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Retinitis pigmentosa 62(RP62)

MedGen UID:
481672
•Concept ID:
C3280042
•
Disease or Syndrome
Synonym: RP62
 
Gene (location): MAK (6p24.2)
 
Monarch Initiative: MONDO:0013611
OMIM®: 614181

Definition

Any retinitis pigmentosa in which the cause of the disease is a mutation in the MAK 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
Reduced visual acuity
MedGen UID:
65889
•Concept ID:
C0234632
•
Finding
Diminished clarity of vision.
See: Feature record | Search on this feature
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
Bull eye maculopathy
MedGen UID:
321812
•Concept ID:
C1828210
•
Finding
Progressive maculopathy characterized by concentric regions of hyper- and hypo-pigmentation.
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 field defect
MedGen UID:
854603
•Concept ID:
C3887875
•
Finding
An absolute or relative reduction in the extent of the normal field of vision.
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

Genotypes Predispose Phenotypes-Clinical Features and Genetic Spectrum of ABCA4-Associated Retinal Dystrophies.
Sung YC, Yang CH, Yang CM, Lin CW, Huang DS, Huang YS, Hu FR, Chen PL, Chen TC
Genes (Basel) 2020 Nov 27;11(12) doi: 10.3390/genes11121421. PMID: 33261146Free PMC Article
Prenatal diagnosis and clinical significance of cephalocele-A single institution experience and literature review.
Dąbkowska S, Kucińska-Chahwan A, Beneturska A, Ilnicka A, Nowakowska B, Panek G, Roszkowski T, Bijok J
Prenat Diagn 2020 Apr;40(5):612-617. Epub 2020 Feb 12 doi: 10.1002/pd.5654. PMID: 32003477
Low vision management of retinitis pigmentosa.
Weiss NJ
J Am Optom Assoc 1991 Jan;62(1):42-52. PMID: 1813492

Recent clinical studies

Etiology

A Unified Rule for Binocular Contrast Summation Applies to Normal Vision and Common Eye Diseases.
Xiong YZ, Liu R, Kwon M, Bittner AK, Owsley C, Legge GE
Invest Ophthalmol Vis Sci 2021 Oct 4;62(13):6. doi: 10.1167/iovs.62.13.6. PMID: 34636877Free PMC Article
Molecular Epidemiology in 591 Italian Probands With Nonsyndromic Retinitis Pigmentosa and Usher Syndrome.
Colombo L, Maltese PE, Castori M, El Shamieh S, Zeitz C, Audo I, Zulian A, Marinelli C, Benedetti S, Costantini A, Bressan S, Percio M, Ferri P, Abeshi A, Bertelli M, Rossetti L
Invest Ophthalmol Vis Sci 2021 Feb 1;62(2):13. doi: 10.1167/iovs.62.2.13. PMID: 33576794Free PMC Article
Prenatal diagnosis and clinical significance of cephalocele-A single institution experience and literature review.
Dąbkowska S, Kucińska-Chahwan A, Beneturska A, Ilnicka A, Nowakowska B, Panek G, Roszkowski T, Bijok J
Prenat Diagn 2020 Apr;40(5):612-617. Epub 2020 Feb 12 doi: 10.1002/pd.5654. PMID: 32003477
Ethnic and population differences in the genetic predisposition to human obesity.
Stryjecki C, Alyass A, Meyre D
Obes Rev 2018 Jan;19(1):62-80. Epub 2017 Oct 10 doi: 10.1111/obr.12604. PMID: 29024387
Refractive errors of retinitis pigmentosa patients.
Sieving PA, Fishman GA
Br J Ophthalmol 1978 Mar;62(3):163-7. doi: 10.1136/bjo.62.3.163. PMID: 638108Free PMC Article

Diagnosis

Molecular Epidemiology in 591 Italian Probands With Nonsyndromic Retinitis Pigmentosa and Usher Syndrome.
Colombo L, Maltese PE, Castori M, El Shamieh S, Zeitz C, Audo I, Zulian A, Marinelli C, Benedetti S, Costantini A, Bressan S, Percio M, Ferri P, Abeshi A, Bertelli M, Rossetti L
Invest Ophthalmol Vis Sci 2021 Feb 1;62(2):13. doi: 10.1167/iovs.62.2.13. PMID: 33576794Free PMC Article
Application of targeted panel sequencing and whole exome sequencing for 76 Chinese families with retinitis pigmentosa.
Dan H, Huang X, Xing Y, Shen Y
Mol Genet Genomic Med 2020 Mar;8(3):e1131. Epub 2020 Jan 20 doi: 10.1002/mgg3.1131. PMID: 31960602Free PMC Article
Prenatal Diagnosis of Hydro(metro)colpos: A Series of 20 Cases.
Mallmann MR, Reutter H, Mack-Detlefsen B, Gottschalk I, Geipel A, Berg C, Boemers TM, Gembruch U
Fetal Diagn Ther 2019;45(1):62-68. Epub 2018 Feb 23 doi: 10.1159/000486781. PMID: 29478043
Modeling and Preventing Progressive Hearing Loss in Usher Syndrome III.
Geng R, Omar A, Gopal SR, Chen DH, Stepanyan R, Basch ML, Dinculescu A, Furness DN, Saperstein D, Hauswirth W, Lustig LR, Alagramam KN
Sci Rep 2017 Oct 18;7(1):13480. doi: 10.1038/s41598-017-13620-9. PMID: 29044151Free PMC Article
Unravelling the genetic basis of simplex Retinitis Pigmentosa cases.
Bravo-Gil N, González-Del Pozo M, Martín-Sánchez M, Méndez-Vidal C, Rodríguez-de la Rúa E, Borrego S, Antiñolo G
Sci Rep 2017 Feb 3;7:41937. doi: 10.1038/srep41937. PMID: 28157192Free PMC Article

Therapy

Identification of Small Molecular Chaperones Binding P23H Mutant Opsin through an In Silico Structure-Based Approach.
Picarazzi F, Zuanon M, Pasqualetto G, Cammarone S, Romeo I, Young MT, Brancale A, Bassetto M, Mori M
J Chem Inf Model 2022 Nov 28;62(22):5794-5805. Epub 2022 Nov 11 doi: 10.1021/acs.jcim.2c01040. PMID: 36367985
Exome-based search for recurrent disease-causing alleles in Russian population.
Yanus GA, Akhapkina TA, Whitehead AJ, Bizin IV, Iyevleva AG, Kuligina ES, Aleksakhina SN, Anisimova MO, Holmatov MM, Romanko AA, Zaitseva OA, Yatsuk OS, Zagorodnev KA, Matsneva MA, Koloskov AV, Togo AV, Suspitsin EN, Imyanitov EN
Eur J Med Genet 2019 Jul;62(7):103656. Epub 2019 Apr 24 doi: 10.1016/j.ejmg.2019.04.013. PMID: 31028847
The molecular and cellular basis of rhodopsin retinitis pigmentosa reveals potential strategies for therapy.
Athanasiou D, Aguila M, Bellingham J, Li W, McCulley C, Reeves PJ, Cheetham ME
Prog Retin Eye Res 2018 Jan;62:1-23. Epub 2017 Oct 16 doi: 10.1016/j.preteyeres.2017.10.002. PMID: 29042326Free PMC Article
Subretinal Visual Implant Alpha IMS--Clinical trial interim report.
Stingl K, Bartz-Schmidt KU, Besch D, Chee CK, Cottriall CL, Gekeler F, Groppe M, Jackson TL, MacLaren RE, Koitschev A, Kusnyerik A, Neffendorf J, Nemeth J, Naeem MA, Peters T, Ramsden JD, Sachs H, Simpson A, Singh MS, Wilhelm B, Wong D, Zrenner E
Vision Res 2015 Jun;111(Pt B):149-60. Epub 2015 Mar 23 doi: 10.1016/j.visres.2015.03.001. PMID: 25812924
The Wilcoxon signed rank test for paired comparisons of clustered data.
Rosner B, Glynn RJ, Lee ML
Biometrics 2006 Mar;62(1):185-92. doi: 10.1111/j.1541-0420.2005.00389.x. PMID: 16542245

Prognosis

Molecular Epidemiology in 591 Italian Probands With Nonsyndromic Retinitis Pigmentosa and Usher Syndrome.
Colombo L, Maltese PE, Castori M, El Shamieh S, Zeitz C, Audo I, Zulian A, Marinelli C, Benedetti S, Costantini A, Bressan S, Percio M, Ferri P, Abeshi A, Bertelli M, Rossetti L
Invest Ophthalmol Vis Sci 2021 Feb 1;62(2):13. doi: 10.1167/iovs.62.2.13. PMID: 33576794Free PMC Article
Prenatal diagnosis and clinical significance of cephalocele-A single institution experience and literature review.
Dąbkowska S, Kucińska-Chahwan A, Beneturska A, Ilnicka A, Nowakowska B, Panek G, Roszkowski T, Bijok J
Prenat Diagn 2020 Apr;40(5):612-617. Epub 2020 Feb 12 doi: 10.1002/pd.5654. PMID: 32003477
Prenatal Diagnosis of Hydro(metro)colpos: A Series of 20 Cases.
Mallmann MR, Reutter H, Mack-Detlefsen B, Gottschalk I, Geipel A, Berg C, Boemers TM, Gembruch U
Fetal Diagn Ther 2019;45(1):62-68. Epub 2018 Feb 23 doi: 10.1159/000486781. PMID: 29478043
Long-term clinical course of 2 Japanese patients with PRPF31-related retinitis pigmentosa.
Kurata K, Hosono K, Hotta Y
Jpn J Ophthalmol 2018 Mar;62(2):186-193. Epub 2018 Jan 5 doi: 10.1007/s10384-017-0560-7. PMID: 29305715
Pseudouveitis--analysis of cases misdiagnosed as posterior uveitis.
Nagpal A, Biswas J
Ocul Immunol Inflamm 2006 Feb;14(1):13-20. doi: 10.1080/09273940500545627. PMID: 16507486

Clinical prediction guides

Prenatal Diagnosis of Hydro(metro)colpos: A Series of 20 Cases.
Mallmann MR, Reutter H, Mack-Detlefsen B, Gottschalk I, Geipel A, Berg C, Boemers TM, Gembruch U
Fetal Diagn Ther 2019;45(1):62-68. Epub 2018 Feb 23 doi: 10.1159/000486781. PMID: 29478043
Trafficking of ciliary membrane proteins by the intraflagellar transport/BBSome machinery.
Wingfield JL, Lechtreck KF, Lorentzen E
Essays Biochem 2018 Dec 7;62(6):753-763. doi: 10.1042/EBC20180030. PMID: 30287585Free PMC Article
Subretinal Visual Implant Alpha IMS--Clinical trial interim report.
Stingl K, Bartz-Schmidt KU, Besch D, Chee CK, Cottriall CL, Gekeler F, Groppe M, Jackson TL, MacLaren RE, Koitschev A, Kusnyerik A, Neffendorf J, Nemeth J, Naeem MA, Peters T, Ramsden JD, Sachs H, Simpson A, Singh MS, Wilhelm B, Wong D, Zrenner E
Vision Res 2015 Jun;111(Pt B):149-60. Epub 2015 Mar 23 doi: 10.1016/j.visres.2015.03.001. PMID: 25812924
The Wilcoxon signed rank test for paired comparisons of clustered data.
Rosner B, Glynn RJ, Lee ML
Biometrics 2006 Mar;62(1):185-92. doi: 10.1111/j.1541-0420.2005.00389.x. PMID: 16542245
Flicker electroretinogram in retinitis pigmentosa.
Massof RW, Johnson MA, Sunness JS, Perry C, Finkelstein D
Doc Ophthalmol 1986 Mar 31;62(3):231-45. doi: 10.1007/BF00212649. PMID: 3486101

Recent systematic reviews

Characterizing the genotypic spectrum of retinitis pigmentosa in East Asian populations: a systematic review.
Lee BJH, Tham YC, Tan TE, Bylstra Y, Lim WK, Jain K, Chan CM, Mathur R, Cheung CMG, Fenner BJ
Ophthalmic Genet 2023 Apr;44(2):109-118. Epub 2023 Mar 1 doi: 10.1080/13816810.2023.2182329. PMID: 36856324

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