucoma and 36% simple glaucoma. The number of cases showing no progression of glaucoma damage and not needing additional medical therapy decreased slowly with time. Seventy-five per cent showed no progress after one year, 70% after 2 years, 57% after 5 years and 42% after 10 years. There was a significant trend that fewer capsular glaucomas progressed than simple glaucomas. High pressure levels before trabeculectomy did not indicate a bad prognosis. Cases with advanced or moderate glaucomatous damage seemed to have the same prognosis. Cataract was a common complication; a 50% reduction of preoperative visual acuity was found in 37% of eyes after 5 years of follow-up.

[EDP based medical records]. / EDB-basert skjemajournal.

In our department we have begun to write our patients' medical history files in a computer data base. Each file is organized as a series of questions where it is possible to choose among several alternative answers instead of writing out each patient's history. We use a commercial software package modified to our specific needs. Statistical analysis of patients' files is included in the programme, to enable continuous quality control analysis of our performance.

[Cataract extraction with bifocal lens implantation]. / Kataraktekstraksjon med implantasjon av bifokal intraokulaer linse.

Extracapsular cataract extraction with implantation of an intraocular lens (IOL) is a routine operation in Norway today. With the conventional monofocal IOL, most people require spectacles post-operatively to attain optimal vision. A new principle is the bifocal IOL, which is designed to minimize the patient's need for additional post-operative near vision correction. In this article we present the first results using this bifocal lens. Ten out of 17 patients (18 eyes) had no need of post-operative spectacles. We believe that this lens represents a promising new optical principle, and is an advance in IOL implant technology.