macular atrophy
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2021 ◽  
pp. 1-5
Author(s):  
Manuel Paez-Escamilla ◽  
Hannah L. Scanga ◽  
Alkiviades Liasis ◽  
Ken K. Nischal

2021 ◽  
Author(s):  
Styliani Blazaki ◽  
Emmanouil Blavakis ◽  
Georgios Smoustopoulos ◽  
Georgios Bontzos ◽  
Anastasios Stavrakakis ◽  
...  

Purpose To evaluate the progression of macular atrophy (MA) based on near-infrared reflectance (NIR) and optical coherence tomography (OCT) images, in patients with age-related macular degeneration (AMD), receiving anti-vascular endothelial growth factor (anti-VEGF) treatment for at least a 6-year period. Materials and Methods This retrospective study included 53 naïve patients (53 eyes) with neovascular AMD from two centers, who were treated with anti-VEGF intravitreal injections and had no MA at baseline. MA was evaluated in an annual basis using NIR images, while all available OCT images were used to confirm that the atrophic area fulfilled the criteria proposed by the Classification of Atrophy Meetings (CAM) group for complete retinal pigment epithelium RPE and outer retinal atrophy (cRORA). Incidence and progression of MA were evaluated. Associations with best-corrected visual acuity (BCVA) and total number of injections were also studied. Results Treatment duration of our patients was 7.34 ± 1.54 years. The mean number of anti-VEGF injections was 24.4 ± 13.6. BCVA at baseline was 0.38 ± 0.27 logMAR while at final visit it was 0.60 ± 0.35 logMAR (p=0.731). The cumulative incidence of new MA at years 1, 2, 3, 4, 5, and 6 was 1.89%, 18.87% 32.08%, 39.62%, 49.06% and 50.94% respectively. In patients who developed MA, mean MA area increased from zero at baseline to 5.66 ± 7.18 mm2 at final visit. The estimated annual enlargement of MA was 0.45 mm/year based on square root transformation (1.12 mm2/year, untransformed data). MA progression does not appear to be significantly associated with age (R=0.055; p=0.784), gender (R=0.113; p=0.576), BCVA (R=0.168; p=0.404) and total number of injections (R=0.133; p=0.255). Conclusion In this real-life setting, half of neovascular AMD patients under anti-VEGF treatment, without MA at therapy initiation, developed MA over a period of at least 6 years. In this work, the number of injections did not seem to have a significant association with MA progression.


Genes ◽  
2021 ◽  
Vol 12 (11) ◽  
pp. 1816
Author(s):  
Bohdan Kousal ◽  
Lucia Hlavata ◽  
Hana Vlaskova ◽  
Lenka Dvorakova ◽  
Michaela Brichova ◽  
...  

The aim of this study was to identify RS1 pathogenic variants in Czech patients with X-linked retinoschisis (XLRS) and to describe the associated phenotypes, including natural history, in some cases. Twenty-one affected males from 17 families were included. The coding region of RS1 was directly sequenced and segregation of the identified mutations was performed in available family members. In total, 12 disease-causing variants within RS1 were identified; of these c.20del, c.275G>A, c.[375_379del; 386A>T], c.539C>A and c.575_576insT were novel, all predicted to be null alleles. The c.539C>A mutation occurred de novo. Three patients (aged 8, 11 and 19 years) were misdiagnosed as having intermediate uveitis and treated with systemic steroids. Repeat spectral domain optical coherence tomography examinations in four eyes documented the transition from cystoid macular lesions to macular atrophy in the fourth decade of life. Four individuals were treated with topical dorzolamide and in two of them, complete resolution of the cystic macular lesions bilaterally was achieved, while one patient was noncompliant. Rebound phenomenon after discontinuation of dorzolamide for 7 days was documented in one case. Misdiagnosis of XLRS for uveitis is not uncommon; therefore, identification of disease-causing variants is of considerable benefit to the affected individuals.


2021 ◽  
Vol 10 (13) ◽  
pp. 5
Author(s):  
Pierre-Henry Gabrielle ◽  
Vuong Nguyen ◽  
Jennifer J. Arnold ◽  
Sanjeeb Bhandari ◽  
Francesco Viola ◽  
...  

2021 ◽  
Author(s):  
Alexander Foss ◽  
Tryfon Rotsos ◽  
Theo Empeslidis ◽  
Victor Chong

Age-related macular degeneration (AMD) is a leading cause of blindness. Late AMD can be classified into exudative (commonly known as wet AMD [wAMD]) or dry AMD, both of which may progress to macular atrophy (MA). MA causes irreversible vision loss and currently has no approved pharmacological treatment. The standard of care for wAMD is treatment with anti-vascular endothelial growth factors (VEGF). However, recent evidence suggests that anti-VEGF treatment may play a role in the development of MA. Therefore, it is important to identify risk factors for the development of MA in patients with wAMD. For example, excessive blockade of VEGF through intense use of anti-VEGF agents may accelerate the development of MA. Patients with type III macular neovascularisation (retinal angiomatous proliferation) have a particularly high risk of MA. These patients are characterised as having a pre-existing thin choroid (age-related choroidopathy), suggesting that the choroidal circulation is unable to respond to increased VEGF expression. Evidence suggests that subretinal fluid (possibly indicative of residual VEGF activity) may play a protective role. Patients receiving anti-VEGF agents must be assessed for overall risk of MA and there is an unmet medical need to prevent the development of MA without undertreating wAMD.


2021 ◽  
pp. bjophthalmol-2021-319668
Author(s):  
Sainan Xiao ◽  
Wenmin Sun ◽  
Xueshan Xiao ◽  
Shiqiang Li ◽  
Hualei Luo ◽  
...  

Background/aimsX-linked retinoschisis (XLRS), associated with RS1, is the most common type of X-linked retinopathy in children. This study aimed to identify clinical and genetic features of retinoschisis in 120 families with RS1 variants in China.MethodsRS1 variants were collected from our in-house exome data and were predicted by multiple-step bioinformatics analysis. Clinical data of 122 patients from 120 families with potential pathogenic RS1 variants were analysed and summarised, respectively.ResultTotally, 79 hemizygous variants (53 missense, 25 truncation and 1 indel), were detected. All except one (78/79, 98.7%), including 22 novels, were classified as potential pathogenic and detected exclusively in 120 families with retinoschisis. Clinical data demonstrated an average age of presentation at 5 years (1 month–41 years). Macular changes were classified as macular schisis (87.5%), macular atrophy (10.7%), normal (0.9%) and unclassified (0.9%). Patients with macular atrophy had older age but similar visual acuity compared with macular schisis. Peripheral retinal changes included flat retinoschisis (52.4%), bullous retinoschisis (BRS) (10.7%) and normal-like (36.9%) patients. Spontaneous regression was observed in two patients with BRS on follow-up examination. Visual acuity in the peripheral retinoschisis group was worse than that without peripheral retinoschisis.ConclusionAlmost all rare RS1 variants were potential pathogenic. All patients with RS1 pathogenic variants showed detectable characteristics in the macula and/or peripheral retina. Our data on RS1 variants and associated clinical phenotypes may be of value for clinical diagnosis and genetic test of retinoschisis.


Author(s):  
Enrico Borrelli ◽  
Chiara La Morgia ◽  
Giuseppe Querques

Ophthalmology ◽  
2021 ◽  
Vol 128 (9) ◽  
pp. 1275
Author(s):  
Mariano Cozzi ◽  
Matteo Airaldi ◽  
Alessandro Invernizzi

2021 ◽  
Vol 12 (e) ◽  
pp. e45-e45
Author(s):  
Reena K. Sharma ◽  
Mudita Gupta ◽  
Lalita Negi ◽  
Samriti Sood

Spontaneous atrophic scarring of face is characterized by an idiopathic, non-inflammatory macular atrophy that typically occurs on the face. It usually occurs spontaneously over the face of children or young adults. The shallow atrophic scars have sharp margins and may be linear, rectangular or varioliform. Inheritance is usually autosomal dominant. The condition seems common, however less reported in literature. We are reporting a case of superficial linear, bilateral atrophoderma over face (perioral region) in a 36 years female, giving a purse string appearance.


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