Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P50583 (asymmetrical)
12,197 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

This report is of two cases of asymmetrical papilloedema in patients with asymmetrical intraocular pressures (IOPs). The first patient presented with headaches, transient visual obscurations (TVOs), and elevated IOPs, and was found to have increased intracranial pressure caused by a torcula meningioma. He developed papilloedema after his IOPs were pharmacologically lowered; the papilloedema resolved after the IOP became elevated again after stopping his glaucoma drops, and then again returned as the IOP reduced when the drops were restarted. The second patient with a history of Sturge-Weber syndrome requiring previous left trabeculectomy, presented with left-sided TVOs, photopsia, and pulsatile tinnitus caused by idiopathic intracranial hypertension. Asymmetrical papilloedema was observed, worse in the eye with the lower IOP following trabeculectomy. These cases suggest that asymmetric IOP may be one factor that can influence the development of asymmetric papilloedema. Ophthalmologists finding disc swelling at low normal pressures should ask about symptoms of raised ICP, and neuro-ophthalmologists confronted with asymmetrical disc swelling should routinely measure IOP.
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PMID:Asymmetrical Intraocular Pressures and Asymmetrical Papilloedema in Pseudotumor Cerebri Syndrome. 2792 21

BACKGROUND Infantile nephropathic cystinosis is the most common and severe variant of cystinosis, which is a rare autosomal recessive condition related to a defect in the transportation of the protein cystine resulting in its deposition in various organs. Due to the rarity of this condition, only 1 case with extensive ocular involvement has been found in the English-language literature. Here, we report a second such case to highlight the significance of early diagnosis in avoiding devastating but preventable vision loss. CASE REPORT We describe the extensive asymmetrical ocular involvement in a 22-year-old woman who had nephropathic cystinosis since childhood. Despite frequent follow up and systemic and topical cysteamine therapy, she developed ocular complications, including increased intraocular pressure, uveitis, and retinal changes with complete loss of vision in her left eye. In addition, her general condition requires a renal transplant in the near future. CONCLUSIONS Ophthalmologists should be aware of cystinosis and the sequalae of ocular involvement in this disease, despite its rarity. Identification of the earliest corneal deposits should not be overlooked, especially in the context of other systemic manifestations that are indicative of the nephropathic variant of cystinosis.
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PMID:Asymmetrical Ocular Manifestations of Nephropathic Cystinosis; A Case Report. 3148 49


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