Wolfram syndrome, also known as DIDMOAD or juvenile onset diabetes mellitus, optic nerve atrophy, diabetes insipidus, and deafness, is a genetic neurological condition. This case report provides a description on the first instance of Wolfram syndrome in a Saudi family, which manifested as proliferative diabetic retinopathy and a powder-like cataract, among the other unusual ophthalmological findings. This case involved a 27-year-old Saudi woman with bilateral optic nerve atrophy who was first diagnosed with diabetes mellitus at the age of 8 years. At the age of 18, bilateral optic nerve atrophy was identified. At the age of 27, diabetes insipidus and hearing loss were verified. There were no signs of renal, neurological, or psychiatric issues. Atypical ophthalmological traits were examined and addressed in this study. Any individual with bilateral optic nerve atrophy and insulin-dependent diabetes mellitus within the first 30 years of life should be evaluated for the possibility of Wolfram syndrome. Microvascular diabetes is an incredibly rare complication of Wolfram syndrome. Early diagnosis, treatment, and prevention of severe consequences can result in improved survival rates and quality of life.
Keywords
Atrophy, optic nerve, wolfram syndrome, Saudi Arabia
Maleki N, Bashardoust B, Zakeri A, Salehifar A, Tavosi Z. Diabetes mellitus, diabetes insipidus, optic atrophy, and deafness: A case of Wolfram (DIDMOAD) syndrome. J Curr Ophthalmol. 2016;27:132–5.
Pallotta MT, Tascini, G., Crispoldi, R, Orabona C, Mondanelli G, Grohmann U, Esposito, S. Wolfram syndrome, a rare neurodegenerative disease: from pathogenesis to future treatment perspectives. Journal of translational medicine. 2019;17(1):1–12.
Urano F. Wolfram Syndrome: Diagnosis, management, and treatment. Current Diabetes Reports. 2016;16(1):6. doi:10.1007/s11892-015-0702-6
Delvecchio M, Ortolani F, Palumbo O, Aloi C, Salina A, Susca FC, et al. A Novel Genetic Variant in the WFS1 Gene in a Patient with Partial Uniparental Mero-Isodisomy of Chromosome 4. Int J Mol Sci. 2021;22(15):8082. doi:10.3390/ijms22158082
Shi SM, Han YH, Wang HB. Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2016;51(9):712–5. doi:10.3760/cma.j.issn.1673-0860.2016.09.019
Zmysłowska A, Borowiec M, Fendler W, Jarosz-Chobot P, Myśliwiec M, Szadkowska A, et al. The prevalence of Wolfram syndrome in a paediatric population with diabetes. Endokrynol Pol. 2014;65(4):295–7. doi:10.5603/EP.2014.0040
Barboni P, Amore G, Cascavilla ML, Battista M, Frontino G, Romagnoli M, et al. The pattern of retinal ganglion cell loss in wolfram syndrome is distinct from mitochondrial optic neuropathies. Am J Ophthalmol. 2022;241:206–16. doi:10.1016/j.ajo.2022.03.019
Soares A, Mota Á, Fonseca S, Faria O, Brandão E, Falcão Dos Reis F, et al. Ophthalmologic Manifestations of Wolfram Syndrome: Report of 14 Cases. Ophthalmologica. 2019;241(2):116–9. doi:10.1159/000490535
Iafusco D, Zanfardino A, Piscopo A, Curto S, Troncone A, Chianese A, et al. Metabolic treatment of wolfram syndrome. Int J Environ Res Public Health. 2022;19(5):2755. doi:10.3390/ijerph19052755
Salzano G, Rigoli L, Valenzise M, Chimenz R, Passanisi S, Lombardo F. Clinical Peculiarities in a Cohort of Patients with Wolfram Syndrome 1. Int J Environ Res Public Health. 2022;19(1):520. doi:10.3390/ijerph19010520
Samara A, Lugar HM, Hershey T, Shimony JS. Longitudinal Assessment of Neuroradiologic Features in Wolfram Syndrome. AJNR Am J Neuroradiol. 2020;41(12):2364–9. doi:10.3174/ajnr.A6831
Tarała W, Drachal E, Mazur A, Korczowski B, Szadkowska A, Zmysłowska A, et al. Wolfram Syndrome. Case report. Przypadek zespołu Wolframa. Pediatr Endocrinol Diabetes Metab. 2016;22(1):39–42. doi:10.18544/PEDM-22.01.0049
Kurimoto J, Takagi H, Miyata T, Hodai Y, Kawaguchi Y, Hagiwara D, et al. Deficiency of WFS1 leads to the impairment of AVP secretion under dehydration in male mice. Pituitary. 2021;24(4):582–8. doi:10.1007/s11102-021-01135-6
