Wolfram syndrome: Hereditary diabetes mellitus with brainstem and optic atrophy

1996 ◽  
Vol 39 (3) ◽  
pp. 352-360 ◽  
Author(s):  
Neil J. Scolding ◽  
Helen F. Kellar-Wood ◽  
C. Shaw ◽  
John M. Shneerson ◽  
Nagui Antount
Keyword(s):  
Diabetes Mellitus ◽  
Optic Atrophy ◽  
Wolfram Syndrome ◽  
Hereditary Diabetes

scholarly journals Wolfram Syndrome: A Case Report and Review of Clinical Manifestations, Genetics Pathophysiology, and Potential Therapies

2018 ◽  
Vol 2018 ◽  
pp. 1-8 ◽  
Author(s):  
N. B. Toppings ◽  
J. M. McMillan ◽  
P. Y. B. Au ◽  
O. Suchowersky ◽  
L. E. Donovan
Keyword(s):  
Diabetes Mellitus ◽  
Optic Atrophy ◽  
Cell Function ◽  
Clinical Manifestations ◽  
Autosomal Recessive Disorder ◽  
Wolfram Syndrome ◽  
Biallelic Mutations ◽  
Therapeutic Considerations

Background.Classical Wolfram syndrome (WS) is a rare autosomal recessive disorder caused by mutations inWFS1,a gene implicated in endoplasmic reticulum (ER) and mitochondrial function. WS is characterized by insulin-requiring diabetes mellitus and optic atrophy. A constellation of other features contributes to the acronym DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness). This review seeks to raise awareness of this rare form of diabetes so that individuals with WS are identified and provided with appropriate care.Case.We describe a woman without risk factors for gestational or type 2 diabetes who presented with gestational diabetes (GDM) at the age of 39 years during her first and only pregnancy. Although she had optic atrophy since the age of 10 years, WS was not considered as her diagnosis until she presented with GDM. Biallelic mutations inWFS1were identified, supporting a diagnosis of classical WS.Conclusions.The distinct natural history, complications, and differences in management reinforce the importance of distinguishing WS from other forms of diabetes. Recent advances in the genetics and pathophysiology of WS have led to promising new therapeutic considerations that may preserveβ-cell function and slow progressive neurological decline. Insight into the pathophysiology of WS may also inform strategies forβ-cell preservation for individuals with type 1 and 2 diabetes.

A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome)

10.1038/2441 ◽  
1998 ◽  
Vol 20 (2) ◽  
pp. 143-148 ◽  
Author(s):  
Hiroshi Inoue ◽  
Yukio Tanizawa ◽  
Jon Wasson ◽  
Philip Behn ◽  
Kamini Kalidas ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Optic Atrophy ◽  
Transmembrane Protein ◽  
Wolfram Syndrome ◽  
Gene Encoding ◽  
Patients With Diabetes

scholarly journals Wolfram Syndrome presenting with optic atrophy and diabetes mellitus: two case reports

Cases Journal ◽  
2009 ◽  
Vol 2 (1) ◽  
pp. 9355 ◽  
Author(s):  
Masoud Manaviat ◽  
Maryam Rashidi ◽  
Seyed Mohammadi
Keyword(s):  
Diabetes Mellitus ◽  
Optic Atrophy ◽  
Case Reports ◽  
Wolfram Syndrome

Ophthalmic, systemic, and genetic characteristics of patients with Wolfram syndrome

2019 ◽  
Vol 30 (5) ◽  
pp. 1099-1105
Author(s):  
Melih Ustaoglu ◽  
Feyza Onder ◽  
Murat Karapapak ◽  
Hasan Taslidere ◽  
Dilek Guven
Keyword(s):  
Diabetes Mellitus ◽  
Optic Atrophy ◽  
Genetic Disorder ◽  
Plexiform Layer ◽  
Wolfram Syndrome ◽  
Inner Plexiform Layer ◽  
Fiber Layer ◽  
Genetic Analyses ◽  
Genetic Characteristics ◽  
The Mean

Purpose: To evaluate the ophthalmic, systemic, and genetic characteristics of patients with Wolfram syndrome. Methods: In total, 13 patients with suspected or clinically diagnosed Wolfram syndrome underwent ophthalmic and systemic examinations and genetic analyses for Wolfram syndrome between August and October 2018. Results: The mean age of the subjects was 24.2 ± 7.1 years, of which 5 (38.5%) subjects were male and 8 (61.5%) were female. The mean best-corrected visual acuity ranged from counting fingers to 20/40, with a mean of 20/250 (1.10 ± 0.69 logarithm of the minimum angle of resolution). Dyschromatopsia was present in all patients (100%). There was a severe decrease in the average peripapillary retinal nerve fiber layer and macular ganglion cell–inner plexiform layer thicknesses (54.7 ± 6.5 and 51.9 ± 4.8 µm, respectively). Optical coherence tomography angiography showed significantly lower whole-image, inside disk, and peripapillary vessel densities in the patients with Wolfram syndrome than in the healthy controls (p < 0.001 for all). All patients who underwent genetic analyses had mutations in the WFS1 gene. Moreover, two novel mutations, p.Met623Trpfs*2 (c.1867delA) and p.Arg611Profs*9 (c.1832_11847del16) at exon 8, were detected. The frequency of systemic findings was as follows: optic atrophy (100%), diabetes mellitus (92.3%), central diabetes insipidus (38.5%), sensorineural hearing loss (38.5%), and presence of urological (30.8%), psychiatric (30.8%), and neurological (23.1%) diseases. Conclusion: Wolfram syndrome is a rare genetic disorder that can be associated with severe ophthalmic and systemic abnormalities. All patients who present with unexplained optic atrophy should be evaluated for Wolfram syndrome, even if they do not have diabetes mellitus because optic atrophy can sometimes manifest before diabetes mellitus.

scholarly journals Diabetes Mellitus and Optic Atrophy: A Study of Wolfram Syndrome in the Lebanese Population

2004 ◽  
Vol 89 (4) ◽  
pp. 1656-1661 ◽  
Author(s):  
R. Medlej ◽  
J. Wasson ◽  
P. Baz ◽  
S. Azar ◽  
I. Salti ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Diabetes Insipidus ◽  
Optic Atrophy ◽  
Neurodegenerative Disorder ◽  
Sensorineural Deafness ◽  
Microvascular Disease ◽  
Insulin Dependent Diabetes Mellitus ◽  
Wolfram Syndrome ◽  
Dependent Diabetes Mellitus ◽  
Number Of Patients

Abstract Wolfram syndrome (WFS) is a rare hereditary neurodegenerative disorder also known as DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness). WFS seems to be a heterogeneous disease that has not yet been fully characterized in terms of clinical features and pathophysiological mechanisms because the number of patients in most series was small. In this study we describe 31 Lebanese WFS patients belonging to 17 families; this, to our knowledge, is the largest number of patients reported in one series so far. Criteria for diagnosis of WFS were the presence of insulin-dependent diabetes mellitus and optic atrophy unexplained by any other disease. Central diabetes insipidus was found in 87% of the patients, and sensorineural deafness confirmed by audiograms was present in 64.5%. Other less frequent features included neurological and psychiatric abnormalities, urodynamic abnormalities, limited joint motility, cardiovascular and gastrointestinal autonomic neuropathy, hypergonadotropic hypogonadism in males, and diabetic microvascular disease. New features, not reported in previous descriptions, such as heart malformations and anterior pituitary dysfunction, were recognized in some of the patients and participated in the morbidity and mortality of the disease. Genetic analysis revealed WFS1 gene mutations in three families (23.5%), whereas no abnormalities were detected in mitochondrial DNA. In conclusion, WFS is a devastating disease for the patients and their families. More information about WFS will lead to a better understanding of this disease and hopefully to improvement in means of its prevention and treatment.

scholarly journals Diabetes mellitus and optic atrophy: Study of the Wolfram syndrome

2019 ◽  
Vol 153 (4) ◽  
Author(s):  
Bernardette Rivas-Gómez ◽  
Alfredo Adolfo Reza-Albarrán
Keyword(s):  
Diabetes Mellitus ◽  
Optic Atrophy ◽  
Wolfram Syndrome

scholarly journals A Case of Wolfram Syndrome Presenting with Restlessness

2016 ◽  
Vol 34 (1) ◽  
pp. 42-44
Author(s):  
Syed Ghulam Mogni Mowla ◽  
Md Titu Miah ◽  
Ashraf Ur Rahman ◽  
Shamsuddoha Sarker Shonchoi ◽  
Muhammad Nazmul Alam ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Early Detection ◽  
Diabetes Insipidus ◽  
Optic Atrophy ◽  
Early Onset ◽  
Genetic Disorder ◽  
Wolfram Syndrome ◽  
Supportive Treatment ◽  
Rare Genetic Disorder

Wolfram Syndrome ( DIDMOAD) is a rare genetic disorder presenting with Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, Deafness and some other neurological , reproductive , hormonal, urological and psychic problems. About 200 cases have been reported so far. Here we present a 25 years old Bangladeshi male having early onset Diabetes Mellitus, optic atrophy, deafness and many other features consistent with Wolfram Syndrome. We examined the patient thoroughly and did necessary investigations to confirm our diagnosis. As there is no cure of this disorder, we gave symptomatic and supportive treatment to the patient to make his life easier. Although the outcome is unrewarding , such patients will be kept in regular follow up for early detection of new complications and possible solutions.J Bangladesh Coll Phys Surg 2016; 34(1): 42-44

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