Neurosensory hearing loss was present in almost all patients. Eighty-six percent of patients who received an ophthalmologic examination had macular pattern dystrophy (a specific retinal lesion).[ncbi.nlm.nih.gov]
Our study demonstrates that a maternal family history of diabetes and either a personal and/or familyhistory of deafness only distinguish half of patients with MIDD from Sri Lankan subjects with young-onset diabetes.[ncbi.nlm.nih.gov]
Consultants of New York, New York, USA Correspondence to K Bailey Freund, Vitreous Retina Macula Consultants of New York, 460 Park Ave, Fifth Floor, NY 10022, USA; kbfnyf{at}aol.com Statistics from Altmetric.com Choroid treatment lasers retina macula[bjo.bmj.com]
Thirty MIDD patients (85.7%) of 35 exhibited bilateral MPD characterized by linear pigmentation surrounding the macula and optic disc. In 24 of these 30 patients, visual acuity was 20/25 or more in both eyes.[ncbi.nlm.nih.gov]
Methods:The choriocapillaris under the central macula was imaged with the Optovue RTVue XR Avanti using a 10 μm slab thickness.[medworm.com]
This has the appearance of linear pigmentation on the retina surrounding the macula and the optic disc.[academic.oup.com]
Eighty-six percent of patients who received an ophthalmologic examination had macular pattern dystrophy (a specific retinallesion).[ncbi.nlm.nih.gov]
Macular pattern dystrophy is a retinallesion that is commonly seen in MIDD ( 8 ). This has the appearance of linear pigmentation on the retina surrounding the macula and the optic disc.[academic.oup.com]
Combined screening criteria of any two of maternal history of diabetes, personal history of hearingimpairment and family history of hearingimpairment only identified five (55%) of the carriers, with a positive predictive value of 7.4%.[ncbi.nlm.nih.gov]
She had mild left-limb weakness, but no Babinskisign. Brain computed tomography (CT) revealed an abnormal signal over the basal ganglia bilaterally.[ijpmonline.org]
However, some patients with chronic kidney disease and deafness are often misdiagnosed with Alport syndrome. [9], [17], [19] Females without microscopichematuria and macular dystrophy are occasionally diagnosed with X-linked Alport syndrome, [20] but[ijpmonline.org]
As sequela of abdominal ultrasound and confirmed by magnetic resonance cholangio-pancreaticography, she was diagnosed with chronic pancreatitis with pancreaticcalcifications and pancreatic duct dilation, although she was completely asymptomatic and with[ncbi.nlm.nih.gov]
Administration of Co-enzyme Q10 supplements has been proposed for treatment of the mitochondrial defect.[orpha.net]
The cystoid changes responded to treatment with systemic immunosuppression and a topical carbonic anhydrase inhibitor (CAI), recurred when treated with topical CAI monotherapy, and finally resolved after an intravitreal triamcinolone acetonide injection[ncbi.nlm.nih.gov]
Prognosis The prognosis for MIDD is better than that for MELAS syndrome (which occurs mainly in children and has a generally poor prognosis) and for other subtypes of mitochondrial diseases with diabetes.[orpha.net]
Compared to MELAS and other mitochondrial diseases with diabetes, MIDD has a better prognosis. While the disorder has been reported in several regions, it is found to be most common in the Japanese population.[cags.org.ae]
Despite the retinal changes, visual prognosis is generally good in patients with MIDD. In a multicenter study, 80% of patients presented with visual acuity of 6/7.5 or better in both eyes ( 5 ).[entokey.com]
It is worthy to note that the prognosis in that series is poor as more than 50 % of the cases (7/13) lead to the death of the patient.[em-consulte.com]
Recognizing this etiology of DM should promote family screening, genetic counseling, screening of associated comorbidities, avoidance of metformin, and cautious use of statins.[ncbi.nlm.nih.gov]
Etiology In most cases, MIDD is caused by a point mutation in the mitochondrial gene MT-TL1, encoding the mitochondrial tRNA for leucine, and in rare cases in MT-TE and MT-TK genes, encoding the mitochondrial tRNAs for glutamic acid, and lysine, respectively[orpha.net]
Concurrent troponin was negative, ruling out cardiac ischemia as the etiology of her elevated CK and raising suspicion of skeletal muscle breakdown.[academic.oup.com]
Summary Epidemiology The prevalence is unknown, but MIDD accounts for 0.2-3% of all cases of diabetes. Clinical description The first manifestations may occur at any age, but the disease is usually diagnosed in early adulthood.[orpha.net]
The unique pathophysiology of MIDD has spurred investigations into mitochondrial-based therapeutics. CoQ10 is an electron carrier in the respiratory chain of the mitochondria (see Fig. 2 ).[academic.oup.com]
Mitochondrial diabetes: Pathophysiology, clinical presentation, and genetic analysis. Am J Med Genet 2002;115:66-70. 14. Carvalho C, Correia S, Santos MS, Seiça R, Oliveira CR, Moreira PI.[ijpmonline.org]
In Mitochondrial Disorders: from pathophysiology to acquired defects. C. Desnuelle, S. DiMauro, Eds Springer-Verlag, France, 2002, 275-85. [8] Yamamoto M, Sato T, Anno M, Ujike H, Takemoto M.[em-consulte.com]
Pathophysiology of the MELAS 3243 transition mutation. J Biol Chem. 1997 Oct 24;272(43):27189-96 9341162 a b c Janssen GM, Maassen JA, van Den Ouweland JM.[en.wikipedia.org]
Indeed, according to microscopic findings two pathophysiologic mechanisms for FSGS have been hypothesised in this disease, which are still to be elucidated.[m.revistanefrologia.com]
, and 4) provide an opportunity to investigate strategies for preventing diabetes.[ncbi.nlm.nih.gov]
Although there is no cure for this disorder at the present time, preventive care may impact substantially on the quality of life. REFERENCE 1. Cardenas SR, Saber Tehrani AS, Blume G, Kattah JC.[journals.lww.com]
The change from A to G results in a transcription termination factor that prevents the typical expression of rRNA.[jalm.aaccjnls.org]
[…] screening of affected patients and their families, 3) provide genetic counseling, and 4) provide an opportunity to investigate strategies for preventing diabetes.[academic.oup.com]