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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
Jing XY, Jiang F, Li DZ
Congenit Anom (Kyoto) 2021 Jul;61(4):138-139. Epub 2021 Feb 23 doi: 10.1111/cga.12413. PMID: 33580594

Recent clinical studies

Etiology

Leung EH, Levie-Sprick A, Sharma S, Lee GD, Cho H, Yee DC, Mukkamala K
Ophthalmic Surg Lasers Imaging Retina 2023 Jul;54(7):388-394. Epub 2023 Jun 1 doi: 10.3928/23258160-20230522-02. PMID: 37310751
Ortega JT, Jastrzebska B
Adv Exp Med Biol 2022;1371:61-77. doi: 10.1007/5584_2021_682. PMID: 34962636
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
Clemson CM, Tzekov R, Krebs M, Checchi JM, Bigelow C, Kaushal S
Br J Ophthalmol 2011 Jan;95(1):89-93. Epub 2010 Jul 20 doi: 10.1136/bjo.2009.175356. PMID: 20647559
Steiner PA
J Am Optom Assoc 1990 Nov;61(11):852-5. PMID: 2081829

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
Natarajan S
Indian J Ophthalmol 2013 Mar;61(3):91-4. doi: 10.4103/0301-4738.109372. PMID: 23514641Free PMC Article
Isik D, Bulut O, Sunay M, Bekerecioglu M
Ann Plast Surg 2008 Nov;61(5):511-2. doi: 10.1097/SAP.0b013e31816d82ab. PMID: 18948777
Steiner PA
J Am Optom Assoc 1990 Nov;61(11):852-5. PMID: 2081829
McCulloch D, Cummings RW
Am J Optom Physiol Opt 1984 Jan;61(1):56-60. doi: 10.1097/00006324-198401000-00011. PMID: 6703002

Therapy

Leung EH, Levie-Sprick A, Sharma S, Lee GD, Cho H, Yee DC, Mukkamala K
Ophthalmic Surg Lasers Imaging Retina 2023 Jul;54(7):388-394. Epub 2023 Jun 1 doi: 10.3928/23258160-20230522-02. PMID: 37310751
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
Clemson CM, Tzekov R, Krebs M, Checchi JM, Bigelow C, Kaushal S
Br J Ophthalmol 2011 Jan;95(1):89-93. Epub 2010 Jul 20 doi: 10.1136/bjo.2009.175356. PMID: 20647559
Isik D, Bulut O, Sunay M, Bekerecioglu M
Ann Plast Surg 2008 Nov;61(5):511-2. doi: 10.1097/SAP.0b013e31816d82ab. PMID: 18948777
Vingolo EM, Pelaia P, Forte R, Rocco M, Giusti C, Rispoli E
Doc Ophthalmol 1998-1999;97(1):33-9. doi: 10.1023/a:1002015317479. PMID: 10710240

Prognosis

Leung EH, Levie-Sprick A, Sharma S, Lee GD, Cho H, Yee DC, Mukkamala K
Ophthalmic Surg Lasers Imaging Retina 2023 Jul;54(7):388-394. Epub 2023 Jun 1 doi: 10.3928/23258160-20230522-02. PMID: 37310751
Islam MS, Mia MAK, Rahman MS, Arefin MS, Dhar PK, Koshiba T
BMC Bioinformatics 2021 Sep 11;22(1):435. doi: 10.1186/s12859-021-04341-y. PMID: 34511072Free PMC Article
Jacobson SG, Cideciyan AV, Gibbs D, Sumaroka A, Roman AJ, Aleman TS, Schwartz SB, Olivares MB, Russell RC, Steinberg JD, Kenna MA, Kimberling WJ, Rehm HL, Williams DS
Invest Ophthalmol Vis Sci 2011 Oct 7;52(11):7924-36. doi: 10.1167/iovs.11-8313. PMID: 21873662Free PMC Article
Pakarinen L, Karjalainen S, Simola KO, Laippala P, Kaitalo H
Laryngoscope 1995 Jun;105(6):613-7. doi: 10.1288/00005537-199506000-00010. PMID: 7769945
Yap M, Weatherill J
Ophthalmic Physiol Opt 1989 Jul;9(3):289-92. doi: 10.1111/j.1475-1313.1989.tb00908.x. PMID: 2622670

Clinical prediction guides

Islam MS, Mia MAK, Rahman MS, Arefin MS, Dhar PK, Koshiba T
BMC Bioinformatics 2021 Sep 11;22(1):435. doi: 10.1186/s12859-021-04341-y. PMID: 34511072Free PMC Article
Igarashi N, Matsuura M, Hashimoto Y, Hirasawa K, Murata H, Inoue T, Ryo O, Aihara M, Asaoka R
PLoS One 2016;11(11):e0166666. Epub 2016 Nov 28 doi: 10.1371/journal.pone.0166666. PMID: 27893769Free PMC Article
Brinckman DD, Keppler-Noreuil KM, Blumhorst C, Biesecker LG, Sapp JC, Johnston JJ, Wiggs EA
Am J Med Genet A 2013 Dec;161A(12):2964-71. Epub 2013 Nov 5 doi: 10.1002/ajmg.a.36245. PMID: 24194441Free PMC Article
Jacobson SG, Cideciyan AV, Gibbs D, Sumaroka A, Roman AJ, Aleman TS, Schwartz SB, Olivares MB, Russell RC, Steinberg JD, Kenna MA, Kimberling WJ, Rehm HL, Williams DS
Invest Ophthalmol Vis Sci 2011 Oct 7;52(11):7924-36. doi: 10.1167/iovs.11-8313. PMID: 21873662Free PMC Article
Jangra D, Ganesh A, Thackray R, Austin L, Ulster A, Sutherland J, Levin AV
Ophthalmic Genet 2007 Mar;28(1):25-30. doi: 10.1080/13816810701201930. PMID: 17454744

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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