Adams-Oliver syndrome: a case of bilateral progressive ischemic maculopathy

Adams-Oliver syndrome (AOS) is a congenital condition characterized by aplasia cutis congenita of the scalp and transverse limb defects. Other clinical features reported in association with AOS include cardiac malformations, cutis marmorata telangiectatica congenita, prenatal complications, and ophthalmic abnormalities. Reported ophthalmic manifestations range from Peters anomaly –like findings and cataract formation to incomplete or abnormal retinal vasculature, optic nerve hypoplasia, and rod dystrophy.
Source: Journal of AAPOS - Category: Opthalmology Authors: Tags: Short Report Source Type: research

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Conclusions: Herein, we report the first occurrence of nanophthalmos in the Roma population. We have identified pseudodominant inheritance for this phenotype caused by a novel variant in PRSS56, representing a possible founder effect. Despite advances in genetic technologies such as exome sequencing, careful phenotype evaluation in patients from an isolated population, along with an awareness of population-specific founder effects, is necessary to ensure that accurate molecular diagnoses are made. PMID: 32454992 [PubMed]
Source: Journal of Ophthalmology - Category: Opthalmology Tags: J Ophthalmol Source Type: research
Conclusion: DMEK is a safe and effective procedure in different types of endothelial diseases with encouraging surgical and clinical outcomes. Complications are less and ECL percentage up to 2 years is acceptable.
Source: Indian Journal of Ophthalmology - Category: Opthalmology Authors: Source Type: research
This study compared the outcomes of Descemet ’s membrane endothelial keratoplasty (DMEK) in pseudophakic patients with the outcomes after DMEK combined with cataract surgery (triple-DMEK) in patients with Fuchs endothelial dystrophy (FED).
Source: American Journal of Ophthalmology - Category: Opthalmology Authors: Tags: Original Articles Source Type: research
Conclusion: We introduced a family of FECD with APC, with no known causative gene found by WES, inferring that there may be a novel gene-locus in the non-coding regions of genome, which needs further study by WGS. The contribution of this study was to exclude the possibility of the rare phenotype pathogenic site in exome and narrow the scope of pathogenic genes. PMID: 32367751 [PubMed - as supplied by publisher]
Source: Ophthalmic Genetics - Category: Opthalmology Tags: Ophthalmic Genet Source Type: research
Background: Myotonic dystrophy type 1 (DM1) is an autosomal dominant neuromuscular disease characterized by muscle weakness and multisystemic impairments, which significantly impact the quality of life. There is currently an increasing consensus on the necessity of a multidisciplinary assessment in patients with DM1, to improve the management of the disease.Methods: To analyze the prevalence and pairwise relationships between various organs involved, we performed a retrospective study by reviewing demographic and clinical information of DM1 patients including age, disease duration, clinical history, muscular impairment rat...
Source: Frontiers in Neurology - Category: Neurology Source Type: research
Authors: Onoda H, Imamura T, Ushijima R, Sobajima M, Kinugawa K Abstract We encountered a 42-year-old woman with a history of diabetes mellitus and cataracts presenting with repeated syncope whose electrocardiogram showed advanced atrioventricular block. On admission, we excluded major potential differential diagnoses as causes of an atrioventricular block but did not suspect myotonic dystrophy, which was eventually diagnosed by chance based on a suspected weakness of the respiratory muscles followed by a detailed neurological physical examination. Myotonic dystrophy should be suspected as a differential diagnosis ...
Source: Internal Medicine - Category: Internal Medicine Tags: Intern Med Source Type: research
CONCLUSION: Epithelial downgrowth can occur after Descemet membrane endothelial keratoplasty. The limited progression of epithelial downgrowth in this patient suggests that this condition after Descemet membrane endothelial keratoplasty even in the recurrence stage may cause less damage than expected and may only need to be observed closely if no progression occurs. PMID: 32162534 [PubMed - as supplied by publisher]
Source: European Journal of Ophthalmology - Category: Opthalmology Authors: Tags: Eur J Ophthalmol Source Type: research
ABSTRACT Degenerative retinal diseases such as retinitis pigmentosa, Stargardt ’ s macular dystrophy, and age-related macular degeneration are characterized by irreversible loss of vision due to direct or indirect photoreceptor damage. No effective treatments exist, but stem cell studies have shown promising results. Our aim with this review was to describe the types of stem cells that are under study, their effects, and the main clinical trials involving them.RESUMO As doen ças degenerativas da retina, como retinose pigmentar, distrofia macular de Stargardt e degeneração macular relaciona &agrav...
Source: Arquivos Brasileiros de Oftalmologia - Category: Opthalmology Source Type: research
Purpose: To evaluate the clinical outcomes and endothelial cell density (ECD) after Descemet membrane endothelial keratoplasty using peripherally trephinated donor tissue (DMEK-pD) and compare with DMEK using centrally trephinated donor tissue (DMEK-cD) in patients with Fuchs endothelial corneal dystrophy (FECD). Methods: This was a prospective comparative interventional case series. One hundred twenty-five eyes of 110 patients with FECD and cataract who underwent either DMEK-pD (n = 60) or DMEK-cD (n = 65) combined with phacoemulsification, between June 2016 and November 2018, were included. Preoperative and postoper...
Source: Cornea - Category: Opthalmology Tags: Clinical Science Source Type: research
In this study, we report on successful in vivo measurements of intraocular pressure in rabbits using an optical IOP measurement system. The sensor was implanted during cataract surgery in two New Zealand white (NZW) rabbits and tested in vivo for ten weeks. Prior to implantation, the sensors were characterized in vitro in the physiologically relevant pressure range of 0–60 mmHg. A portable wireless handheld reader consisting of an internal beam splitter, a monochromatic light source, and a digital single-lens reflex (DSLR) camera was also designed and implemented to capture interference patterns from the sensor. The ...
Source: IEEE Transactions on Biomedical Engineering - Category: Biomedical Engineering Source Type: research
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