Aim: To study Wolfram syndrome (WFS) with multidisciplinary consultations and compare the results with the literature.
Methods: Nine patients fulfilled the ascertainment criteria of WFS (insulin-dependent diabetes mellitus and optic atrophy). All patients were evaluated by the departments of paediatrics, ophthalmology, audiology, urology and medical biology.
Results: The earliest manifestation of WFS was insulin-dependent diabetes mellitus (at a median age of 6.9 y), followed by optic atrophy (8.9 y), diabetes insipidus (10.2 y) and deafness (10.5 y). Short stature was found in five cases, delayed puberty in two cases and hypergonadotropic hypogonadism in one case. Audiography disclosed hearing loss at high frequency in all patients (100%), but only five patients had clinical subjective hearing problems. Intravenous pyelography revealed hydroureteronephrosis in eight patients. Urodynamics revealed a normal bladder in only one patient. Three patients had a low-capacity, low-compliance bladder, detrusor external sphincteric dyssynergia and emptying problem, while five had an atonic bladder. Ocular findings were optic atrophy, low visual acuity and colour vision defects. Visual field tests revealed concentric and/or peripheral diminution in five patients. Visual evoked potentials were abnormal (reduced amplitude to both flash and pattern stimulation) in seven patients. Cranial magnetic resonance imaging showed mild or moderate atrophy of the optic nerves, chiasm, cerebellum, basal ganglia and brainstem in six patients; there was a partially empty sella in one case. There was no evidence of mitochondrial tRNA(Leu) (UUR) A to G (nucleotide 3243) mutation.
Conclusion: Wolfram syndrome should be evaluated in a multidisciplinary manner. Some specific and dynamic tests are necessary to make a more precise estimate of the prevalence and median age of the components of WFS. Short stature is a common feature in WFS. Hypogonadism may be hypogonadotropic or hypergonadotropic. Bladder dysfunction does not always present as a large atonic bladder in WFS. A low-capacity, high-pressure bladder with sphincteric dyssynergia is also common.
Download full-text PDF |
Source |
---|---|
http://dx.doi.org/10.1111/j.1651-2227.2003.tb00469.x | DOI Listing |
Ocul Immunol Inflamm
January 2025
Department of Neurology, University Hospital of Angers, Angers, France.
Purpose: To report the clinical presentation and follow-up, including the optical coherence tomography, angiography and electrophysiology of two individuals from the same family presenting with an isolated retinal dystrophy and optic nerve edema who were diagnosed with ROSAH-like syndrome.
Method: Observational case report of a 55-year-old woman and her 36-year-old son with a genetic analysis of ROSAH, after a long-term follow-up.
Results: Both the mother and her son displayed severe optic nerve infiltration and retinal pigment atrophy with intraocular inflammation, which were not improved by immunosuppressive treatment.
Sci Rep
January 2025
Poostchi Ophthalmology Research Center, Department of Ophthalmology, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran.
COVID-19 infection has been linked to ocular involvement, particularly retinal microvascular changes. Additionally, prolonged hypoxemia may affect retinal sublayers located within the retinal watershed zone. The aim of this study was to evaluate retinal and optic nerve OCT parameters in patients with COVID-19 illness of varying severity and compare them with controls.
View Article and Find Full Text PDFJ Pediatr Ophthalmol Strabismus
January 2025
Purpose: To investigate the ophthalmic complications associated with spina bifida myelomeningocele (SBM) in Irish children and to evaluate the impact of spinal lesion levels and shunt status on visual outcomes.
Methods: A retrospective audit was conducted on 129 children with SBM, examining visual acuity, refractive errors, strabismus, papilledema, optic atrophy, and cortical visual impairment (CVI). The median age of participants was 6.
Front Med (Lausanne)
January 2025
Department of Acupuncture, Qingdao Central Hospital, University of Health and Rehabilitation Sciences (Qingdao Central Hospital), Qingdao, China.
Background: Optic atrophy (OA) is primarily caused by damage to the retinal pathway system, including widespread degeneration of retinal ganglion cells and axons, leading to visual impairment and blindness. Despite its clinical significance and diverse etiological factors, there is currently a lack of comprehensive bibliometric analyses exploring research trends and hotspots within this field.
Method: This study retrieved relevant literature on OA published between 2003 and 2023 from the Web of Science Core Collection database.
Cureus
December 2024
Department of Ophthalmology, Dr. D. Y. Patil Medical College, Hospital and Research Centre, Pune, IND.
Optic nerve gliomas are tumors that develop along the optic nerve pathway, most often classified as pilocytic astrocytomas. These growths are typically benign, especially in young children between the ages of one and six years, while the rarer malignant types are generally more aggressive and tend to appear in adults. Characteristically slow-growing, optic nerve gliomas are commonly located in the pre-chiasmal part of the optic nerve but can extend to post-chiasmal regions and into the brain if left untreated.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!