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Retinitis pigmentosa 61(RP61)

MedGen UID:
481671
Concept ID:
C3280041
Disease or Syndrome
Synonym: RP61
 
Gene (location): CLRN1 (3q25.1)
 
Monarch Initiative: MONDO:0013610
OMIM®: 614180

Definition

Retinitis pigmentosa-61 (RP61) is an autosomal recessive photoreceptor degenerative disorder initially characterized by impairment of night vision and midperipheral visual field loss. Bone spicule pigmentation in the retinal periphery is present, and loss of rod function is detected by electroretinography (ERG) (Khan et al., 2011). For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa (RP), see 268000. [from OMIM]

Clinical features

From HPO
Night blindness
MedGen UID:
10349
Concept ID:
C0028077
Disease or Syndrome
Inability to see well at night or in poor light.
Bone spicule pigmentation of the retina
MedGen UID:
323029
Concept ID:
C1836926
Finding
Pigment migration into the retina in a bone-spicule configuration (resembling the nucleated cells within the lacuna of bone).
Attenuation of retinal blood vessels
MedGen UID:
480605
Concept ID:
C3278975
Finding
Visual impairment
MedGen UID:
777085
Concept ID:
C3665347
Finding
Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.
Undetectable light- and dark-adapted electroretinogram
MedGen UID:
867212
Concept ID:
C4021570
Finding
Absence of the combined rod-and-cone response on electroretinogram.
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

Bea-Mascato B, Valverde D
J Med Genet 2023 Dec 21;61(1):18-26. doi: 10.1136/jmg-2023-109175. PMID: 37321834Free PMC Article
Sakai D, Hiraoka M, Matsuzaki M, Yokota S, Hirami Y, Onishi A, Nakamura M, Takahashi M, Kurimoto Y, Maeda A
Jpn J Ophthalmol 2023 Mar;67(2):138-148. Epub 2023 Jan 17 doi: 10.1007/s10384-023-00975-y. PMID: 36648560
Dassie F, Lorusso R, Benavides-Varela S, Milan G, Favaretto F, Callus E, Cagnin S, Reggiani F, Minervini G, Tosatto S, Vettor R, Semenza C, Maffei P
Am J Med Genet A 2021 Mar;185(3):732-742. Epub 2021 Jan 7 doi: 10.1002/ajmg.a.62029. PMID: 33410256

Recent clinical studies

Etiology

Haqq AM, Chung WK, Dollfus H, Haws RM, Martos-Moreno GÁ, Poitou C, Yanovski JA, Mittleman RS, Yuan G, Forsythe E, Clément K, Argente J
Lancet Diabetes Endocrinol 2022 Dec;10(12):859-868. Epub 2022 Nov 7 doi: 10.1016/S2213-8587(22)00277-7. PMID: 36356613Free PMC Article
Ortega JT, Jastrzebska B
Adv Exp Med Biol 2022;1371:61-77. doi: 10.1007/5584_2021_682. PMID: 34962636
Chatterjee S, Agrawal D, Agrawal D, Parchand SM, Sahu A
Indian J Ophthalmol 2021 Jul;69(7):1753-1757. doi: 10.4103/ijo.IJO_2916_20. PMID: 34146021Free PMC Article
Maxwell DW, O'Keefe RT, Roy S, Hentges KE
Biochem Soc Trans 2021 Jun 30;49(3):1221-1231. doi: 10.1042/BST20200798. PMID: 34060618
Xu M, Zhai Y, MacDonald IM
Invest Ophthalmol Vis Sci 2020 Jun 3;61(6):56. doi: 10.1167/iovs.61.6.56. PMID: 32589198Free PMC Article

Diagnosis

Haqq AM, Chung WK, Dollfus H, Haws RM, Martos-Moreno GÁ, Poitou C, Yanovski JA, Mittleman RS, Yuan G, Forsythe E, Clément K, Argente J
Lancet Diabetes Endocrinol 2022 Dec;10(12):859-868. Epub 2022 Nov 7 doi: 10.1016/S2213-8587(22)00277-7. PMID: 36356613Free PMC Article
Chatterjee S, Agrawal D, Agrawal D, Parchand SM, Sahu A
Indian J Ophthalmol 2021 Jul;69(7):1753-1757. doi: 10.4103/ijo.IJO_2916_20. PMID: 34146021Free PMC Article
Xu M, Zhai Y, MacDonald IM
Invest Ophthalmol Vis Sci 2020 Jun 3;61(6):56. doi: 10.1167/iovs.61.6.56. PMID: 32589198Free PMC Article
Natarajan S
Indian J Ophthalmol 2013 Mar;61(3):91-4. doi: 10.4103/0301-4738.109372. PMID: 23514641Free PMC Article
Bird AC
Br J Ophthalmol 1975 Apr;59(4):177-99. doi: 10.1136/bjo.59.4.177. PMID: 1138842Free PMC Article

Therapy

Haqq AM, Chung WK, Dollfus H, Haws RM, Martos-Moreno GÁ, Poitou C, Yanovski JA, Mittleman RS, Yuan G, Forsythe E, Clément K, Argente J
Lancet Diabetes Endocrinol 2022 Dec;10(12):859-868. Epub 2022 Nov 7 doi: 10.1016/S2213-8587(22)00277-7. PMID: 36356613Free PMC Article
Schwartz SG, Wang X, Chavis P, Kuriyan AE, Abariga SA
Cochrane Database Syst Rev 2020 Jun 18;6(6):CD008428. doi: 10.1002/14651858.CD008428.pub3. PMID: 32573764Free PMC Article
Mansour AM, Sheheitli H, Kucukerdonmez C, Sisk RA, Moura R, Moschos MM, Lima LH, Al-Shaar L, Arevalo JF, Maia M, Foster RE, Kayikcioglu O, Kozak I, Kurup S, Zegarra H, Gallego-Pinazo R, Hamam RN, Bejjani RA, Cinar E, Erakgün ET, Kimura A, Teixeira A
Retina 2018 Feb;38(2):416-423. doi: 10.1097/IAE.0000000000001542. PMID: 28221257
AlSaqr AM, Dickinson CM
Clin Exp Optom 2017 Jan;100(1):61-68. Epub 2016 Aug 29 doi: 10.1111/cxo.12436. PMID: 27571766
Isik D, Bulut O, Sunay M, Bekerecioglu M
Ann Plast Surg 2008 Nov;61(5):511-2. doi: 10.1097/SAP.0b013e31816d82ab. PMID: 18948777

Prognosis

Nakamura S, Fujiwara K, Yoshida N, Murakami Y, Shimokawa S, Koyanagi Y, Ikeda Y, Sonoda KH
Ophthalmol Retina 2022 Apr;6(4):268-272. Epub 2021 Dec 16 doi: 10.1016/j.oret.2021.12.010. PMID: 34923176
Chatterjee S, Agrawal D, Agrawal D, Parchand SM, Sahu A
Indian J Ophthalmol 2021 Jul;69(7):1753-1757. doi: 10.4103/ijo.IJO_2916_20. PMID: 34146021Free PMC Article
Xu M, Zhai Y, MacDonald IM
Invest Ophthalmol Vis Sci 2020 Jun 3;61(6):56. doi: 10.1167/iovs.61.6.56. PMID: 32589198Free PMC Article
Schwartz SG, Wang X, Chavis P, Kuriyan AE, Abariga SA
Cochrane Database Syst Rev 2020 Jun 18;6(6):CD008428. doi: 10.1002/14651858.CD008428.pub3. PMID: 32573764Free PMC Article
Parfrey PS, Davidson WS, Green JS
Kidney Int 2002 Jun;61(6):1925-34. doi: 10.1046/j.1523-1755.2002.00305.x. PMID: 12028433

Clinical prediction guides

Sakai D, Hiraoka M, Matsuzaki M, Yokota S, Hirami Y, Onishi A, Nakamura M, Takahashi M, Kurimoto Y, Maeda A
Jpn J Ophthalmol 2023 Mar;67(2):138-148. Epub 2023 Jan 17 doi: 10.1007/s10384-023-00975-y. PMID: 36648560
Chatterjee S, Agrawal D, Agrawal D, Parchand SM, Sahu A
Indian J Ophthalmol 2021 Jul;69(7):1753-1757. doi: 10.4103/ijo.IJO_2916_20. PMID: 34146021Free PMC Article
Schwartz SG, Wang X, Chavis P, Kuriyan AE, Abariga SA
Cochrane Database Syst Rev 2020 Jun 18;6(6):CD008428. doi: 10.1002/14651858.CD008428.pub3. PMID: 32573764Free PMC Article
Lee SH, Yu HG, Seo JM, Moon SW, Moon JW, Kim SJ, Chung H
J Korean Med Sci 2010 Jun;25(6):918-23. Epub 2010 May 24 doi: 10.3346/jkms.2010.25.6.918. PMID: 20514315Free PMC Article
Parfrey PS, Davidson WS, Green JS
Kidney Int 2002 Jun;61(6):1925-34. doi: 10.1046/j.1523-1755.2002.00305.x. PMID: 12028433

Recent systematic reviews

Bea-Mascato B, Valverde D
J Med Genet 2023 Dec 21;61(1):18-26. doi: 10.1136/jmg-2023-109175. PMID: 37321834Free PMC Article
Schwartz SG, Wang X, Chavis P, Kuriyan AE, Abariga SA
Cochrane Database Syst Rev 2020 Jun 18;6(6):CD008428. doi: 10.1002/14651858.CD008428.pub3. PMID: 32573764Free PMC Article

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