Clinical characteristics of gyrate atrophy compared with a gyrate atrophy-like retinal phenotype.

INTRODUCTION: Gyrate atrophy (GA) is a rare retinal dystrophy due to biallelic pathogenic variants in the ornithine aminotransferase (OAT) gene, causing a 10-fold increase in plasma ornithine levels. It is characterized by circular patches of chorioretinal atrophy. However, a GA-like retinal phenotype (GALRP) without elevated ornithine levels has also been reported. The aim of this study is to compare the clinical characteristics of GA and GALRP and to identify possible discriminators. METHODS: A multicenter, retrospective chart review was performed at three German referral centres on patient records between 01/01/2009 and 31/12/2021. Records were screened for patients affected by GA or GALRP. Only patients with examination results for plasma ornithine levels and / or genetic testing of the OAT gene were included. Further clinical data was gathered where available. RESULTS: Ten patients (5 female) were included in the analysis. Three suffered from GA, while seven had a GALRP. Mean age (± SD) at onset of symptoms was 12.3 (± 3.5) years for GA compared with 46.7 (± 14.0) years for GALRP patients (p = 0.002). Mean degree of myopia was higher in GA (-8.0 dpt. ± 3.6) compared to GALRP patients (-3.8 dpt. ± 4.8, p = 0.04). Interestingly, all GA patients showed macular oedema, while only one GALRP patient did. Only one patient with GALRP had a positive family history, while two were immunosuppressed. DISCUSSION: Age of onset, refraction and presence of macular cystoid cavities appear to be discriminators between GA and GALRP. GALRP may encompass both genetic and non-genetic subtypes.

[Photodynamic therapy in Germany-Quo vadis?] / Photodynamische Therapie in Deutschland ­ Quo vadis?

BACKGROUND: Photodynamic therapy (PDT) was originally approved for the treatment of neovascular age-related macular degeneration (nAMD) and secondary choroidal neovascularization in myopia (mCNV). In addition, it is used as an off-label treatment in patients with choroidal hemangioma, polypoidal choroidal vasculopathy (PCV), and central serous chorioretinopathy (CSC). OBJECTIVE: To track the development of PDT treatment numbers in Germany between 2006 and 2021 and to investigate the composition of the therapeutic indications. METHODS: In this retrospective study the quality reports of German hospitals were evaluated in the period from 2006 to 2019 and the number of PDTs performed was recorded. In addition, the range of indications for PDT was determined exemplarily for the Eye Center at Medical Center, University of Freiburg and the Eye Center at St. Franziskus Hospital in Münster between 2006 and 2021. Finally, the estimated prevalence of CSC and an estimate of cases requiring treatment were used to calculate the number of patients in need of PDT treatment in Germany. RESULTS: The number of PDTs performed in Germany decreased from 1072 in 2006 to 202 in 2019. While PDT was used in 86% of cases in patients with nAMD and in 7% of cases with mCNV in 2006, it was mainly performed in patients with CSC (70%) and choroidal hemangiomas (21%) from 2016 to 2021. With an estimated incidence of CSC of 1:10,000 and assuming that 16% of patients develop chronic CCS requiring treatment, approximately 1330 PDTs would need to be performed per year in Germany for patients with newly diagnosed chronic CSC alone. CONCLUSION: The decreasing numbers of PDT treatment performed in Germany is mainly due to a change to intravitreal injections as the preferred treatment for nAMD and mCNV. As PDT is currently the recommended treatment of choice for chronic CSC, an underprovision of PDT in Germany can be assumed. To enable an appropriate treatment for patients, a reliable verteporfin production, a simplified approval process by health insurance companies and a close cooperation between ophthalmologists in private practice and larger centers are urgently needed.

[Fluorescein, indocyanine green and optical coherence tomography angiography in patients with native exudative age-related macular degeneration]. / Fluoreszein­, Indocyaningrün- und optische Kohärenztomographie-Angiographie bei Patienten mit nativer exsudativer altersabhängiger Makuladegeneration.

INTRODUCTION: The newly developed optical coherence tomography angiography (OCT-A) has provided new means to depict the vascular plexus in neovascular age-related macular degeneration (nAMD). If these images are to be used as a basis for therapeutic decisions, it is of vital importance to classify choroidal neovascularization (CNV) as either classical or occult. This study aimed at comparing the findings in OCT-A imaging of CNV with the traditional multimodal imaging through fluorescein angiography (FLA) and indocyanine green angiography (ICGA). METHODS: For this investigation 13 eyes from 13 patients with CNV on the basis of untreated nAMD were studied using FLA, ICGA, spectral domain OCT and OCT-A. All CNV were classified on the basis of SD-OCT and OCT-A images by two independent raters. Thereafter FLA and ICGA images were analyzed to set the gold standard for the classification and the ratings were compared to the previous SD-OCT and OCT-A results. RESULTS: 88% of eyes were correctly classified as either classical or occult CNV on the basis of SD-OCT and OCT-A images. Based on the CNV subgroups, 93% of classical CNV were identified using OCT-A images. In contrast occult CNV was correctly classified in 83% of patients. The interrater agreement was 77%. In general it was noted that the more the retina was pathologically altered, e. g. by edema or vascular pigment epithelium detachment, the harder it became to correctly classify the CNV. DISCUSSION: These results show that OCT-A can be used as an interesting addition in the diagnosis of CNV in nAMD. All CNV could be visualized using OCT-A and especially classical CNV could be clearly recognized in most cases. In contrast occult CNV could be identified in slightly fewer cases.