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Retinitis pigmentosa 29(RP29)

MedGen UID:
393710
Concept ID:
C2677325
Disease or Syndrome
Synonyms: RP 29; RP29
 
Monarch Initiative: MONDO:0012813
OMIM®: 612165

Definition

A retinitis pigmentosa that has material basis in variation in the chromosome region 4q32-q34. [from MONDO]

Clinical features

From HPO
Blindness
MedGen UID:
99138
Concept ID:
C0456909
Disease or Syndrome
Blindness is the condition of lacking visual perception defined as a profound reduction in visual perception. On the 6m visual acuity scale, blindness is defined as less than 3/60. On the 20ft visual acuity scale, blindness is defined as less than 20/400. On the decimal visual acuity scale, blindness is defined as less than 0.05. Blindness is typically characterized by a visual field of no greater than 10 degrees in radius around central fixation.
Attenuation of retinal blood vessels
MedGen UID:
480605
Concept ID:
C3278975
Finding
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.

Professional guidelines

PubMed

Pradhan ZS, Shroff S, Bansod A, Poornachandra B, Shetty A, Devi S, Rao DAS, Puttaiah NK, Rao HL
Indian J Ophthalmol 2022 Jul;70(7):2449-2451. doi: 10.4103/ijo.IJO_3189_21. PMID: 35791130Free PMC Article
Parameswarappa DC, Doctor MB, Natarajan R, Rani PK, Garudadri C, Jalali S, Senthil S
Int Ophthalmol 2022 Oct;42(10):3137-3144. Epub 2022 May 18 doi: 10.1007/s10792-022-02313-6. PMID: 35585370
Dulla K, Slijkerman R, van Diepen HC, Albert S, Dona M, Beumer W, Turunen JJ, Chan HL, Schulkens IA, Vorthoren L, den Besten C, Buil L, Schmidt I, Miao J, Venselaar H, Zang J, Neuhauss SCF, Peters T, Broekman S, Pennings R, Kremer H, Platenburg G, Adamson P, de Vrieze E, van Wijk E
Mol Ther 2021 Aug 4;29(8):2441-2455. Epub 2021 Apr 23 doi: 10.1016/j.ymthe.2021.04.024. PMID: 33895329Free PMC Article

Recent clinical studies

Etiology

Griffith J 3rd, Sioufi K, Wilbanks L, Magrath GN, Say EAT, Lyons MJ, Wilkes M, Pai GS, Peterseim MMW
Genes (Basel) 2022 Aug 20;13(8) doi: 10.3390/genes13081490. PMID: 36011402Free PMC Article

Diagnosis

Griffith J 3rd, Sioufi K, Wilbanks L, Magrath GN, Say EAT, Lyons MJ, Wilkes M, Pai GS, Peterseim MMW
Genes (Basel) 2022 Aug 20;13(8) doi: 10.3390/genes13081490. PMID: 36011402Free PMC Article

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