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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.
See: Feature record | Search on this feature
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).
See: Feature record | Search on this feature
Attenuation of retinal blood vessels
MedGen UID:
480605
•Concept ID:
C3278975
•
Finding
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
Undetectable light- and dark-adapted electroretinogram
MedGen UID:
867212
•Concept ID:
C4021570
•
Finding
Absence of the combined rod-and-cone response on electroretinogram.
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

Genotype and phenotype characteristics of RHO-associated retinitis pigmentosa in the Japanese population.
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
Fetal ascites in third trimester as novel prenatal finding in Bardet-Biedl syndrome and subsequent unaffected live birth assisted by preimplantation genetic diagnosis.
Ma GC, Lim ZW, Lee MH, Chang SP, Chang TY, Chen M
Ultrasound Obstet Gynecol 2023 May;61(5):649-651. doi: 10.1002/uog.26114. PMID: 36349907
Unmasking a recessive allele by a deletion: Early prenatal diagnosis of Bardet-Biedl syndrome in a Chinese family.
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

A Retrospective Longitudinal Study of 460 Patients with ABCA4-Associated Retinal Disease.
Fenner BJ, Whitmore SS, DeLuca AP, Andorf JL, Daggett HT, Luse MA, Haefeli LM, Riley JB, Critser DB, Wilkinson ME, Dumitrescu AV, Drack AV, Boyce TM, Russell JF, Binkley EM, Sohn EH, Russell SR, Boldt HC, Mullins RF, Tucker BA, Scheetz TE, Han IC, Stone EM
Ophthalmology 2024 Aug;131(8):985-997. Epub 2024 Feb 1 doi: 10.1016/j.ophtha.2024.01.035. PMID: 38309476Free PMC Article
Progression of Pentosan-Polysulfate Sodium-Associated Retinopathy: Intermediate Follow-Up.
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
Efficacy and safety of setmelanotide, a melanocortin-4 receptor agonist, in patients with Bardet-Biedl syndrome and Alström syndrome: a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial with an open-label period.
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
The role of splicing factors in retinitis pigmentosa: links to cilia.
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
Bardet-Biedl syndrome.
Steiner PA
J Am Optom Assoc 1990 Nov;61(11):852-5. PMID: 2081829

Diagnosis

Efficacy and safety of setmelanotide, a melanocortin-4 receptor agonist, in patients with Bardet-Biedl syndrome and Alström syndrome: a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial with an open-label period.
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
Decoding retinitis pigmentosa.
Natarajan S
Indian J Ophthalmol 2013 Mar;61(3):91-4. doi: 10.4103/0301-4738.109372. PMID: 23514641Free PMC Article
Polydactyly and hypertension.
Isik D, Bulut O, Sunay M, Bekerecioglu M
Ann Plast Surg 2008 Nov;61(5):511-2. doi: 10.1097/SAP.0b013e31816d82ab. PMID: 18948777
Bardet-Biedl syndrome.
Steiner PA
J Am Optom Assoc 1990 Nov;61(11):852-5. PMID: 2081829
Pseudoretinitis pigmentosa.
McCulloch D, Cummings RW
Am J Optom Physiol Opt 1984 Jan;61(1):56-60. doi: 10.1097/00006324-198401000-00011. PMID: 6703002

Therapy

Progression of Pentosan-Polysulfate Sodium-Associated Retinopathy: Intermediate Follow-Up.
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
Efficacy and safety of setmelanotide, a melanocortin-4 receptor agonist, in patients with Bardet-Biedl syndrome and Alström syndrome: a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial with an open-label period.
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
Vitamin A and fish oils for preventing the progression of retinitis pigmentosa.
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
The effect of intravitreal bevacizumab in a rare case of retinal dystrophy with secondary cystoid macular edema.
Macovei ML, Nica MA
Rom J Ophthalmol 2017 Apr-Jun;61(2):123-127. doi: 10.22336/rjo.2017.23. PMID: 29450385Free PMC Article
Polydactyly and hypertension.
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

A Retrospective Longitudinal Study of 460 Patients with ABCA4-Associated Retinal Disease.
Fenner BJ, Whitmore SS, DeLuca AP, Andorf JL, Daggett HT, Luse MA, Haefeli LM, Riley JB, Critser DB, Wilkinson ME, Dumitrescu AV, Drack AV, Boyce TM, Russell JF, Binkley EM, Sohn EH, Russell SR, Boldt HC, Mullins RF, Tucker BA, Scheetz TE, Han IC, Stone EM
Ophthalmology 2024 Aug;131(8):985-997. Epub 2024 Feb 1 doi: 10.1016/j.ophtha.2024.01.035. PMID: 38309476Free PMC Article
Progression of Pentosan-Polysulfate Sodium-Associated Retinopathy: Intermediate Follow-Up.
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
Cataract surgery in retinitis pigmentosa.
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
Usher's syndrome type 3 in Finland.
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
Causes of blindness and partial sight in the Bradford Metropolitan District from 1980 to 1985.
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

A Retrospective Longitudinal Study of 460 Patients with ABCA4-Associated Retinal Disease.
Fenner BJ, Whitmore SS, DeLuca AP, Andorf JL, Daggett HT, Luse MA, Haefeli LM, Riley JB, Critser DB, Wilkinson ME, Dumitrescu AV, Drack AV, Boyce TM, Russell JF, Binkley EM, Sohn EH, Russell SR, Boldt HC, Mullins RF, Tucker BA, Scheetz TE, Han IC, Stone EM
Ophthalmology 2024 Aug;131(8):985-997. Epub 2024 Feb 1 doi: 10.1016/j.ophtha.2024.01.035. PMID: 38309476Free PMC Article
Genotype and phenotype characteristics of RHO-associated retinitis pigmentosa in the Japanese population.
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
Cataract surgery in retinitis pigmentosa.
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
Vitamin A and fish oils for preventing the progression of retinitis pigmentosa.
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
Older mothers are not at risk of having grandchildren with sporadic mtDNA deletions.
Elson JL, Apabhai S, Gorman G, Whittaker RG, Krishnan KJ
Genet Med 2010 May;12(5):313-4. doi: 10.1097/GIM.0b013e3181da76e3. PMID: 20474085

Recent systematic reviews

Genotype-phenotype associations in Alström syndrome: a systematic review and meta-analysis.
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
Vitamin A and fish oils for preventing the progression of retinitis pigmentosa.
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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