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Retinitis pigmentosa 24(RP24)

MedGen UID:
854690
•Concept ID:
C3887982
•
Disease or Syndrome
Synonym: RP 24
 
Monarch Initiative: MONDO:0010259
OMIM®: 300155

Definition

A retinitis pigmentosa that has material basis in variation in the chromosome region Xq26-q27. [from MONDO]

Clinical features

From HPO
Progressive cone degeneration
MedGen UID:
854161
•Concept ID:
C3665342
•
Disease or Syndrome
Inherited progressive cone degeneration.
See: Feature record | Search on this feature
Rod-cone dystrophy
MedGen UID:
1632921
•Concept ID:
C4551714
•
Disease or Syndrome
An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones.
See: Feature record | Search on this feature

Professional guidelines

PubMed

Retinitis Pigmentosa: Current Clinical Management and Emerging Therapies.
Nguyen XT, Moekotte L, Plomp AS, Bergen AA, van Genderen MM, Boon CJF
Int J Mol Sci 2023 Apr 19;24(8) doi: 10.3390/ijms24087481. PMID: 37108642Free PMC Article
Clinical utility gene card for: Meckel syndrome - update 2016.
Bergmann C, Frank V, Salonen R
Eur J Hum Genet 2016 Aug;24(8) Epub 2016 Apr 20 doi: 10.1038/ejhg.2016.33. PMID: 27094752Free PMC Article
Stem cells in clinical trials for treatment of retinal degeneration.
Klassen H
Expert Opin Biol Ther 2016;16(1):7-14. Epub 2015 Sep 28 doi: 10.1517/14712598.2016.1093110. PMID: 26414165

Recent clinical studies

Etiology

Importance of ocular electrophysiology in the diagnosis of retinal dystrophies.
Domínguez-Serrano FB, Jiménez-López E, Ramos Jiménez M, Ponte-Zuñiga B, Gómez-Escobar A, Díaz-Granda MJ, Gutiérrez-Sánchez E, Morillo-Sánchez MJ, Menéndez-de-León C, Rodríguez-de-la-Rúa-Franch E
Arch Soc Esp Oftalmol (Engl Ed) 2019 Apr;94(4):160-164. Epub 2019 Jan 30 doi: 10.1016/j.oftal.2018.12.009. PMID: 30711256
Transcription map of Xq27: candidates for several X-linked diseases.
Zucchi I, Jones J, Affer M, Montagna C, Redolfi E, Susani L, Vezzoni P, Parvari R, Schlessinger D, Whyte MP, Mumm S
Genomics 1999 Apr 15;57(2):209-18. doi: 10.1006/geno.1999.5768. PMID: 10198160

Diagnosis

Importance of ocular electrophysiology in the diagnosis of retinal dystrophies.
Domínguez-Serrano FB, Jiménez-López E, Ramos Jiménez M, Ponte-Zuñiga B, Gómez-Escobar A, Díaz-Granda MJ, Gutiérrez-Sánchez E, Morillo-Sánchez MJ, Menéndez-de-León C, Rodríguez-de-la-Rúa-Franch E
Arch Soc Esp Oftalmol (Engl Ed) 2019 Apr;94(4):160-164. Epub 2019 Jan 30 doi: 10.1016/j.oftal.2018.12.009. PMID: 30711256

Prognosis

Transcription map of Xq27: candidates for several X-linked diseases.
Zucchi I, Jones J, Affer M, Montagna C, Redolfi E, Susani L, Vezzoni P, Parvari R, Schlessinger D, Whyte MP, Mumm S
Genomics 1999 Apr 15;57(2):209-18. doi: 10.1006/geno.1999.5768. PMID: 10198160

Clinical prediction guides

Importance of ocular electrophysiology in the diagnosis of retinal dystrophies.
Domínguez-Serrano FB, Jiménez-López E, Ramos Jiménez M, Ponte-Zuñiga B, Gómez-Escobar A, Díaz-Granda MJ, Gutiérrez-Sánchez E, Morillo-Sánchez MJ, Menéndez-de-León C, Rodríguez-de-la-Rúa-Franch E
Arch Soc Esp Oftalmol (Engl Ed) 2019 Apr;94(4):160-164. Epub 2019 Jan 30 doi: 10.1016/j.oftal.2018.12.009. PMID: 30711256
Transcription map of Xq27: candidates for several X-linked diseases.
Zucchi I, Jones J, Affer M, Montagna C, Redolfi E, Susani L, Vezzoni P, Parvari R, Schlessinger D, Whyte MP, Mumm S
Genomics 1999 Apr 15;57(2):209-18. doi: 10.1006/geno.1999.5768. PMID: 10198160

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