The mutation p.D313Y is associated with organ manifestation in Fabry disease.

Fabry disease (FD) is a multisystem lysosomal storage disorder caused by mutations in the GLA gene. The clinical significance of the mutation p.D313Y is still under debate. Retrospective chart analysis of clinical (neurological, cardiac, renal, and ophthalmological), genetic, and biochemical (lyso-globotriaosylsphingosine, lyso-Gb3; enzyme activity) data was performed in all our patients carrying the p.D313Y mutation. Fourteen patients from 5 families (10 female, 4 male; age range 10-51) were included. Symptoms and organ manifestations compatible with FD could be identified in 10 patients. Cerebrovascular events occurred in 4 females. Seven patients reported pain or acroparaesthesia. Cornea verticillata was found in 1 patient, mild retinal vascular tortuosity in 5 patients. Lyso-Gb3 was elevated in 2 females with cerebrovascular involvement. Classical cardiac, renal or skin manifestations could not be identified. The mutation p.D313Y in the GLA gene may lead to organ manifestations and elevation of the Fabry-specific biomarker lyso-Gb3. Neurological symptoms (stroke and pain) and ocular manifestations seem to be the leading findings. Annual routine visits are recommended for patients carrying the p.D313Y mutation. Enzyme replacement therapy might be considered in symptomatic patients.

[Vismodegib Therapy for Periocular Basal Cell Carcinoma]. / Die Behandlung periokulärer Basalzellkarzinome mit Vismodegib.

Background Basal cell carcinoma (BCC) is the commonest periorbital tumour. Mohs' micrographic surgery and secondary reconstruction is the therapeutic gold standard for periorbital BCC. In cases of inoperability for any reason, therapeutic alternatives are needed. Since the approval of vismodegib, an orally administered, targeted BCC therapy is available. Nevertheless there is little information on the use of vismodegib for periorbital BCC. Patients and Methods In a retrospective study, we analysed the data of 4 patients treated with vismodegib since 2014. The patients' mean age before starting therapy was 87 years. The mean maximum tumour diameter was 22.0 mm. Results The median follow-up was 17 months. The median treatment duration was 7.5 months. In 75 % of patients, complete clinical remission of BCC was achieved. In 25 % of patients, interim stabilisation of tumour growth was possible. The most common side effect of therapy was muscle spasm. Conclusion Vismodegib is an effective treatment option for patients with periorbital BCC, in whom surgical treatment is not possible for any reason.

[Comparative analysis of refractive and topographic changes after eyelid surgery]. / Vergleichende Analyse der Refraktions- und Topographieveränderungen nach lidchirurgischen Eingriffen.

BACKGROUND: There is largely a lack of clarity on the question of whether refraction or topography changes are to be expected after blepharoplasty, levator resection, or a lateral tarsal strip procedure. MATERIALS AND METHODS: Therefore, in the present study, objective refraction, anterior eye segment tomography, and visual acuity tests were carried out pre- and postoperatively in 78 patients and then analyzed. The examination was carried out preoperatively, at suture removal after 10 days, and after 3 months. RESULTS: Neither after blepharoplasty nor after a lateral tarsal strip procedure were significant changes in vision or refraction seen in the topography. In contrast, the Wilcoxon sign test 10 days after levator resection showed a significant increase in the cylinder after 10 days compared to the preoperative level (p = 0.042). However, this change was no longer detectable after 3 months. CONCLUSION: The authors postulate that extensive patient education with regard to temporary visual changes, particularly in the case of levator resections, is essential and that additional refraction and topography control can be useful postoperatively.

[Comparison of subjective improvement in quality of life of patients after open and minimally invasive surgical techniques for recanalization of lacrimal duct stenosis in 2015-2018]. / Vergleich der subjektiven Lebensqualitätsverbesserung von Patienten nach eröffnenden und minimal-invasiven Operationstechniken zur Rekanalisierung von Tränenwegsstenosen in den Jahren 2015 bis 2018.

BACKGROUND: Open and minimally invasive tear duct surgery are among the common surgical indications; however, little is known so far about the respective influences on the quality of life. OBJECTIVE: The aim of this study was to compare the subjective influence on the quality of life of patients after open and minimally invasive surgical techniques for recanalization of dacryostenosis. MATERIAL AND METHODS: From the collective of patients who were surgically treated at the University Medical Center Hamburg-Eppendorf from 2015 to 2018, a total of 169 patients (111 dacryocystorhinostomy, DCR, 58 endoscopy) took part in the survey and answered 9 questions about subjective satisfaction, which were evaluated also comparatively. RESULTS: When asked about postoperative satisfaction, the patients were significantly more satisfied after DCR (p = 0.001) than the patients who underwent a lacrimal endoscopy. There was no significant difference in terms of postoperative complications (p = 0.348). The rate of reoperations, however, was significantly higher in the patient group who underwent lacrimal endoscopy (χ2-test, p = 0.004). CONCLUSION: In summary it can be said that DCR is not inferior to lacrimal endoscopy in terms of patient satisfaction.

[Bilateral 4MRGN Pseudomonas aeruginosa-associated choroidal abscesses in cystic fibrosis : Bilateral enucleation of the eyes as a last resort in a life-threatening situation]. / Bilaterale 4MRGN-Pseudomonas-aeruginosa-assoziierte choroidale Abszesse bei Mukoviszidose : Die bilaterale Enucleatio bulbi als Ultima Ratio bei vitaler Bedrohung.

We present a case of bilateral choroidal abscesses due to a multidrug-resistant gram negative (4MRGN) Pseudomonas aeruginosa lung colonization in a patient with cystic fibrosis under immunosuppression after lung transplantation. Bilateral choroidal and subretinal abscesses were detected by funduscopy, ultrasound, magnetic resonance imaging (MRI) and phacovitrectomy and were accompanied by bilateral acute vision loss. The diagnosis was confirmed by intraoperative subretinal biopsy. Due to therapy resistance a bilateral enucleation for life-saving purposes was performed.

[Postoperative care and options for scar treatment in eyelid surgery]. / Postoperative Nachsorge und Möglichkeiten der Narbenbehandlung in der Lidchirurgie.

Oculoplastic surgery places special demands on postoperative care because of the functional importance of the eyelids for the ocular surface. We present an overview of postoperative care after surgical eyelid interventions. All options, limits and the scientific evidence are discussed with a special focus on the treatment of postoperative edema, analgesia, infection prophylaxis and scar treatment.

Genotype-phenotype variability of retinal manifestation in primary hyperoxaluria type 1.

BACKGROUND: Primary hyperoxaluria type 1 (PH1) is a rare congenital metabolic disorder of the glyoxylate pathway, which manifests with nephrocalcinosis, urolithiasis, and end-stage renal failure (ESRD) as well as deposition of oxalate crystals within ocular tissues. This report demonstrates classical ocular features of PH1 of the posterior pole and furthermore highlights the ocular genotype-phenotype variability among siblings with identical compound heterozygous alanine-glyoxylate aminotransferase (AGXT) mutations. MATERIALS AND METHODS: Two siblings, an 8-year-old boy and an 18-year-old girl, with genetically confirmed AGXT mutation (c.364C>T (p.R122X) and c.33dupC), but different renal phenotype underwent an ophthalmic examination, including slit-lamp examination and funduscopy as well as optical coherence tomography (OCT), near-infrared autofluorescence (NIA), and microperimetry examination. RESULTS: The 8-year-old boy presented with a best-corrected visual acuity (BCVA) of 20/630. Fundus examination revealed bilateral, whitish oxalate deposits and prominent fibrotic macular scars. OCT imaging illustrated hyperdense deposits in all retinal layers and the choroid and the vitreous body along with a prominent dome-shaped macular fibrosis. NIA imaging outlined macular retinal pigment epithelium (RPE) atrophy with panretinal hyperreflective material. Bilateral symptomatic epiphora was putatively due to bilateral depositions of palpable nodular oxalate deposits at the level of the lacrimal sac. In contrary, the 18-year-old sister presented without any signs of ocular oxalate deposition and a BCVA of 20/20. CONCLUSIONS: PH1 is potentially accompanied with a considerable decline in visual acuity due to macular scaring and fibrosis, whereas a profound variability of ocular manifestations can be observed in PH1 patients with identical genotypes.

Novel morphological macular findings in juvenile CLN3 disease.

AIMS: Juvenile CLN3 disease, one of the most common forms of a group of lysosomal storage diseases called neuronal ceroid lipofuscinoses (NCLs), is a progressive neurodegenerative disorder with initial visual deterioration. The objective of this study was to analyse the retinal phenotype of patients with CLN3 disease with the help of recent ophthalmic imaging modalities to distinguish CLN3 disease from other inherited retinal dystrophies. METHODS: Patients underwent ophthalmic evaluations, including anterior and posterior segment examinations, optical coherence tomography, fundus autofluorescence, near infrared imaging and fundus photography. Patients were also assessed according to the Hamburg juvenile NCL (JNCL) score. Each ophthalmic finding was assessed by three independent examiners and assigned to a clinical severity score. RESULTS: 22 eyes of 11 patients were included. The mean age at examination was 14.4 years (range 11.8-26.4 years), with an average age at initial diagnosis of 8 years (range 4.5-11 years). The mean Hamburg JNCL score was 7.3 (range 0-13). All patients showed a specific macular striation pattern on optical coherence tomography that was independent of age and progression of the disease. Other previously described retinal features of CLN3 disease were classified into four severity grades. CONCLUSIONS: This study represents the first prospective observational case series documenting retinal abnormalities in CLN3 disease with the aid of the spectral domain optical coherence tomography. The major finding was a characteristic, striated macular pattern in all patients studied. Particularly in early disease cases, macular striae can potentially help to discriminate CLN3 disease from other inherited forms of retinitis pigmentosa.