Dominantly Inherited Optic Atrophy

Joseph, Ruby; Davey, J. B.

doi:10.1136/bjo.42.7.413

Cited by 12 publications

(4 citation statements)

References 5 publications

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“…Our patient stated that he had always been inconvenienced in poor light, which is a common complaint in these patients. In our case dark adaptation was not examined, but other examiners (Joseph & Davey 1958) found poor dark adaptation, but not as severe as that seen in diffuse retinal degenerations (Grutzner 1963). The histopathological examination of the eyeballs showed heavy fibrosis of the ganglion cell layer, a reduced number of ganglion cells in the posterior part of the retina as well as partial atrophy of the optic nerve.…”

Section: ?'Emcontrasting

confidence: 49%

“…In dominant optic atrophy, simultaneous occurrence of other anomalies is not characteristic. A few authors (Kjer 1956(Kjer , 1959Joseph & Davey 1958) have described mental disorders in up to 10% of the patients, and other authors (Kok-Van Alphen 1960, 1970Gernet 1963;Koiouiek 1965;Michal et al 1968;Hoyt 1980) have described families with accompanying deafness, assymetry of the face and deformations of the ears. Our patient was mentally normal and had no accompanying symptoms.…”

Section: ?'Emmentioning

confidence: 99%

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Histopathology of Eye, Optic Nerve and Brain in a Case of Dominant Optic Atrophy

Kjer

Jensen

Klinken

1983

Acta Ophthalmologica

168

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Histopathology of eye, optic nerve and brain was performed in a patient with typical signs and symptoms of dominant optic atrophy. He belonged to a previously-reported family of 152 members in which optic atrophy was demonstrable in 14 persons, and probably present in a further 8 cases. In the eyes, fibrosis of the retinal ganglion cell layer and disc was found. Ultrastructural examination showed a few remaining cells in this layer, heavy fibrosis and in particular a highly condensed inner limiting membrane. The optic nerves, the optic chiasm and optic tracts showed an increased content of collagen tissue and a decreased number of neurofibrils and myelin sheaths. In the lateral geniculate body there was massive loss of ganglion cells, fibrillary gliosis and a great quantity of fine granular lipid in the cytoplasm of the ganglion cells. No changes in the calcarine cortex were observed. Examination of the intracranial part of both vestibulocochlear nerves showed a decreased number of neurofibrils and myelin sheaths. It is concluded that the histopathological changes of the visual system are similar to those in Leber's disease, but less pronounced. The study confirms earlier theories that dominant optic atrophy is a primary degeneration of the ganglion cell layer in the retina, with ascending optic atrophy.

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Section: ?'Emcontrasting

confidence: 49%

Section: ?'Emmentioning

confidence: 99%

Histopathology of Eye, Optic Nerve and Brain in a Case of Dominant Optic Atrophy

Kjer

Jensen

Klinken

1983

Acta Ophthalmologica

168

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“…Many studies have proven visual acuity/impairment as a cause of collisions on the road. 27,28 The nature of fatality depends on the type of collision. 14,18 Head injuries accounted for the majority of fatalities recorded with 58.27%.…”

Section: Discussionmentioning

confidence: 99%

Latent Medical Conditions of Drivers Involved in Road Traffic Collisions in Ghana: Implication from Autopsy Findings

Ossei

Agyeman-Duah

Ayibor

et al. 2021

Clin Med�Insights�Pathol

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Background: Unlike some neighboring countries like Nigeria, few studies on actual causes, impact and the prevention of road traffic collisions have been carried out in Ghana. There is the need for further research and this study sought to link injuries that caused the death of drivers involved in vehicular collisions to the latent possible contributing diseases and medical conditions in these drivers and how these conditions predispose them to the collisions. Methods: This is a retrospective study that used the forensic autopsy records of driver fatalities and various injuries and medical conditions of drivers involved in road traffic collisions. Information on all drivers was retrieved from archives at the Komfo Anokye Teaching Hospital’ Pathology Unit. Demographics and cause of death were used in selecting the cases, including all driver-related road traffic collisions from 2009 to 2014. Results: A total of 1842 road traffic collisions were recorded with 127 of them being driver related. There were 31 cases (24.4%) in 2014; the highest cases recorded for this study, with the least recorded in 2009 with only 12 cases (9.4%). There were 121 (95.3%) male drivers and 6 female drivers (4.7%). Most of the male drivers were between the ages of 30 and 39 with 39 cases, while that of females was between 40 and 49 years with 6 cases. There was no significant statistical correlation between age and sex ( P = .124). No statistical correlation also existed between sex and year ( P = .331). Pathologies of all body systems were established. Cardiovascular diseases were the most prevalent systemic medical condition seen in the drivers with 44.1%. Conclusion: The study established that the drivers had various latent medical conditions and all these could lead to possible incapacitation, affecting driver judgment, leading to collisions on the road. The National Road Safety Commission (NRSC) should request medical screening before issuing driver licenses.

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“…Scott (19411, Iverson (1958), Joseph and Davey (1958), Manchester andCalhoun ( 1958), Kjer ( 1959) and Kok-van Alphen (1960) report abnormalities of the macula. Mostly this is absence, increase or diffuseness of the foveal reflex, sometimes indistinctness of the macula or pigmentary stippling.…”

Section: Fundusmentioning

confidence: 95%

Dominantly Inherited Juvenile Optic Atrophy

Smith¹

1969

Clinical and Experimental Optometry

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Until recently, the separate existence and nature of the juvenile form of dominantly inherited optic atrophy have been generally overlooked. Yet the condition has a characteristic clinical picture. Individual features of this clinical picture, but in no instance all of them, are common to other diseases, especially tobacco-alcohol amblyopia and glaucoma. Theoretical assessment of the site of the basic lesion is frustrated by contradictions between the known facts. The condition is common, and is one of which all optometrists should be aware.

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Dominantly Inherited Optic Atrophy

Cited by 12 publications

References 5 publications

Histopathology of Eye, Optic Nerve and Brain in a Case of Dominant Optic Atrophy

Histopathology of Eye, Optic Nerve and Brain in a Case of Dominant Optic Atrophy

Latent Medical Conditions of Drivers Involved in Road Traffic Collisions in Ghana: Implication from Autopsy Findings

Dominantly Inherited Juvenile Optic Atrophy

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