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Retinitis pigmentosa 71(RP71)

MedGen UID:
897209
•Concept ID:
C4225342
•
Disease or Syndrome
Synonym: RP71
 
Gene (location): IFT172 (2p23.3)
 
Monarch Initiative: MONDO:0014618
OMIM®: 616394

Definition

Any retinitis pigmentosa in which the cause of the disease is a mutation in the IFT172 gene. [from MONDO]

Clinical features

From HPO
Scoliosis
MedGen UID:
11348
•Concept ID:
C0036439
•
Disease or Syndrome
The presence of an abnormal lateral curvature of the spine.
See: Feature record | Search on this feature
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
Optic disc drusen
MedGen UID:
14495
•Concept ID:
C0029128
•
Disease or Syndrome
Optic disc drusen are acellular, calcified deposits within the optic nerve head. Optic disc drusen are congenital and developmental anomalies of the optic nerve head, representing hyaline-containing bodies that, over time, appear as elevated, lumpy irregularities on the anterior portion of the optic nerve.
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Optic disc pallor
MedGen UID:
108218
•Concept ID:
C0554970
•
Finding
A pale yellow discoloration of the optic disc (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression.
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
Perifoveal ring of hyperautofluorescence
MedGen UID:
892724
•Concept ID:
C4073099
•
Finding
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.
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Professional guidelines

PubMed

EYS is a major gene involved in retinitis pigmentosa in Japan: genetic landscapes revealed by stepwise genetic screening.
Numa S, Oishi A, Higasa K, Oishi M, Miyata M, Hasegawa T, Ikeda HO, Otsuka Y, Matsuda F, Tsujikawa A
Sci Rep 2020 Nov 27;10(1):20770. doi: 10.1038/s41598-020-77558-1. PMID: 33247286Free PMC Article
Characteristics of genotype and phenotype in Chinese patients with Bardet-Biedl syndrome.
Tao T, Wang L, Chong W, Yang L, Li G
Int Ophthalmol 2020 Sep;40(9):2325-2343. Epub 2020 May 24 doi: 10.1007/s10792-020-01415-3. PMID: 32448990
Genetic testing in patients with retinitis pigmentosa: Features of unsolved cases.
Birtel J, Gliem M, Oishi A, Müller PL, Herrmann P, Holz FG, Mangold E, Knapp M, Bolz HJ, Charbel Issa P
Clin Exp Ophthalmol 2019 Aug;47(6):779-786. Epub 2019 May 8 doi: 10.1111/ceo.13516. PMID: 30977268

Recent clinical studies

Etiology

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
Unique Variant Spectrum in a Jordanian Cohort with Inherited Retinal Dystrophies.
Azab B, Dardas Z, Aburizeg D, Al-Bdour M, Abu-Ameerh M, Saleh T, Barham R, Maswadi R, Ababneh NA, Alsalem M, Zouk H, Amr S, Awidi A
Genes (Basel) 2021 Apr 19;12(4) doi: 10.3390/genes12040593. PMID: 33921607Free 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
Ophthalmoplegia in Mitochondrial Disease.
Lee SJ, Na JH, Han J, Lee YM
Yonsei Med J 2018 Dec;59(10):1190-1196. doi: 10.3349/ymj.2018.59.10.1190. PMID: 30450853Free PMC Article
Quantifying Fundus Autofluorescence in Patients With Retinitis Pigmentosa.
Schuerch K, Woods RL, Lee W, Duncker T, Delori FC, Allikmets R, Tsang SH, Sparrow JR
Invest Ophthalmol Vis Sci 2017 Mar 1;58(3):1843-1855. doi: 10.1167/iovs.16-21302. PMID: 28358950Free PMC Article

Diagnosis

Unique Variant Spectrum in a Jordanian Cohort with Inherited Retinal Dystrophies.
Azab B, Dardas Z, Aburizeg D, Al-Bdour M, Abu-Ameerh M, Saleh T, Barham R, Maswadi R, Ababneh NA, Alsalem M, Zouk H, Amr S, Awidi A
Genes (Basel) 2021 Apr 19;12(4) doi: 10.3390/genes12040593. PMID: 33921607Free 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
New technologies for developing second generation retinal prostheses.
Benfenati F, Lanzani G
Lab Anim (NY) 2018 Mar;47(3):71-75. Epub 2018 Feb 26 doi: 10.1038/s41684-018-0003-1. PMID: 29483694
Quantifying Fundus Autofluorescence in Patients With Retinitis Pigmentosa.
Schuerch K, Woods RL, Lee W, Duncker T, Delori FC, Allikmets R, Tsang SH, Sparrow JR
Invest Ophthalmol Vis Sci 2017 Mar 1;58(3):1843-1855. doi: 10.1167/iovs.16-21302. PMID: 28358950Free PMC Article
Taurodontism: A minor diagnostic criterion in Laurence-Moon/Bardet-Biedl syndromes.
Andersson EM, Axelsson S, Gjølstad LF, Storhaug K
Acta Odontol Scand 2013 Nov;71(6):1671-4. Epub 2013 May 3 doi: 10.3109/00016357.2013.794389. PMID: 23638763

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
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 Argus II prosthesis facilitates reaching and grasping tasks: a case series.
Kotecha A, Zhong J, Stewart D, da Cruz L
BMC Ophthalmol 2014 May 23;14:71. doi: 10.1186/1471-2415-14-71. PMID: 24885164Free PMC Article
Does hyperbaric oxygen (HBO) delivery rescue retinal photoreceptors in retinitis pigmentosa?
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
Full-field electroretinograms during general anesthesia in normal children compared to examination with topical anesthesia.
Andréasson S, Tornqvist K, Ehinger B
Acta Ophthalmol (Copenh) 1993 Aug;71(4):491-5. doi: 10.1111/j.1755-3768.1993.tb04624.x. PMID: 8249580

Prognosis

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
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
Ophthalmoplegia in Mitochondrial Disease.
Lee SJ, Na JH, Han J, Lee YM
Yonsei Med J 2018 Dec;59(10):1190-1196. doi: 10.3349/ymj.2018.59.10.1190. PMID: 30450853Free PMC Article
Quantifying Fundus Autofluorescence in Patients With Retinitis Pigmentosa.
Schuerch K, Woods RL, Lee W, Duncker T, Delori FC, Allikmets R, Tsang SH, Sparrow JR
Invest Ophthalmol Vis Sci 2017 Mar 1;58(3):1843-1855. doi: 10.1167/iovs.16-21302. PMID: 28358950Free PMC Article
BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance.
Katsanis N, Eichers ER, Ansley SJ, Lewis RA, Kayserili H, Hoskins BE, Scambler PJ, Beales PL, Lupski JR
Am J Hum Genet 2002 Jul;71(1):22-9. Epub 2002 May 15 doi: 10.1086/341031. PMID: 12016587Free PMC Article

Clinical prediction guides

Substitution of a single non-coding nucleotide upstream of TMEM216 causes non-syndromic retinitis pigmentosa and is associated with reduced TMEM216 expression.
Malka S, Biswas P, Berry AM, Sangermano R, Ullah M, Lin S, D'Antonio M, Jestin A, Jiao X, Quinodoz M, Sullivan L, Gardner JC, Place EM, Michaelides M, Kaminska K, Mahroo OA, Schiff E, Wright G, Cancellieri F, Vaclavik V, Santos C, Rehman AU, Mehrotra S, Azhar Baig HM, Iqbal M, Ansar M, Santos LC, Sousa AB, Tran VH, Matsui H, Bhatia A, Naeem MA, Akram SJ, Akram J, Riazuddin S, Ayuso C, Pierce EA, Hardcastle AJ, Riazuddin SA, Frazer KA, Hejtmancik JF, Rivolta C, Bujakowska KM, Arno G, Webster AR, Ayyagari R
Am J Hum Genet 2024 Sep 5;111(9):2012-2030. Epub 2024 Aug 26 doi: 10.1016/j.ajhg.2024.07.020. PMID: 39191256Free 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
A novel locus for autosomal dominant cone-rod dystrophy maps to chromosome 10q.
Kamenarova K, Cherninkova S, Romero Durán M, Prescott D, Valdés Sánchez ML, Mitev V, Kremensky I, Kaneva R, Bhattacharya SS, Tournev I, Chakarova C
Eur J Hum Genet 2013 Mar;21(3):338-42. Epub 2012 Aug 29 doi: 10.1038/ejhg.2012.158. PMID: 22929024Free PMC Article
CRB1 mutation spectrum in inherited retinal dystrophies.
den Hollander AI, Davis J, van der Velde-Visser SD, Zonneveld MN, Pierrottet CO, Koenekoop RK, Kellner U, van den Born LI, Heckenlively JR, Hoyng CB, Handford PA, Roepman R, Cremers FP
Hum Mutat 2004 Nov;24(5):355-69. doi: 10.1002/humu.20093. PMID: 15459956
BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance.
Katsanis N, Eichers ER, Ansley SJ, Lewis RA, Kayserili H, Hoskins BE, Scambler PJ, Beales PL, Lupski JR
Am J Hum Genet 2002 Jul;71(1):22-9. Epub 2002 May 15 doi: 10.1086/341031. PMID: 12016587Free PMC Article

Recent systematic reviews

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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      Clinical tests in GTR
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