Therapeutic advances in rare disease最新文献

{"title":"Keratoconus: cross-linking the window of the eye.","authors":"Sally Hayes,&nbsp;Siân R Morgan,&nbsp;Keith M Meek","doi":"10.1177/26330040211003573","DOIUrl":"10.1177/26330040211003573","url":null,"abstract":"<p><p>Keratoconus is a condition in which the cornea progressively thins and weakens, leading to severe, irregular astigmatism and a significant reduction in quality of life. Although the precise cause of keratoconus is still not known, biochemical and structural studies indicate that overactive enzymes within the cornea break down the constituent proteins (collagen and proteoglycans) and cause the tissue to weaken. As the disease develops, collagen fibres slip past each other and are redistributed across the cornea, causing it to change shape. In recent years, it was discovered that the photochemical induction of cross-links within the corneal extracellular matrix, through the use of riboflavin and ultraviolet (UVA) light, could increase the strength and enzymatic resistance of the tissue and thereby halt keratoconus progression. Worldwide acceptance and use of riboflavin/UVA corneal cross-linking therapy for halting keratoconus progression has increased rapidly, in accordance with the growing body of evidence supporting its long-term effectiveness. This review focusses on the inception of riboflavin/UVA corneal cross-linking therapy for keratoconus, its clinical effectiveness and the latest scientific advances aimed at reducing patient treatment time, improving patient comfort and increasing patient eligibility for treatment.</p><p><strong>Plain language summary: </strong><b>Review of current treatments using cross-linking to halt the progress of keratoconus</b> Keratoconus is a disease in which the curved cornea, the transparent window at the front of the eye, weakens, bulges forward into a cone-shape and becomes thinner. This change of curvature means that light is not focussed onto the retina correctly and vision is progressively impaired. Traditionally, the effects of early keratoconus were alleviated by using glasses, specialist contact lenses, rings inserted into the cornea and in severe cases, by performing a corneal transplant. However, it was discovered that by inducing chemical bonds called cross-links within the cornea, the tissue could be strengthened and further thinning and shape changes prevented. The standard cross-linking procedure takes over an hour to perform and involves the removal of the cells at the front of the cornea, followed by the application of Vitamin B2 eye drops and low energy ultraviolet light (UVA) to create new cross-links within the tissue. Clinical trials have shown this standard procedure to be safe and effective at halting keratoconus progression. However, there are many treatment modifications currently under investigation that aim to reduce patient treatment time and increase comfort, such as accelerated cross-linking procedures and protocols that do not require removal of the surface cells. This review describes the different techniques being developed to carry out corneal cross-linking efficiently and painlessly, to halt keratoconus progression and avoid the need for expensive surgery.</p>","PeriodicalId":75218,"journal":{"name":"Therapeutic advances in rare disease","volume":"2 ","pages":"26330040211003573"},"PeriodicalIF":0.0,"publicationDate":"2021-03-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1177/26330040211003573","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10296940","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Novel therapeutics in nystagmus: what has the genetics taught us so far?","authors":"Jay E Self,&nbsp;Helena Lee","doi":"10.1177/2633004021998714","DOIUrl":"10.1177/2633004021998714","url":null,"abstract":"<p><p>Nystagmus is a disorder characterised by uncontrolled, repetitive, to-and-fro movement of the eyes. It can occur as a seemingly isolated disorder but is most commonly the first, or most obvious, feature in a host of ophthalmic and systemic disorders. The number of underlying causes is vast, and recent improvements in the provision of genetic testing have shown that many conditions can include nystagmus as a feature, but that phenotypes overlap significantly. Therefore, an increase in the understanding of the genetic causes of nystagmus has shown that successful novel therapeutics for 'nystagmus' can target either specific underlying disorders and mechanisms (aiming to treat the underlying condition as a whole), or a final common pathway (aiming to treat the nystagmus directly).</p><p><strong>Plain language summary: </strong><b>Novel treatments for a disorder of eye movement (nystagmus): what has the genetics taught us so far?</b> Nystagmus is a disorder of eye movement characterised by uncontrolled, to-and-fro movements. It can occur as an isolated disorder, in conditions affecting other parts of the eye, in conditions affecting multiple other parts of the body or secondary to neurological diseases (brain diseases). In recent years, advances in genetic testing methods and increase in genetic testing in healthcare systems have provided a greater understanding of the underlying causes of nystagmus. They have highlighted the bewildering number of genetic causes that can result in what looks like a very similar eye movement disorder.In recent years, new classes of drugs have been developed for some of the causes of nystagmus, and some new drugs have been developed for other conditions which have the potential to work in certain types of nystagmus. For these reasons, genetics has taught us that identifying new possible treatments for nystagmus can either be dependent on identifying the underlying genetic cause and aiming to treat that, or aiming to treat the nystagmus <i>per se</i> by targeting a final common pathway. A toolkit based on specific treatments for specific conditions is more to have meaningful impact on 'nystagmus' than pursuing a panacea based on a 'one size fits all' approach.</p>","PeriodicalId":75218,"journal":{"name":"Therapeutic advances in rare disease","volume":"2 ","pages":"2633004021998714"},"PeriodicalIF":0.0,"publicationDate":"2021-03-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1177/2633004021998714","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9766518","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Animal and cellular models of microphthalmia.","authors":"Philippa Harding,&nbsp;Dulce Lima Cunha,&nbsp;Mariya Moosajee","doi":"10.1177/2633004021997447","DOIUrl":"10.1177/2633004021997447","url":null,"abstract":"<p><p>Microphthalmia is a rare developmental eye disorder affecting 1 in 7000 births. It is defined as a small (axial length ⩾2 standard deviations below the age-adjusted mean) underdeveloped eye, caused by disruption of ocular development through genetic or environmental factors in the first trimester of pregnancy. Clinical phenotypic heterogeneity exists amongst patients with varying levels of severity, and associated ocular and systemic features. Up to 11% of blind children are reported to have microphthalmia, yet currently no treatments are available. By identifying the aetiology of microphthalmia and understanding how the mechanisms of eye development are disrupted, we can gain a better understanding of the pathogenesis. Animal models, mainly mouse, zebrafish and <i>Xenopus</i>, have provided extensive information on the genetic regulation of oculogenesis, and how perturbation of these pathways leads to microphthalmia. However, differences exist between species, hence cellular models, such as patient-derived induced pluripotent stem cell (iPSC) optic vesicles, are now being used to provide greater insights into the human disease process. Progress in 3D cellular modelling techniques has enhanced the ability of researchers to study interactions of different cell types during eye development. Through improved molecular knowledge of microphthalmia, preventative or postnatal therapies may be developed, together with establishing genotype-phenotype correlations in order to provide patients with the appropriate prognosis, multidisciplinary care and informed genetic counselling. This review summarises some key discoveries from animal and cellular models of microphthalmia and discusses how innovative new models can be used to further our understanding in the future.</p><p><strong>Plain language summary: </strong><b>Animal and Cellular Models of the Eye Disorder, Microphthalmia (Small Eye)</b> Microphthalmia, meaning a small, underdeveloped eye, is a rare disorder that children are born with. Genetic changes or variations in the environment during the first 3 months of pregnancy can disrupt early development of the eye, resulting in microphthalmia. Up to 11% of blind children have microphthalmia, yet currently no treatments are available. By understanding the genes necessary for eye development, we can determine how disruption by genetic changes or environmental factors can cause this condition. This helps us understand why microphthalmia occurs, and ensure patients are provided with the appropriate clinical care and genetic counselling advice. Additionally, by understanding the causes of microphthalmia, researchers can develop treatments to prevent or reduce the severity of this condition. Animal models, particularly mice, zebrafish and frogs, which can also develop small eyes due to the same genetic/environmental changes, have helped us understand the genes which are important for eye development and can cause birth eye defects when disrupted. Study","PeriodicalId":75218,"journal":{"name":"Therapeutic advances in rare disease","volume":"2 ","pages":"2633004021997447"},"PeriodicalIF":0.0,"publicationDate":"2021-02-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1177/2633004021997447","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10290143","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Understanding the perspective of patients with pulmonary arterial hypertension: looking beyond health-related quality of life.","authors":"Aldo Aguirre-Camacho","doi":"10.1177/2633004020986166","DOIUrl":"10.1177/2633004020986166","url":null,"abstract":"","PeriodicalId":75218,"journal":{"name":"Therapeutic advances in rare disease","volume":"2 ","pages":"2633004020986166"},"PeriodicalIF":0.0,"publicationDate":"2021-02-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1177/2633004020986166","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9839553","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Therapeutic and diagnostic advances in Stickler syndrome.","authors":"Martin Snead,&nbsp;Howard Martin,&nbsp;Peter Bale,&nbsp;Nick Shenker,&nbsp;David Baguley,&nbsp;Philip Alexander,&nbsp;Annie McNinch,&nbsp;Arabella Poulson","doi":"10.1177/2633004020978661","DOIUrl":"10.1177/2633004020978661","url":null,"abstract":"<p><p>The Stickler syndromes are the leading cause of inherited retinal detachment and the most common cause of rhegmatogenous retinal detachment in childhood. The clinical and molecular genetic spectrum of this connective tissue disorder is discussed in this article, emphasising the key role the ophthalmologist has to play in the identification, diagnosis and prevention of blindness in the increasingly widely recognised sub-groups with ocular-only (or minimal systemic) involvement. Without diagnosis and prophylaxis in such high-risk subgroups, these patients are at high risk of Giant Retinal Tear detachment and blindness, especially in the paediatric population, where late or second eye involvement is common. Initially considered a monogenic disorder, there are now known to be at least 11 distinct phenotypic subgroups in addition to allied connective tissue disorders that can present to the clinician as part of the differential diagnosis.</p><p><strong>Plain language summary: </strong><b>Treatment and diagnostic advances in Stickler syndrome</b> The Stickler syndromes are a group of related connective tissue disorders that are associated with short-sight and a very high risk of blindness from detachment of the retina - the light sensitive film at the back of the eye. Other features include cleft palate, deafness and premature arthritis. It is the most common cause of retinal detachment in children and the most common cause of familial or inherited retinal detachment. In contrast to most other forms of blinding genetic eye disease, blindness from retinal detachment in Stickler syndrome is largely avoidable with accurate diagnosis and prophylactic (preventive) surgery. Recent advances in the understanding of the genetic causes of Stickler syndrome mean that the diagnosis can now be confirmed in over 95% of cases and, most importantly, the patient's individual risk of retinal detachment can be graded. Preventative surgery is hugely effective in reducing the incidence of retinal detachment in those patients shown to be at high risk. NHS England have led the way in the multidisciplinary care for patients with Stickler syndrome by launching a highly specialist service that has been free at point of care to all NHS patients in England since 2011 (https://www.england.nhs.uk/commissioning/spec-services/highly-spec-services, www.vitreoretinalservice.org).</p>","PeriodicalId":75218,"journal":{"name":"Therapeutic advances in rare disease","volume":"1 ","pages":"2633004020978661"},"PeriodicalIF":0.0,"publicationDate":"2020-12-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1177/2633004020978661","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9839021","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Conservative management of a fourth ventricular epidermoid in a patient with Gardner syndrome.","authors":"Gordon D Heller","doi":"10.1177/2633004020969702","DOIUrl":"10.1177/2633004020969702","url":null,"abstract":"<p><p>Gardner Syndrome is a rare disease with clinical manifestations of familial intestinal polyposis with osteomas. Cutaneous and subcutaneous lesions are common and epidermoid cyst is a characteristic dermatologic finding. This case report presents a novel finding of an intracranial epidermoid situated in the fourth ventricle in a patient with Gardner Syndrome. This intracranial epidermoid has been followed with sequential magnetic resonance imaging (MRI) for 10 years with progressive growth of the lesion. This suggests the conservative management is an option in patients with an enlarging epidermoid cyst in the fourth ventricle.</p><p><strong>Plain language summary: </strong><b>Non-operative treatment of a cyst in the brain in a syndrome called Gardner syndrome.</b> <b>What is Gardner syndrome?</b> Gardner syndrome is a rare disease and form of familial adenomatous polyposis (FAP) that is characterized by multiple small growths of cells (polyps) in the colon and various types of tumors, both noncancerous (benign) and cancerous (malignant). It is caused by changes (mutations) in the APC gene. Abnormal changes on the skin and under the skin are common as well as growths called epidermoid cysts. The cysts develop when cells that are meant to become skin, hair, and nails (epithelial cells) are trapped among the cells that form the brain. Epidermoid brain cysts may be diagnosed by magnetic resonance imaging (MRI) and computerized tomography (CT) scans. Typical treatment usually involves surgery. <b>What was the aim of this case report?</b> To present a different management strategy for patients with Gardner Syndrome with epidermoid brain cysts. <b>How was this patient treated?</b> This patient is the first patient with Gardner Syndrome with a very rare epidermoid brain cyst reported to be treated in a conservative manner.The patient was monitored for 10 years with regular MRI scans and the cyst continued to grow over this time.Despite this growth the patient has shown no signs of a buildup of fluid in the cavities deep within the brain (called hydrocephalus).The patient experienced nonfocal headaches, which were relieved with medication so doctors decided not to surgically remove the cyst. <b>Why is this case important?</b> Conservative management of epidermoid brain cysts in Gardner patients has not been reported before. This case report shows that conservative management may be an alternative option for patients with a growing epidermoid cyst in the fourth ventricle of the brain. Conservative treatment is designed to avoid invasive treatments or surgery and provides a different option for patients who are unable to have surgery.</p>","PeriodicalId":75218,"journal":{"name":"Therapeutic advances in rare disease","volume":"1 ","pages":"2633004020969702"},"PeriodicalIF":0.0,"publicationDate":"2020-10-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1177/2633004020969702","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9822297","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A review of the treatment landscape in paroxysmal nocturnal haemoglobinuria: where are we now and where are we going?","authors":"Morag Griffin, Richard Kelly, Alexandra Pike","doi":"10.1177/2633004020959349","DOIUrl":"10.1177/2633004020959349","url":null,"abstract":"&lt;p&gt;&lt;p&gt;Paroxysmal nocturnal haemoglobinuria (PNH) is an ultra-orphan disease, which until 15 years ago had limited treatment options. Eculizumab, a monoclonal antibody that inhibits C5 in the terminal complement cascade, has revolutionised treatment for this disease, near normalising life expectancy and improving quality of life for patients. The treatment landscape of PNH is now evolving, with ravulizumab a second longer acting intravenous C5 inhibitor now licenced by the FDA and EMA. With different therapeutic targets in the complement cascade and difference modalities of treatment, including subcutaneous, oral and intravenous therapies being developed, increasing independence for patients and reducing healthcare requirements. This review discusses the current and future therapies for PNH.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Lay summary: &lt;/strong&gt;&lt;b&gt;Review of current and future treatments for patients with Paroxysmal Nocturnal Haemoglobinuria&lt;/b&gt; &lt;b&gt;What is Paroxysmal Nocturnal Haemoglobinuria?&lt;/b&gt; Paroxysmal nocturnal haemoglobinuria (PNH) is a very rare disease. It arises from PNH stem cells in the bone marrow. In a normal bone marrow these are inactive; however, if there has been a problem in the bone marrow, the PNH stem cells can expand and make PNH red blood cells, white blood cells and platelets. The problem with these cells is that they lack the cell surface markers that usually protect them. Red blood cells are broken down in the circulation rather than the spleen, which gives rise to PNH symptoms such as abdominal pain, difficulty swallowing, erectile dysfunction and red or black urine (known as haemoglobinuria). The white blood cells and platelets are 'stickier' increasing the risk of blood clots. Previously life expectancy was reduced as there were limited treatment options available. &lt;b&gt;What was the aim of this review?&lt;/b&gt; To provide an overview of current and future treatment options for PNH &lt;b&gt;Which treatments are available?&lt;/b&gt; • Eculizumab is an treatment given through a vein (intravenous) every week for 5 weeks then every 2 weeks after this, and has been available for 13 years, improving life expectancy to near normal.• Ravulizumab is a newer intravenous treatment similar to eculizumab but is given every 8 weeks instead of every 2 weeks. In clinical studies it was comparable with eculizumab.• Future Treatments - There is new research looking at different methods of treatment delivery, including injections under the skin (subcutaneous) that patients can give themselves, treatments taken by mouth (oral) or a combination of an intravenous and oral treatment for those patients who are not optimally controlled on eculizumab or ravulizumab. &lt;b&gt;What does this mean?&lt;/b&gt; PNH is now treatable. For years, the only drug available was eculizumab, but now different targets and drug trials are available. Ravulizumab is currently the only second licenced product available, in USA and Europe, there are other medications active in clinical trials. &lt;b&gt;Why is this impo","PeriodicalId":75218,"journal":{"name":"Therapeutic advances in rare disease","volume":"1 ","pages":"2633004020959349"},"PeriodicalIF":0.0,"publicationDate":"2020-10-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/c1/36/10.1177_2633004020959349.PMC10032435.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9822300","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Role of red free imaging, retinal reflectance and fundus autofluorescence in Bietti crystalline dystrophy: case report.","authors":"Abhidnya Surve,&nbsp;Akshaya Balaji,&nbsp;Shorya Vardhan Azad,&nbsp;Vinod Kumar,&nbsp;Rajpal Vohra,&nbsp;Pradeep Venkatesh","doi":"10.1177/2633004020958013","DOIUrl":"10.1177/2633004020958013","url":null,"abstract":"<p><p>Bietti crystalline dystrophy (BCD), a rare autosomal recessive hereditary disorder, is identified by its clinical features. It is characterised by crystalline deposits and hence called crystalline retinopathy. The retinopathy progresses with age, showing a decrease in the number of crystalline deposits and increase in the area of chorioretinal degeneration, which spreads in a centrifugal pattern. Thus, BCD can be confused with other disorders with crystalline-like deposits and chorioretinal degenerations. The red-free and near-infrared reflectance allows prominent visualisation of crystalline deposits that may be missed. The non-inferiority of red-free imaging and its wider availability could allow its use as a screening tool. The enhanced depth imaging optical coherence tomography shows crystalline deposits throughout the retina and outer retinal tubulation. Thus, multimodality imaging can act as an adjunct in diagnosis, monitoring and follow up in these cases, acting not only as a teaching tool but also giving an insight into the underlying pathophysiology of the disorder.</p><p><strong>Plain language summary: </strong><b>Use of imaging in diagnosis of Bietti crystalline dystrophy</b> Bietti crystalline dystrophy is a rare familial disorder but is not shown in all family members and may skip generations, as it has an autosomal recessive pattern of inheritance. It shows refractile yellow-white crystalline deposits and degenerative changes in the retina. These crystalline deposits disappear with age while degenerative changes increase and spread from centre to the periphery. This may cause difficulty in early detection, and confusion with similar degenerative diseases of the retina. The use of various imaging modalities can help in diagnosis and follow up of these cases. These modalities also provide understanding of the basic disease process.</p>","PeriodicalId":75218,"journal":{"name":"Therapeutic advances in rare disease","volume":"1 ","pages":"2633004020958013"},"PeriodicalIF":0.0,"publicationDate":"2020-10-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1177/2633004020958013","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9822298","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Congenital cataract: a guide to genetic and clinical management.","authors":"Suzannah J Bell, Ngozi Oluonye, Philippa Harding, Mariya Moosajee","doi":"10.1177/2633004020938061","DOIUrl":"10.1177/2633004020938061","url":null,"abstract":"&lt;p&gt;&lt;p&gt;Worldwide 20,000-40,000 children with congenital or childhood cataract are born every year with varying degrees and patterns of lens opacification with a broad aetiology. In most cases of bilateral cataract, a causative genetic mutation can be identified, with autosomal dominant inheritance being most common in 44% of cases. Variants in genes involve lens-specific proteins or those that regulate eye development, thus giving rise to other associated ocular abnormalities. Approximately 15% of cases have systemic features, hence paediatric input is essential to minimise comorbidities and support overall development of children at high risk of visual impairment. In some metabolic conditions, congenital cataract may be the presenting sign, and therefore prompt diagnosis is important where there is an available treatment. Multidisciplinary management of children is essential, including ophthalmic surgeons, orthoptists, paediatricians, geneticists and genetic counsellors, and should extend beyond the medical team to include school and local paediatric visual support services. Early surgery and close follow up in ophthalmology is important to optimise visual potential and prevent amblyopia. Routine genetic testing is essential for the complete clinical management of patients, with next-generation sequencing of 115 genes shown to expedite molecular diagnosis, streamline care pathways and inform genetic counselling and reproductive options for the future.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Lay abstract: &lt;/strong&gt;&lt;b&gt;Childhood cataract: how to manage patients&lt;/b&gt; Cataract is a clouding of the lens in the eye. Cataract occurring in children has many different causes, which may include infections passed from mother to child during pregnancy, trauma, medications and exposure to radiation. In most cases of cataract occurring in both eyes, a genetic cause can be found which may be inherited from parents or occur sporadically in the developing baby itself while in the womb. Cataracts may occur on their own, with other eye conditions or be present with other disorders in the body as part of a syndrome. Genetic testing is important for all children with cataract as it can provide valuable information about cause, inheritance and risk to further children and signpost any other features of the disease in the rest of the body, permitting the assembly of the correct multidisciplinary care team. Genetic testing currently involves screening for mutations in 115 genes already known to cause cataract and has been shown to expedite diagnosis and help better manage children. Genetic counselling services can support families in understanding their diagnosis and inform future family planning. In order to optimise vision, early surgery for cataract in children is important. This is because the brain is still developing and an unobstructed pathway for light to reach the back of the eye is required for normal visual development. Any obstruction (such as cataract) if left untreated may lead to pe","PeriodicalId":75218,"journal":{"name":"Therapeutic advances in rare disease","volume":"1 ","pages":"2633004020938061"},"PeriodicalIF":0.0,"publicationDate":"2020-07-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10032449/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10645351","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Introducing Therapeutic Advances in Rare Disease.","authors":"Samantha Taylor","doi":"10.1177/2633004020902860","DOIUrl":"10.1177/2633004020902860","url":null,"abstract":"","PeriodicalId":75218,"journal":{"name":"Therapeutic advances in rare disease","volume":"1 ","pages":"2633004020902860"},"PeriodicalIF":0.0,"publicationDate":"2020-01-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1177/2633004020902860","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9832896","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}