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Inherited Optic Neuropathies
Published in Vivek Lal, A Clinical Approach to Neuro-Ophthalmic Disorders, 2023
Hui-Chen Cheng, Jared Ching, An-Guor Wang, Patrick Yu-Wai-Man
Wolfram syndrome was originally described as an autosomal recessive disorder characterized by diabetes insipidus (DI), diabetes mellitus (DM), OA and deafness (DIDMOAD syndrome) in addition to other more variable manifestations, such as renal failure and psychiatric disturbances (28, 29). It is a relatively rare disorder with prevalence figures ranging from 1 in 500,000 to 1 in 770,000 depending on the population studied (30, 31).
Type 1A Diabetes as an Immunological Disorder
Published in Jack L. Leahy, Nathaniel G. Clark, William T. Cefalu, Medical Management of Diabetes Mellitus, 2000
Elizabeth Stephens, George S. Eisenbarth
Other rare forms of diabetes need to be considered when evaluating a patient with diabetes, especially patients who are anti-islet autoantibody-negative. These include Wolfram syndrome, which is a gradually progressive neurodegenerative disorder, with a nonautoimmune loss of beta cells, and diabetes caused by mitochondrial DNA mutations that are firequendy associated with deafness.
A novel WFS1 variant associated with severe diabetic retinopathy in Wolfram syndrome type 1
Published in Ophthalmic Genetics, 2023
Rym Maamouri, Syrine Hizem, Ines Kammoun, Yasmina Elaribi, Imen Rejeb, Molka Sebai, Houweyda Jilani, Cécile Rouzier, Monia Cheour, Véronique Paquis-Flucklinger, Lamia Ben Jemaa
This case highlights the importance of an early diagnosis of Wolfram syndrome in children with diabetes. Increased awareness of WS among all physicians, in particular endocrinologists and ophthalmologists, is crucial to contribute to a better understanding of diabetes mellitus management, in order to prevent hypoglycemia and diabetic retinopathy, which is critical to avoid peripheral laser in patients with already central scotoma due to their optic neuritis. The molecular study of the WFS1 gene is essential for the diagnostic confirmation, in order to provide an appropriate genetic counseling and a mutational screening in the at-risk relatives. The c.1901A>T (p.Lys634Met) is a novel variant that could be responsible for a severe form of WS with early diabetic retinopathy; however, functional study is needed to confirm its effect on the clinical course of the disease.
Wolfram syndrome with vitelliform retinal deposits
Published in Ophthalmic Genetics, 2022
Sina J. Sabet, Andrew R. Carey
Wolfram syndrome is a rare autosomal recessive genetic disorder first characterized in 1938 by Wolfram and Wagener (1) in a report of 4 siblings. It is a relatively rare condition with a prevalence of one per 770,000 (2). It is often associated with the acronym DIDMOAD, standing for childhood-onset Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness. Other ocular and systemic manifestations may also be present, including neurologic issues such as cerebellar ataxia, peripheral neuropathy, loss of gag reflex, myoclonus, mental retardation, seizures, and dementia (3); psychiatric issues such as anxiety, depression, psychosis, and aggression (4); and genitourinary problems such as incontinence (1) secondary to neurogenic bladder and other urinary tract or bladder abnormalities (5). Death most often occurs from aspiration or respiratory failure due to neurodegeneration of the brainstem.
Designation of orphan conditions in Europe: regulatory observations and considerations after implementation of regulation 141/2000
Published in Expert Opinion on Orphan Drugs, 2020
Segundo Mariz, Kerstin Westermark, Bruno Sepodes
Prevalence of a condition does not appear to be the limiting factor regarding clustering for example in Hemophilia B which has a prevalence below 1 in 10,000 (which some would call an ultra-rare condition) has 18 designations (as of the 16th of August 2019). However low Public awareness linked to low prevalence could however be associated with lower submissions and positive opinions [9]. To illustrate this point, we have highlighted some conditions which have been designated by the COMP for which few additional positive designations have occurred. Adrenoleukodystrophy a metabolic disorder with a prevalence of 0.4 in 10,000 in Europe and first designated in 2012 has had 3 more designations to date. Wolfram Syndrome another very rare metabolic condition with a prevalence in Europe estimated to be 0.2 in 10,000 had its initial designation in 2015 and only one additional designation. Aicardi-Goutieres Syndrome (prevalence reported to be 1 in 10,000) where one center in Europe has submitted two products at the same time for designation in 2015 has had no further submissions. What the limiting factor here is difficult to establish as it can be linked to factors such as limited number of centers working on the condition or limited understanding of the underlying etiology and pathophysiology or limited patient organization interaction [10]. Although a crude measure designation clustering around a new condition can offer some perception into the interest, awareness and trends regarding medicinal research and development activities associated with the specific condition considered.