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Retinal degeneration and epilepsy

MedGen UID:
341450
•Concept ID:
C1849416
•
Disease or Syndrome
Synonym: Retinal Degeneration and Epilepsy
 
Monarch Initiative: MONDO:0009976
OMIM®: 267740

Clinical features

From HPO
Seizure
MedGen UID:
20693
•Concept ID:
C0036572
•
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
See: Feature record | Search on this feature
Retinal degeneration
MedGen UID:
48432
•Concept ID:
C0035304
•
Finding
A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells.
See: Feature record | Search on this feature
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Professional guidelines

PubMed

Acid ceramidase and the treatment of ceramide diseases: The expanding role of enzyme replacement therapy.
Schuchman EH
Biochim Biophys Acta 2016 Sep;1862(9):1459-71. Epub 2016 May 4 doi: 10.1016/j.bbadis.2016.05.001. PMID: 27155573
WWOX-related encephalopathies: delineation of the phenotypical spectrum and emerging genotype-phenotype correlation.
Mignot C, Lambert L, Pasquier L, Bienvenu T, Delahaye-Duriez A, Keren B, Lefranc J, Saunier A, Allou L, Roth V, Valduga M, Moustaïne A, Auvin S, Barrey C, Chantot-Bastaraud S, Lebrun N, Moutard ML, Nougues MC, Vermersch AI, Héron B, Pipiras E, Héron D, Olivier-Faivre L, Guéant JL, Jonveaux P, Philippe C
J Med Genet 2015 Jan;52(1):61-70. Epub 2014 Nov 19 doi: 10.1136/jmedgenet-2014-102748. PMID: 25411445
Planned preterm delivery and treatment of retinal neovascularization in Norrie disease.
Sisk RA, Hufnagel RB, Bandi S, Polzin WJ, Ahmed ZM
Ophthalmology 2014 Jun;121(6):1312-3. Epub 2014 Feb 14 doi: 10.1016/j.ophtha.2014.01.001. PMID: 24529712Free PMC Article

Recent clinical studies

Etiology

Ophthalmoplegia in Mitochondrial Disease.
Lee SJ, Na JH, Han J, Lee YM
Yonsei Med J 2018 Dec;59(10):1190-1196. doi: 10.3349/ymj.2018.59.10.1190. PMID: 30450853Free PMC Article
Clinical manifestation of mitochondrial diseases.
Magner M, Kolářová H, Honzik T, Švandová I, Zeman J
Dev Period Med 2015 Oct-Dec;19(4):441-9. PMID: 26982751
The genetics of mitochondrial disease.
Davis RL, Sue CM
Semin Neurol 2011 Nov;31(5):519-30. Epub 2012 Jan 21 doi: 10.1055/s-0031-1299790. PMID: 22266889
Mitochondrial diseases.
DiMauro S
Biochim Biophys Acta 2004 Jul 23;1658(1-2):80-8. doi: 10.1016/j.bbabio.2004.03.014. PMID: 15282178
Mitochondrial cytopathies.
Schmiedel J, Jackson S, Schäfer J, Reichmann H
J Neurol 2003 Mar;250(3):267-77. doi: 10.1007/s00415-003-0978-3. PMID: 12638015

Diagnosis

Ophthalmoplegia in Mitochondrial Disease.
Lee SJ, Na JH, Han J, Lee YM
Yonsei Med J 2018 Dec;59(10):1190-1196. doi: 10.3349/ymj.2018.59.10.1190. PMID: 30450853Free PMC Article
Mitochondrial cytopathies.
El-Hattab AW, Scaglia F
Cell Calcium 2016 Sep;60(3):199-206. Epub 2016 Mar 4 doi: 10.1016/j.ceca.2016.03.003. PMID: 26996063
Clinical manifestation of mitochondrial diseases.
Magner M, Kolářová H, Honzik T, Švandová I, Zeman J
Dev Period Med 2015 Oct-Dec;19(4):441-9. PMID: 26982751
The genetics of mitochondrial disease.
Davis RL, Sue CM
Semin Neurol 2011 Nov;31(5):519-30. Epub 2012 Jan 21 doi: 10.1055/s-0031-1299790. PMID: 22266889
Mitochondrial cytopathies.
Schmiedel J, Jackson S, Schäfer J, Reichmann H
J Neurol 2003 Mar;250(3):267-77. doi: 10.1007/s00415-003-0978-3. PMID: 12638015

Therapy

Acid ceramidase and the treatment of ceramide diseases: The expanding role of enzyme replacement therapy.
Schuchman EH
Biochim Biophys Acta 2016 Sep;1862(9):1459-71. Epub 2016 May 4 doi: 10.1016/j.bbadis.2016.05.001. PMID: 27155573
Vigabatrin-associated retinal damage: potential biochemical mechanisms.
Heim MK, Gidal BE
Acta Neurol Scand 2012 Oct;126(4):219-28. Epub 2012 May 26 doi: 10.1111/j.1600-0404.2012.01684.x. PMID: 22632110
Therapeutic applications of taurine.
Birdsall TC
Altern Med Rev 1998 Apr;3(2):128-36. PMID: 9577248
Taurine: an overview of its role in preventive medicine.
Kendler BS
Prev Med 1989 Jan;18(1):79-100. doi: 10.1016/0091-7435(89)90056-x. PMID: 2496406
Gelastic epilepsy.
Gumpert J, Hansotia P, Upton A
J Neurol Neurosurg Psychiatry 1970 Aug;33(4):479-83. doi: 10.1136/jnnp.33.4.479. PMID: 5505675Free PMC Article

Prognosis

Postnatal microcephaly and retinal involvement expand the phenotype of RPL10-related disorder.
Cappuccio G, De Bernardi ML, Morlando A, Peduto C, Scala I, Pinelli M, Bellacchio E, Gallo FG, Magli A, Plaitano C, Serrano M, Pías L, Català J, Bolasell M, Torella A, Nigro V, Zanni G, Brunetti-Pierri N
Am J Med Genet A 2022 Oct;188(10):3032-3040. Epub 2022 Jul 25 doi: 10.1002/ajmg.a.62911. PMID: 35876338Free PMC Article
De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus.
Galosi S, Edani BH, Martinelli S, Hansikova H, Eklund EA, Caputi C, Masuelli L, Corsten-Janssen N, Srour M, Oegema R, Bosch DGM, Ellis CA, Amlie-Wolf L, Accogli A, Atallah I, Averdunk L, Barañano KW, Bei R, Bagnasco I, Brusco A, Demarest S, Alaix AS, Di Bonaventura C, Distelmaier F, Elmslie F, Gan-Or Z, Good JM, Gripp K, Kamsteeg EJ, Macnamara E, Marcelis C, Mercier N, Peeden J, Pizzi S, Pannone L, Shinawi M, Toro C, Verbeek NE, Venkateswaran S, Wheeler PG, Zdrazilova L, Zhang R, Zorzi G, Guerrini R, Sessa WC, Lefeber DJ, Tartaglia M, Hamdan FF, Grabińska KA, Leuzzi V
Brain 2022 Mar 29;145(1):208-223. doi: 10.1093/brain/awab299. PMID: 34382076Free PMC Article
Ophthalmoplegia in Mitochondrial Disease.
Lee SJ, Na JH, Han J, Lee YM
Yonsei Med J 2018 Dec;59(10):1190-1196. doi: 10.3349/ymj.2018.59.10.1190. PMID: 30450853Free PMC Article
Mitochondrial cytopathies.
El-Hattab AW, Scaglia F
Cell Calcium 2016 Sep;60(3):199-206. Epub 2016 Mar 4 doi: 10.1016/j.ceca.2016.03.003. PMID: 26996063
Clinical manifestation of mitochondrial diseases.
Magner M, Kolářová H, Honzik T, Švandová I, Zeman J
Dev Period Med 2015 Oct-Dec;19(4):441-9. PMID: 26982751

Clinical prediction guides

Postnatal microcephaly and retinal involvement expand the phenotype of RPL10-related disorder.
Cappuccio G, De Bernardi ML, Morlando A, Peduto C, Scala I, Pinelli M, Bellacchio E, Gallo FG, Magli A, Plaitano C, Serrano M, Pías L, Català J, Bolasell M, Torella A, Nigro V, Zanni G, Brunetti-Pierri N
Am J Med Genet A 2022 Oct;188(10):3032-3040. Epub 2022 Jul 25 doi: 10.1002/ajmg.a.62911. PMID: 35876338Free PMC Article
Potassium Channel KCNH1 Activating Variants Cause Altered Functional and Morphological Ciliogenesis.
Napoli G, Panzironi N, Traversa A, Catalanotto C, Pace V, Petrizzelli F, Giovannetti A, Lazzari S, Cogoni C, Tartaglia M, Carella M, Mazza T, Pizzuti A, Parisi C, Caputo V
Mol Neurobiol 2022 Aug;59(8):4825-4838. Epub 2022 May 31 doi: 10.1007/s12035-022-02886-4. PMID: 35639255Free PMC Article
Patterns of retrograde axonal degeneration in the visual system.
de Vries-Knoppert WA, Baaijen JC, Petzold A
Brain 2019 Sep 1;142(9):2775-2786. doi: 10.1093/brain/awz221. PMID: 31363733
The doublecortin gene family and disorders of neuronal structure.
Dijkmans TF, van Hooijdonk LW, Fitzsimons CP, Vreugdenhil E
Cent Nerv Syst Agents Med Chem 2010 Mar;10(1):32-46. doi: 10.2174/187152410790780118. PMID: 20236041
Taurine: an overview of its role in preventive medicine.
Kendler BS
Prev Med 1989 Jan;18(1):79-100. doi: 10.1016/0091-7435(89)90056-x. PMID: 2496406

Recent systematic reviews

Neuropathy, Ataxia, and Retinitis Pigmentosa Syndrome.
Finsterer J
J Clin Neuromuscul Dis 2023 Mar 1;24(3):140-146. doi: 10.1097/CND.0000000000000422. PMID: 36809201

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