Disease relevance of GUST

• Optic atrophy type 1 (OPA1, MIM 165500) is a dominantly inherited optic neuropathy occurring in 1 in 50,000 individuals that features progressive loss in visual acuity leading, in many cases, to legal blindness [1].
• Wolfram syndrome (MIM 222300) is the association of juvenile onset diabetes mellitus and optic atrophy, also known as DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness) [2].
• The mitochondrial 13513G>A mutation is most frequent in Leigh syndrome combined with reduced complex I activity, optic atrophy and/or Wolff-Parkinson-White [3].
• These patients may represent previously unreported variants of the "DIDMOAD" (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy and Deafness) syndrome [4].
• Optic atrophy but no uveitis was noted in the affected eye [5].

Psychiatry related information on GUST

• Optic atrophy, tapeto-retinal degenerations, surdity, epilepsy, and possibly also dementia, were found together with monomeric disease, as well as in the Un subjects, particularly in families with recessive HA [6].
• Optic atrophy and dilation of the cerebral cerebral ventricles associated with blindness, microcephaly, and mental retardation have been reported following second and third trimester exposure [7].

High impact information on GUST

• Optic atrophy, esotropia, nystagmus, and spastic diplegia were evident [8].
• Optic atrophy, hearing loss, and peripheral neuropathy [9].
• Optic atrophy was present in six patients, nystagmus in three, blepharoptosis in one, cataract in one, and limitation on abduction in one [10].
• Alopecia, Pseudo- anodontia (failure of tooth eruption), and progressive Optic atrophy [11].
• A Novel OPA1 Mutation Responsible for Autosomal Dominant Optic Atrophy with High Frequency Hearing Loss in a Chinese Family [12].

Chemical compound and disease context of GUST

• Optic atrophy following repeated courses of tartar emetic for the treatment of bilharziasis [13].

Biological context of GUST

• Optic atrophy with visual field defect in a worker occupationally exposed to lead for 30 years [14].
• Autosomal Dominant Optic Atrophy: Penetrance and Expressivity in Patients With OPA1 Mutations [15].
• Optic atrophy treated with acupuncture [16].
• Optic atrophy in children is a topic which is very poorly covered in standard textbooks either of neurology or ophthalmology [17].
• Optic atrophy, microcephaly, mental retardation and mosaic variegated aneuploidy: a human mitotic mutation [18].

Anatomical context of GUST

• BACKGROUND: Optic atrophy, attenuation of the oscillatory potentials (OPs) of the electroretinogram (ERG), and enlargement of corneal endothelial cells, have been reported in patients with spinocerebellar ataxia type 1 (SCA1) [19].
• Neurological sequelae were observed in 78.5% patients, which included cognitive impairment in 55%, motor deficit in 40%, optic atrophy in 37% and other cranial nerve palsy in 23% [20].
• White eyelashes, seen only in our cases, may be a sign of "early senility." CONCLUSIONS: Optic atrophy is not a constant finding in GAPO syndrome [21].
• Optic atrophy, diabetes mellitus, hypothlamic dysfunction and a small sella turcica [22].

Associations of GUST with chemical compounds

• Optic atrophy in Wolfram (DIDMOAD) syndrome [23].
• Optic atrophy and cerebral infarcts caused by methanol intoxication: MRI [24].
• Optic atrophy after propoxyphene overdose: report of a case [25].
• Optic atrophy after irrigation of the lacrimal ducts with chloramphenicol [26].

Other interactions of GUST

• Optic atrophy and high myopia showed trends of being a protective influence [27].
• Optic atrophy and high frequency sensorineural hearing loss were found at 7 and 9 5/12 years of age, respectively [28].
• Optic atrophy in Marinesco-Sjögren syndrome: an additional ocular feature. Report of three cases in two families [29].
• Delayed-Onset Craniosynostosis. Concerning the Article by O'Hara et al: Case Report of Optic Atrophy in Pansynostosis: An Unusual Presentation of Scalp Edema from Hair Braiding (Pediatr Neurosurg 2006;42: 100-104) [30].

Analytical, diagnostic and therapeutic context of GUST

• Optic atrophy. Differential diagnosis by fundus observation alone [31].
• Optic atrophy following prophylactic chemotherapy and cranial radiation for acute lymphocytic leukemia [32].
• CONCLUSIONS: Optic atrophy is an important finding in infantile neuroaxonal dystrophy, and conjunctival biopsy is a reliable and very convenient diagnostic test [33].
• Optic atrophy following jejunoileal bypass [34].

References