The case of a 45-year-old woman with gyrate atrophy of the choroid and retina is documented. Additional features in this case, to the authors' knowledge not previously described in gyrate atrophy, are massive cystinuria, massive lysinuria, axial hypermetropia and diabetes. Gyrate atrophy is a rare autosomal recessive degenerative disease of the choroid and retina and is accompanied by defective ornithine metabolism. Simell and Takki demonstrated the association with hyperornithinaemia in 1973. The main metabolic features are those of hyperornithinaemia and ornithuria caused by a deficiency of the mitochondrial matrix enzyme, ornithine aminotransferase (OAT). The responsible human gene has been localised to chromosome 10. Despite the generalised deficiency of OAT, the literature indicates significant pathological involvement of the eye only. Ophthalmological features of the disease are myopia (up to 10-20 dioptres), night blindness, constricted visual fields and complicated cataracts. The clinical picture has been detailed previously by various authors. The case of a 45-year-old woman with gyrate atrophy and hyperornithinaemia is documented here. She has been followed up for 12 years and fully investigated. Additional features in this case, to our knowledge not previously described in gyrate atrophy, are massive cystinuria, massive lysinuria, axial hypermetropia and diabetes.
Introduction Various lateral and anterior approaches to access the infratemporal fossa (ITF) have been described. We provide our observations regarding the endoscopic transpterygoid and preauricular subtemporal approaches, listing their respective advantages and limitations through cadaveric dissection. Methods A cadaver study was performed on five adult specimens. An endoscopic transpterygoid approach to the ITF was completed bilaterally in three specimens, and an open preauricular ITF approach was performed bilaterally in two specimens. Results After completing the cadaveric dissections, we studied differences between the endoscopic transpterygoid approach and open preauricular subtemporal approaches in regard to exposure and ease of dissection of different structures in the ITF. Conclusions In comparison with a lateral approach, the endonasal endoscopic transpterygoid approach provides better visualization and more direct exposure of median structures such as the nasopharynx, eustachian tube, sella, and clivus. We concluded that the endoscopic transpterygoid approach can be utilized to resect benign lesions and some select group of malignancies involving the infratemporal and middle cranial fossae. Open approaches continue to play an important role, especially in the resection of extensive malignant tumors extending to these regions.
A middle-aged asymptomatic patient was referred to the eye clinic by her optician because of unusual optic nerve heads. She was found to have optic disc pits with bilateral serous retinal detachments which were non-progressive. She did not need any treatment and was safely followed up in the community. This uncommon condition is discussed along with possible pathophysiology and treatment.
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