Juvenile open-angle Glaucoma associated with Leber’s hereditary optic neuropathy: a case report and literature review

Lin, Yun-Hsuan; Wang, Nan-Kai; Yeung, Ling; Lai, Chi-Chun; Chuang, Lan-Hsin

doi:10.1186/s12886-018-0980-2

Cited by 9 publications

(8 citation statements)

References 36 publications

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“…Postižení jednoho a druhého oka probíhá současně nebo s odstupem i několika týdnu [8]. Asi 60 % pacientů s LHON ví, že mají v rodinné anamnéze LHON, ale 40 % z nich popírá, že by měli známou rodinnou anamnézu [10]. Ztráta zraku je obvykle jediným symptomem onemocnění, byly však zaznamenány některé rodiny s dalšími příznaky.…”

Section: úVodunclassified

Coincidence of Idiopathic Intracranial Hypertension and Leber Hereditary Optic Neuropathy. A Case Report

Myrgorodska¹

2022

CSO

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Goal: This paper describes a case of a long-term monitoring of a patient with optic nerve swelling on the ocular background (papilledema), accompanied by symptoms of intracranial hypertension, on whom a genetic examination was performed as part of differential diagnosis, confirming Leber Hereditary Optic Neuropathy with the m.3460G>A mutation. Casuistry: During the examination of a 5-year-old patient after an alleged head injury at a bouncy castle, an optic nerve papilla with unclear boundaries was described on the ocular background of both eyes. Neurological examination, including brain Magnetic Resonance Imaging, was indicated to rule out possible intracranial hypertension. Both examinations yielded a finding within the norm. After eight years of regular follow-up, the patient attended to our clinic with acute problems in terms of sudden visual impairment during baseball training. The performed eye examination revealed a deterioration of the vision of the right eye on counting fingers to 50 cm, vision of the left eye to 0.4 naturally, a slowed photoreaction of the right pupil, prominent optic nerve papilla with unclear boundaries on both eyes, dilated and more coiled vessels with a crossing phenomenon, the retinal periphery shows no focal changes. Due to the swelling of the papilla, acute deterioration of the vision and the suspected intracranial hypertension, the patient was immediately referred for neurological examination and subsequent hospitalization. There, the patient underwent computer tomography of the brain, venography of the dural venous sinuses and an initial laboratory examination that showed no pathology. There was increasing headache, nausea and vomiting throughout the period. A lumbar puncture was performed. The cerebrospinal fluid pressure before sampling was 285 mmH2O and 100 mmH2O after sampling. The biochemistry of the fluid was normal with negative microbiology. Evoked visual potentials had bilaterally prolonged latencies, which corresponds to optic nerve compression. An ophthalmological examination ruled out a drusen papilla. Using Optical Coherence Tomography, a 600 µm edema was detected. The patient underwent two relieving lumbar punctures, which led to a subjective improvement without objective improvement. Finally, the neurosurgeon referred the patient for ventriculoperitoneal drainage. Due to the impaired vision and lack of response to the therapy induced, a genetic test was performed, which confirmed Leber Hereditary Optic Neuropathy with the mutation of m.3460G>A. Conclusion: Despite the substantially improved identification of the Leber Hereditary Optic Neuropathy, the diagnosis may still be significantly delayed. The variability of initial findings, the rare incidence of the disease and few well-defined symptoms of the disease lead to significant diagnostic difficulties and late commencement of treatment. It is not possible to say whether there was a coincidence of IIH and LHON or whether the signs of IIH are a possible concomitant of the acute phase of LHON.

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Section: úVodunclassified

Coincidence of Idiopathic Intracranial Hypertension and Leber Hereditary Optic Neuropathy. A Case Report

Myrgorodska¹

2022

CSO

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“…These patients may have had biochemical abnormalities in the neonatal period that can include transient hyperammonaemia. 59,60 Glaucoma Raised intraocular pressure may be seen as a secondary feature in several IMD with other ocular pathologies, including in the congenital disorders of glycosylation, 65 Leber's hereditary optic neuropathy 66 and the mucopolysaccharidoses. 67 Retina Retinitis pigmentosa.…”

Section: Lens Pathologymentioning

confidence: 99%

“…Raised intraocular pressure may be seen as a secondary feature in several IMD with other ocular pathologies, including in the congenital disorders of glycosylation, 65 Leber’s hereditary optic neuropathy 66 and the mucopolysaccharidoses. 67…”

Section: Specific Eye Findingsmentioning

confidence: 99%

Eye involvement in inherited metabolic disorders

Davison

2020

Ophthalmol Eye Dis

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Inherited metabolic disorders are a large group of rare disorders affecting normal biochemical pathways. Many metabolic disorders can present with symptoms affecting the eye, and eye disorders can evolve later in the natural history of an already diagnosed metabolic disorder. The ophthalmic involvement can be very varied affecting any part of the eye, including abnormalities of cornea, lens dislocation and cataracts, retina and the distal optic pathway, and extraocular muscles. Awareness of inherited metabolic disorders is important to facilitate early diagnosis and in some cases instigate early treatment if a patient presents with eye involvement suggestive of a metabolic disorder. Ophthalmological interventions are also an important component of the multisystem holistic approach to treating patients with metabolic disorders.

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“…Given that mutations in mitochondrially encoded complex I subunits can result in a range of diseases including Leber's Hereditary Optic Neuropathy (LHON) (De Vries et al, 1996;Lin et al, 2018), we sought to determine if TMEM126A plays a direct or indirect role in the assembly of mitochondrial OXPHOS complexes, particularly complex I. Complete loss of TMEM126A results in isolated complex I deficiency, with decreased levels of the fully assembled enzyme as well individual complex I subunits.…”

Section: Introductionmentioning

confidence: 99%

Optic Atrophy-associated TMEM126A is an assembly factor for the ND4-module of Mitochondrial Complex I

Formosa

Reljić

Sharpe

et al. 2020

Preprint

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Mitochondrial disease is a debilitating condition with a diverse genetic aetiology. Here, we report that TMEM126A, a protein that is mutated in patients with autosomal recessive optic atrophy, participates directly in the assembly of mitochondrial complex I. Using a combination of genome editing, interaction studies and quantitative proteomics, we find that loss of TMEM126A results in an isolated complex I deficiency and that TMEM126A interacts with a number of complex I subunits and assembly factors. Pulse-labelling interaction studies reveal that TMEM126A associates with the newly synthesised mtDNA-encoded ND4 subunit of complex I. Our findings indicate that TMEM126A is involved in the assembly of the ND4 distal membrane module of complex I. Importantly, we clarify that the function of TMEM126A is distinct from its paralogue TMEM126B, which acts in assembly of the ND2-module of complex I, helping to explain the differences in disease aetiology observed between these two genes.

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Juvenile open-angle Glaucoma associated with Leber’s hereditary optic neuropathy: a case report and literature review

Cited by 9 publications

References 36 publications

Coincidence of Idiopathic Intracranial Hypertension and Leber Hereditary Optic Neuropathy. A Case Report

Coincidence of Idiopathic Intracranial Hypertension and Leber Hereditary Optic Neuropathy. A Case Report

Eye involvement in inherited metabolic disorders

Optic Atrophy-associated TMEM126A is an assembly factor for the ND4-module of Mitochondrial Complex I

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