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PRPH2-related disorder

MedGen UID:
893637
•Concept ID:
CN239395
•
Disease or Syndrome
Synonyms: PRPH2-related condition; PRPH2-Related Disorders

Professional guidelines

PubMed

Genotype-phenotype associations in a large PRPH2-related retinopathy cohort.
Reeves MJ, Goetz KE, Guan B, Ullah E, Blain D, Zein WM, Tumminia SJ, Hufnagel RB
Hum Mutat 2020 Sep;41(9):1528-1539. Epub 2020 Jul 5 doi: 10.1002/humu.24065. PMID: 32531846Free PMC Article

Recent clinical studies

Etiology

Quantitative Fundus Autofluorescence and Genetic Associations in Macular, Cone, and Cone-Rod Dystrophies.
Gliem M, Müller PL, Birtel J, Herrmann P, McGuinness MB, Holz FG, Charbel Issa P
Ophthalmol Retina 2020 Jul;4(7):737-749. Epub 2020 Feb 27 doi: 10.1016/j.oret.2020.02.009. PMID: 32646556

Diagnosis

PRPH2-Related Retinal Dystrophies: Mutational Spectrum in 103 Families from a Spanish Cohort.
Fernández-Caballero L, Martín-Merida I, Blanco-Kelly F, Avila-Fernandez A, Carreño E, Fernandez-San Jose P, Irigoyen C, Jimenez-Rolando B, Lopez-Grondona F, Mahillo I, Martin-Gutierrez MP, Minguez P, Perea-Romero I, Del Pozo-Valero M, Riveiro-Alvarez R, Rodilla C, Rodriguez-Peña L, Sánchez-Barbero AI, Swafiri ST, Trujillo-Tiebas MJ, Zurita O, García-Sandoval B, Corton M, Ayuso C
Int J Mol Sci 2024 Mar 2;25(5) doi: 10.3390/ijms25052913. PMID: 38474159Free PMC Article
Novel heterozygous PRPH2 variant identified in a patient with spinocerebellar ataxia type 14 and macular dystrophy.
Chen TS, Sheri N, Ehmann DS, Benson MD
Ophthalmic Genet 2024 Aug;45(4):409-412. Epub 2024 Feb 29 doi: 10.1080/13816810.2024.2321883. PMID: 38419591

Therapy

Current and Future Directions in Developing Effective Treatments for PRPH2-Associated Retinal Diseases: A Workshop Report.
Ayyagari R, Borooah S, Durham T, Gelfman C, Bowman A
Transl Vis Sci Technol 2024 Oct 1;13(10):16. doi: 10.1167/tvst.13.10.16. PMID: 39382871Free PMC Article

Prognosis

Novel heterozygous PRPH2 variant identified in a patient with spinocerebellar ataxia type 14 and macular dystrophy.
Chen TS, Sheri N, Ehmann DS, Benson MD
Ophthalmic Genet 2024 Aug;45(4):409-412. Epub 2024 Feb 29 doi: 10.1080/13816810.2024.2321883. PMID: 38419591
Quantitative Fundus Autofluorescence and Genetic Associations in Macular, Cone, and Cone-Rod Dystrophies.
Gliem M, Müller PL, Birtel J, Herrmann P, McGuinness MB, Holz FG, Charbel Issa P
Ophthalmol Retina 2020 Jul;4(7):737-749. Epub 2020 Feb 27 doi: 10.1016/j.oret.2020.02.009. PMID: 32646556

Clinical prediction guides

Novel heterozygous PRPH2 variant identified in a patient with spinocerebellar ataxia type 14 and macular dystrophy.
Chen TS, Sheri N, Ehmann DS, Benson MD
Ophthalmic Genet 2024 Aug;45(4):409-412. Epub 2024 Feb 29 doi: 10.1080/13816810.2024.2321883. PMID: 38419591
Quantitative Fundus Autofluorescence and Genetic Associations in Macular, Cone, and Cone-Rod Dystrophies.
Gliem M, Müller PL, Birtel J, Herrmann P, McGuinness MB, Holz FG, Charbel Issa P
Ophthalmol Retina 2020 Jul;4(7):737-749. Epub 2020 Feb 27 doi: 10.1016/j.oret.2020.02.009. PMID: 32646556

Supplemental Content

Table of contents

    Clinical resources

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    Consumer resources

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

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