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Retinitis pigmentosa 40(RP40)

MedGen UID:
462457
•Concept ID:
C3151107
•
Disease or Syndrome
Synonym: RP40
 
Gene (location): PDE6B (4p16.3)
 
Monarch Initiative: MONDO:0013429
OMIM®: 613801

Definition

Any retinitis pigmentosa in which the cause of the disease is a mutation in the PDE6B gene. [from MONDO]

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
Cataract
MedGen UID:
39462
•Concept ID:
C0086543
•
Disease or Syndrome
A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.
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
Abnormal light- and dark-adapted electroretinogram
MedGen UID:
462461
•Concept ID:
C3151111
•
Finding
An abnormality of the combined rod-and-cone response on electroretinogram.
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
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

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Management of Retinitis Pigmentosa via Platelet-Rich Plasma or Combination with Electromagnetic Stimulation: Retrospective Analysis of 1-Year Results.
Arslan U, Özmert E
Adv Ther 2020 May;37(5):2390-2412. Epub 2020 Apr 18 doi: 10.1007/s12325-020-01308-y. PMID: 32303913

Recent clinical studies

Etiology

An update on retinal prostheses.
Ayton LN, Barnes N, Dagnelie G, Fujikado T, Goetz G, Hornig R, Jones BW, Muqit MMK, Rathbun DL, Stingl K, Weiland JD, Petoe MA
Clin Neurophysiol 2020 Jun;131(6):1383-1398. Epub 2019 Dec 10 doi: 10.1016/j.clinph.2019.11.029. PMID: 31866339Free PMC Article
VISUAL IMPAIRMENT IN RETINITIS PIGMENTOSA.
Vezinaw CM, Fishman GA, McAnany JJ
Retina 2020 Aug;40(8):1630-1633. doi: 10.1097/IAE.0000000000002649. PMID: 31568063
MT-ATP6 mitochondrial disease variants: Phenotypic and biochemical features analysis in 218 published cases and cohort of 14 new cases.
Ganetzky RD, Stendel C, McCormick EM, Zolkipli-Cunningham Z, Goldstein AC, Klopstock T, Falk MJ
Hum Mutat 2019 May;40(5):499-515. Epub 2019 Mar 4 doi: 10.1002/humu.23723. PMID: 30763462Free PMC Article
Congenital disorders of glycosylation.
Jaeken J
Handb Clin Neurol 2013;113:1737-43. doi: 10.1016/B978-0-444-59565-2.00044-7. PMID: 23622397
Nutrition and retinal degenerations.
Berson EL
Int Ophthalmol Clin 2000 Fall;40(4):93-111. doi: 10.1097/00004397-200010000-00008. PMID: 11064860

Diagnosis

Prevalence of primary angle-closure disease in retinitis pigmentosa.
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
MT-ATP6 mitochondrial disease variants: Phenotypic and biochemical features analysis in 218 published cases and cohort of 14 new cases.
Ganetzky RD, Stendel C, McCormick EM, Zolkipli-Cunningham Z, Goldstein AC, Klopstock T, Falk MJ
Hum Mutat 2019 May;40(5):499-515. Epub 2019 Mar 4 doi: 10.1002/humu.23723. PMID: 30763462Free PMC Article
Vitreous cysts in patients with retinitis pigmentosa.
Yoshida N, Ikeda Y, Murakami Y, Nakatake S, Tachibana T, Notomi S, Hisatomi T, Ishibashi T
Jpn J Ophthalmol 2015 Nov;59(6):373-7. Epub 2015 Aug 29 doi: 10.1007/s10384-015-0405-1. PMID: 26314744
Congenital disorders of glycosylation.
Jaeken J
Handb Clin Neurol 2013;113:1737-43. doi: 10.1016/B978-0-444-59565-2.00044-7. PMID: 23622397
Retinitis pigmentosa.
Hamel C
Orphanet J Rare Dis 2006 Oct 11;1:40. doi: 10.1186/1750-1172-1-40. PMID: 17032466Free PMC Article

Therapy

Efficacy of topical brinzolamide in children with retinal dystrophies.
Scruggs BA, Chen CV, Pfeifer W, Wiley JS, Wang K, Drack AV
Ophthalmic Genet 2019 Aug;40(4):350-358. Epub 2019 Sep 9 doi: 10.1080/13816810.2019.1660381. PMID: 31496370Free PMC Article
Outcomes of Ahmed glaucoma valve implantation for steroid-induced elevated intraocular pressure in patients with retinitis pigmentosa.
Eksioglu U, Oktem C, Sungur G, Yakin M, Demirok G, Ornek F
Int Ophthalmol 2018 Oct;38(5):1833-1838. Epub 2017 Jul 21 doi: 10.1007/s10792-017-0657-5. PMID: 28733929
Therapeutic efficacy of topical unoprostone isopropyl in retinitis pigmentosa.
Akiyama M, Ikeda Y, Yoshida N, Notomi S, Murakami Y, Hisatomi T, Enaida H, Ishibashi T
Acta Ophthalmol 2014 May;92(3):e229-34. doi: 10.1111/aos.12293. PMID: 24868583
The aetiology of optic atrophy in Nigerians--a general hospital clinic study.
Oluleye TS, Ajaiyeoba AI, Fafowora OF, Olusanya BA
Int J Clin Pract 2005 Aug;59(8):950-2. doi: 10.1111/j.1742-1241.2005.00541.x. PMID: 16033618
Discrimination of spatial displacements by patients with retinitis pigmentosa.
Alexander KR, Derlacki DJ, Xie W, Fishman GA, Szlyk JP
Vision Res 1998 Apr;38(8):1171-81. doi: 10.1016/s0042-6989(97)00235-6. PMID: 9666975

Prognosis

Neurosurgical intervention for the Meckel-Gruber Syndrome: A systematic review.
Junior JHMF, Junior SP, Pustilnik HN, de Almeida Leão L, da Paz MGDS, Araujo TB, de Deus FOG, Alcântara T, Dourado JC, de Avellar LM
Childs Nerv Syst 2024 Jul;40(7):2161-2168. Epub 2024 Mar 9 doi: 10.1007/s00381-024-06346-3. PMID: 38459147
Structural and Pathogenic Impacts of ABCA4 Variants in Retinal Degenerations-An In-Silico Study.
Cevik S, Biswas SB, Biswas-Fiss EE
Int J Mol Sci 2023 Apr 14;24(8) doi: 10.3390/ijms24087280. PMID: 37108442Free PMC Article
Spatial Characteristics of Peripheral Visual Islands in Retinitis Pigmentosa.
Patel TP, Vongsachang H, Schilling A, Kong X, Singh MS
Invest Ophthalmol Vis Sci 2022 Feb 1;63(2):26. doi: 10.1167/iovs.63.2.26. PMID: 35175279Free PMC Article
Retinitis pigmentosa.
Hamel C
Orphanet J Rare Dis 2006 Oct 11;1:40. doi: 10.1186/1750-1172-1-40. PMID: 17032466Free PMC Article
Nutrition and retinal degenerations.
Berson EL
Int Ophthalmol Clin 2000 Fall;40(4):93-111. doi: 10.1097/00004397-200010000-00008. PMID: 11064860

Clinical prediction guides

Generation and Characterization of a Zebrafish Model for ADGRV1-Associated Retinal Dysfunction Using CRISPR/Cas9 Genome Editing Technology.
Stemerdink M, Broekman S, Peters T, Kremer H, de Vrieze E, van Wijk E
Cells 2023 Jun 10;12(12) doi: 10.3390/cells12121598. PMID: 37371069Free PMC Article
Mouse Models of Inherited Retinal Degeneration with Photoreceptor Cell Loss.
Collin GB, Gogna N, Chang B, Damkham N, Pinkney J, Hyde LF, Stone L, Naggert JK, Nishina PM, Krebs MP
Cells 2020 Apr 10;9(4) doi: 10.3390/cells9040931. PMID: 32290105Free PMC Article
RPGR-Associated Dystrophies: Clinical, Genetic, and Histopathological Features.
Nguyen XT, Talib M, van Schooneveld MJ, Brinks J, Ten Brink J, Florijn RJ, Wijnholds J, Verdijk RM, Bergen AA, Boon CJF
Int J Mol Sci 2020 Jan 28;21(3) doi: 10.3390/ijms21030835. PMID: 32012938Free PMC Article
MT-ATP6 mitochondrial disease variants: Phenotypic and biochemical features analysis in 218 published cases and cohort of 14 new cases.
Ganetzky RD, Stendel C, McCormick EM, Zolkipli-Cunningham Z, Goldstein AC, Klopstock T, Falk MJ
Hum Mutat 2019 May;40(5):499-515. Epub 2019 Mar 4 doi: 10.1002/humu.23723. PMID: 30763462Free PMC Article
Vitreous cysts in patients with retinitis pigmentosa.
Yoshida N, Ikeda Y, Murakami Y, Nakatake S, Tachibana T, Notomi S, Hisatomi T, Ishibashi T
Jpn J Ophthalmol 2015 Nov;59(6):373-7. Epub 2015 Aug 29 doi: 10.1007/s10384-015-0405-1. PMID: 26314744

Recent systematic reviews

Neurosurgical intervention for the Meckel-Gruber Syndrome: A systematic review.
Junior JHMF, Junior SP, Pustilnik HN, de Almeida Leão L, da Paz MGDS, Araujo TB, de Deus FOG, Alcântara T, Dourado JC, de Avellar LM
Childs Nerv Syst 2024 Jul;40(7):2161-2168. Epub 2024 Mar 9 doi: 10.1007/s00381-024-06346-3. PMID: 38459147
The use of augmented reality and virtual reality for visual field expansion and visual acuity improvement in low vision rehabilitation: a systematic review.
Pur DR, Lee-Wing N, Bona MD
Graefes Arch Clin Exp Ophthalmol 2023 Jun;261(6):1743-1755. Epub 2023 Jan 12 doi: 10.1007/s00417-022-05972-4. PMID: 36633669
Genetics of Usher Syndrome: New Insights From a Meta-analysis.
Jouret G, Poirsier C, Spodenkiewicz M, Jaquin C, Gouy E, Arndt C, Labrousse M, Gaillard D, Doco-Fenzy M, Lebre AS
Otol Neurotol 2019 Jan;40(1):121-129. doi: 10.1097/MAO.0000000000002054. PMID: 30531642

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