Three siblings are reported with childhood onset hereditary motor and sensory neuropathy (HMSN) and adult onset optic atrophy. Electrophysiological studies showed an axonal neuropathy and dysfunction of the retinal ganglion cells or optic nerve. The presumed mode of inheritance is autosomal recessive. This is the second family in which autosomal recessive inheritance of HMSN and optic atrophy (...

conclusions the individuals should have multidisciplinary approach for the variety of disorders to maintain the appropriate treatment for a better appearance of the patients. case presentation we describe a patient with progressive hemifacial atrophy at right facial side who developed granulomatous uveitis and periferic retinal vasculitis in his left eye. we started topical and systemic steroid...

purpose: to report the first case of concomitant optic nerve transection and chorioretinitis sclopetaria patient and findings: a 12-year-old boy with history of bb gun injury to his right eye was referred for loss of vision 8 months after the accident. visual acuity in the right eye was counting fingers at one meter with 3+ rapd. on slit lamp examination, right eye seemed normal except 1+ anter...

A family is described in which a probable new form of sex-linked optic atrophy was found in eight individuals. Some additional neurological abnormalities were noted. Results of studies of the Xg blood group excluded close linkage between the optic atrophy and Xg genes. As a probable coincidence, Huntington's chorea was found in a side branch of the family.

We describe a woman who presented with cataracts, optic atrophy, lipodystrophy/lipoatrophy, and peripheral neuropathy. Exome sequencing identified a c.235C > G p.(Leu79Val) variant in the optic atrophy 3 (OPA3) gene that was confirmed to be de novo. This report expands the severity of the phenotypic spectrum of autosomal dominant OPA3 mutations.

Two patients with sectorial optic atrophy and homonymous, horizontal sectoranopia are described. Neuroradiological investigations localised the visual pathway lesion to the lateral geniculate body. The peculiar nature of the field defect and the optic atrophy appeared explicable in terms of ischaemia in the territory of the lateral choroidal artery.

Two brothers with DIDMOAD syndrome are reported. The older brother has diabetes mellitus (type I), diabetes insipidus, optic atrophy, deafness and atonia of the urinary tract with severe symptoms such as diabetic ketoacidosis and frequent urinary tract infections. His younger brother had the same manifestations but with less severity. We report the findings of our two patients and compare ...

UNLABELLED DEFINITION OF THE DISEASE: Dominant Optic Atrophy (DOA) is a neuro-ophthalmic condition characterized by a bilateral degeneration of the optic nerves, causing insidious visual loss, typically starting during the first decade of life. The disease affects primary the retinal ganglion cells (RGC) and their axons forming the optic nerve, which transfer the visual information from the pho...

Wolfram syndrome (MIM 222300) is the association ofjuvenile onset diabetes mellitus and optic atrophy, also known as DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness). Patients present with diabetes mellitus followed by optic atrophy in the first decade, cranial diabetes insipidus and sensorineural deafness in the second decade, dilated renal outflow tracts early in t...

Marquardt and Loriaux (I974) describe a kinship of two siblings with the combination of diabetes mellitus, diabetes insipidus, and optic atrophy in which there was additional evidence of renal tract dilatation, amino-aciduria, and neurosensory hearing deficit. These authors cite 41 cases of optic atrophy and diabetes mellitus reported since an association of these conditions was first described...