Ulrich H. Spandau

Prevalence and geographical distribution of Usher syndrome in Germany

AbstractPurpose.To estimate the prevalence of Usher syndrome in Heidelberg and Mannheim and to map its geographical distribution in Germany. Methods.Usher syndrome patients were ascertained through the databases of the Low Vision Department at the University of Heidelberg, and of the patient support group Pro Retina. Ophthalmic and audiologic examinations and medical records were used to classify patients into one of the subtypes. Results.The database of the University of Heidelberg contains 247 Usher syndrome patients, 63 with Usher syndrome type 1 (USH1) and 184 with Usher syndrome type 2 (USH2). The USH1:USH2 ratio in the Heidelberg database was 1:3. The Pro Retina database includes 248 Usher syndrome patients, 21 with USH1 and 227 with USH2. The total number of Usher syndrome patients was 424, with 75 USH1 and 349 USH2 patients; 71 patients were in both databases. The prevalence of Usher syndrome in Heidelberg and suburbs was calculated to be 6.2 per 100,000 inhabitants. There seems to be a homogeneous distribution in Germany for both subtypes. Conclusion.Knowledge of the high prevalence of Usher syndrome, with up to 5,000 patients in Germany, should lead to increased awareness and timely diagnosis by ophthalmologists and otologists. It should also ensure that these patients receive good support through hearing and vision aids.

Intravitreal Bevacizumab for Filtering Surgery

Background: It was the aim of this study to report on the intravitreal use of bevacizumab as antiproliferative agent in combination with filtering surgery. Methods: The clinical interventional case series study included 2 patients (2 eyes) who underwent standard antiglaucomatous penetrating filtering surgery combined with an intravitreal application of 1.5 mg bevacizumab. The intraocular pressure was elevated due to an intravitreal triamcinolone injection as treatment of exudative age-related macular degeneration (patient No. 1) or due to neovascular glaucoma (patient No. 2) after an ischemic retinal branch vein occlusion. Results: At 4 and 12 weeks after surgery, intraocular pressure was reduced in both patients to 10 and 14 mm Hg with functioning filtering blebs. Conclusions: Intravitreal bevacizumab may potentially be helpful as addition to antiglaucomatous filtering surgery, particularly in neovascular glaucoma.

A New Clinical Classification for Usher's Syndrome Based on a New Subtype of Usher's Syndrome Type I

Objectives Ushers syndrome is an autosomal recessive disorder characterized by sensorineural hearing loss and progressive visual loss secondary to retinitis pigmentosa. Ushers syndrome is both clinically and genetically heterogeneous. Three clinical types are known today.

Early Intravitreal Bevacizumab for Non-Ischaemic Branch Retinal Vein Occlusion

Purpose: To evaluate the effect of early intravitreal bevacizumab application in patients with macular oedema due to non-ischaemic branch retinal vein occlusion (BRVO). Procedures: The study included 21 patients (21 eyes) with macular oedema due to non-ischaemic BRVO. Inclusion criteria were significant macular oedema as measured by optical coherence tomography, loss of visual acuity and leakage in fluorescence angiography. All patients received 3 intravitreal injections of 1.5 mg bevacizumab. The mean follow-up was 6.2 ± 1.2 months (mean ± standard deviation). The mean duration of the BRVO prior to treatment was 9.2 ± 5.4 days. Results: The visual acuity improved significantly from baseline 0.81 ± 0.53 logMAR to 0.54 ± 0.47 logMAR (p < 0.001) at 1 month, 0.55 ± 0.46 (p = 0.001) at 3 months and to 0.55 ± 0.49 (p = 0.002) at 6 months after the first injection. The mean central retinal thickness decreased significantly (p < 0.001) from 492 ± 113 μm at baseline to 294 ± 117 μm at 1 month after the first injection to 325 ± 127 μm at 3 months (p < 0.001) and to 316 ± 117 μm at 6 months (p < 0.001) after the first injection. The increase in visual acuity correlated significantly (p < 0.01) with the decrease in macular thickness. Conclusions: Early intravitreal injection of bevacizumab may decrease macular oedema and improve visual acuity in eyes with non-ischaemic BRVO.

Early intravitreal bevacizumab for non-ischaemic central retinal vein occlusion

Purpose:  To evaluate the effect of early intravitreal bevacizumab injections for the treatment of macular oedema caused by non‐ischaemic central retinal vein occlusion (CRVO).

INTRAVITREAL BEVACIZUMAB FOR MYOPIC CHOROIDAL NEOVASCULARIZATION

BACKGROUND AND OBJECTIVE To evaluate the effect of intravitreal bevacizumab on visual acuity in patients with myopic choroidal neovascularization. PATIENTS AND METHODS The retrospective case series study included 13 patients with myopic choroidal neovascularization who received three intravitreal injections of 1.5 mg of bevacizumab. RESULTS At 1, 3, and 6 months after the first injection, mean visual acuity improved significantly from 0.63 +/- 0.41 logarithm of the minimum angle of resolution units (LogMAR) to 0.39 +/- 0.22 (P< .001), 0.47 +/- 0.49 (P= .002), and 0.52 +/- 0.49 LogMAR (P = 0.009), respectively. The increase in visual acuity was correlated with a significant decrease in central retinal thickness (P = .003) as measured by optical coherence tomography. Mean intraocular pressure did not change significantly (P> .05) during follow-up. CONCLUSION Intravitreal injections of bevacizumab may be a therapeutic option for exudative myopic macular degeneration.

Follow-up after intravitreal triamcinolone acetonide for diabetic macular edema.

Purpose To report on the follow-up of patients who received an intravitreal high-dosage injection of triamcinolone acetonide (IVTA) as treatment of diffuse diabetic macular edema. Methods The clinical interventional case-series study included 109 eyes (90 patients) with diffuse diabetic macular edema who consecutively received an IVTA of about 20 mg. Mean follow-up was 11.2 ± 6.2 months. Results Visual acuity improved significantly (p<0.001) from 0.89 ± 0.33 logMAR to a best minimum of 0.65 ± 0.35 logMAR. An increase in best visual acuity by at least 1 Snellen line, 2 lines, and 3 lines was found in 91 (83%) eyes, 68 (62%) eyes, and 45 (41%) eyes, espectively Differences in visual acuity between baseline and follow-up examinations were significant for measurements performed at 1 month (p<0.001), 2 months (p<0.001), 3 months (p<0.001), and at 6 months (p=0.001) after the injection. At 9 months after the injection, mean visual acuity regressed significantly so that visual acuity at 9 months (p=0.83) and at 12 months after the injection (p=0.58) compared with baseline values did not differ significantly. Forty-seven (43%) eyes developed a rise in intraocular pressure (pressure >21 mmHg) for 6 to 8 months after the injection. No other severe complications were detected. Conclusions The duration of a visual acuity increase and intraocular pressure rise after high-dosage IVTA in diffuse diabetic macular edema is about 6 to 8 months. Compared with data in the literature, the high-dosage IVTA may not have a markedly higher profile of side effects than low-dosage IVTA.

Intravitreal Bevacizumab versus Triamcinolone Acetonide for Exudative Age-Related Macular Degeneration

Background: To compare an intravitreal high-dose injection of triamcinolone acetonide with an intravitreal injection of bevacizumab for the treatment of progressive exudative age-related macular degeneration (AMD). Method: The comparative nonrandomized retrospective clinical interventional study included 305 patients with progressive AMD, divided into a bevacizumab group of 36 patients (1.5 mg bevacizumab) and a triamcinolone group of 269 patients (about 20 mg triamcinolone). All patients were consecutively included, in the first phase of the study for triamcinolone, and in the second phase of the study for bevacizumab. The mean follow-up was 8.5 ± 6.8 months (2–35.7 months). Results: In the bevacizumab group, best visual acuity increased significantly (p < 0.001) by 3.2 ± 3.4 Snellen lines, with 25 (69%) eyes and 21 (58%) eyes, improving by at least 2 and 3 Snellen lines, respectively. In the triamcinolone group, the visual acuity change was not statistically significant for any specific follow-up examination within the first 3 months. The maximal increase in visual acuity, the visual acuity change at 2 months after injection and the percentage of patients with an improvement by at least 2 and 3 Snellen lines were significantly (p < 0.001) higher in the bevacizumab group than in the triamcinolone group. Intraocular pressure increased significantly (p < 0.001) in the triamcinolone group and did not change significantly (p = 0.47) in the bevacizumab group. Conclusion: In exudative AMD, intravitreal bevacizumab (1.5 mg) compared with intravitreal triamcinolone acetonide (about 20 mg) results in a higher improvement of visual acuity and does not markedly influence intraocular pressure within 2 months after injection.

Intravitreal bevacizumab for choroidal neovascularisation secondary to punctate inner choroidopathy.

abdominal wall defects, ear anomalies, neonatal hypoglycaemia, hemihypertrophy (asymmetrical overgrowth of parts of the trunk and axial skeleton), intra-abdominal organomegaly and neoplasms and intracranial malformations. Epilepsy may occur but not typically neuro-ophthalmic manifestations. Approximately 80% of patients with BWS demonstrate imprinting anomalies of chromosome 11p15, resulting in overexpression of a growth-promoting gene (IGF-2) or silencing of a growth-inhibiting gene. Cases are commonly sporadic; however, autosomal dominant inheritance can occur. Generalized neonatal hypotonia is predominantly due to early cerebral insult (hypoxic or hypoglycaemic) or certain syndromes (e.g. Prader-Willi and Simpson–Golabi–Behmel syndromes) affecting central control of muscle tone. This case of confirmed BWS is of particular interest because of the presence of hypotonia and the neuroophthalmic manifestations of PTU. The birth history and investigations do not provide evidence of environmental insult or structural abnormality to explain these features. Overgrowth syndromes are reported to overlap BWS and hypotonia is seen in some. PTU on the other hand is commonly associated with hypotonia and this may reflect neurological dysfunction associated with abnormal mesencephalic vertical gaze control. This raises three possibilities: (i) could the hypotonia be a reflection of that overlap, leading to the manifestation of PTU; (ii) is it possible that PTU, only recognized in 1988, has unexplained associations and is still under-diagnosed because it occurs transiently early in the postnatal period; or (iii) are we dealing with two independent and rare syndromes that happened to occur in one infant? If this case raises the index of suspicion of PTU in association with unexplained neurological features, it would have served its purpose.

Combined intravitreal bevacizumab and triamcinolone in exudative age‐related macular degeneration

Acta Ophthalmol. 2010: 88: 630–634