Full Report

Format

Full Report
Summary (Text)
Summary (XML)

Send to:

Choose Destination

File
Clipboard
Collections

Retinitis pigmentosa 81(RP81)

MedGen UID:: 1637738
•Concept ID:: C4693443
•: Disease or Syndrome

Synonym:	RP81

Gene (location): Gene(s) directly associated with this condition or phenotype.	IFT43 (14q24.3)

Monarch Initiative:	MONDO:0036482
OMIM®:	617871

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

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

Retinal pigment epithelial atrophy

MedGen UID:: 333564
•Concept ID:: C1840457
•: Finding

Atrophy (loss or wasting) of the retinal pigment epithelium observed on fundoscopy or fundus imaging.

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

Abnormality of the eye

Professional guidelines

PubMed

Genetic testing and gene therapy in retinal diseases: Knowledge and perceptions of optometrists in Australia and New Zealand.

Britten-Jones AC, Mack HG, Vincent AL, Hill LJ, Edwards TL, Ayton LN
Clin Genet 2024 Jan;105(1):34-43. Epub 2023 Aug 8 doi: 10.1111/cge.14415. PMID: 37553298 Free PMC Article

Efficacy and prognostic factors of response to carbonic anhydrase inhibitors in management of cystoid macular edema in retinitis pigmentosa.

Liew G, Moore AT, Webster AR, Michaelides M
Invest Ophthalmol Vis Sci 2015 Feb 10;56(3):1531-6. doi: 10.1167/iovs.14-15995. PMID: 25670491

The clinical efficacy of a topical dorzolamide in the management of cystoid macular edema in patients with retinitis pigmentosa.

Ikeda Y, Hisatomi T, Yoshida N, Notomi S, Murakami Y, Enaida H, Ishibashi T
Graefes Arch Clin Exp Ophthalmol 2012 Jun;250(6):809-14. Epub 2012 Jan 4 doi: 10.1007/s00417-011-1904-5. PMID: 22215259

See all (4)

Recent clinical studies

Etiology

Genetic Landscape of Nonsyndromic Retinitis Pigmentosa in Portugal.

Chukwunalu O, Ambrósio AF, Carvalho AL, Quinn PMJ, Marques JP, Alves CH
Adv Exp Med Biol 2025;1468:81-86. doi: 10.1007/978-3-031-76550-6_14. PMID: 39930177

Renal transplantation in Bardet-Biedl Syndrome.

Haws RM, Joshi A, Shah SA, Alkandari O, Turman MA
Pediatr Nephrol 2016 Nov;31(11):2153-61. Epub 2016 Jun 1 doi: 10.1007/s00467-016-3415-4. PMID: 27245600

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

Genetic diseases of hearing.

Spillmann T
Curr Opin Neurol 1994 Feb;7(1):81-7. doi: 10.1097/00019052-199402000-00015. PMID: 8173684

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

See all (76)

Diagnosis

Leber Mitochondrial Optic Neuropathy in Pediatric Females With Focus on Very Early Onset Cases.

Tagliani S, Malaventura C, Ceccato C, Parmeggiani F, Suppiej A
J Child Neurol 2023 Feb;38(1-2):5-15. Epub 2023 Jan 19 doi: 10.1177/08830738221149962. PMID: 36659874

Fundus Photography Methodologies to Assess RP Patients.

Oh JK, Ryu J, Tsang SH
Methods Mol Biol 2023;2560:81-90. doi: 10.1007/978-1-0716-2651-1_7. PMID: 36481885

Renal transplantation in Bardet-Biedl Syndrome.

Haws RM, Joshi A, Shah SA, Alkandari O, Turman MA
Pediatr Nephrol 2016 Nov;31(11):2153-61. Epub 2016 Jun 1 doi: 10.1007/s00467-016-3415-4. PMID: 27245600

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

Retinitis pigmentosa without pigment.

Berson EL
Arch Ophthalmol 1969 Apr;81(4):453. doi: 10.1001/archopht.1969.00990010455001. PMID: 5777754

See all (90)

Therapy

Translational Research and Therapies for Neuroprotection and Regeneration of the Optic Nerve and Retina: A Narrative Review.

Oshitari T
Int J Mol Sci 2024 Sep 29;25(19) doi: 10.3390/ijms251910485. PMID: 39408817 Free PMC Article

Clinical Phenotype and Course of PDE6A-Associated Retinitis Pigmentosa Disease, Characterized in Preparation for a Gene Supplementation Trial.

Kuehlewein L, Zobor D, Andreasson SO, Ayuso C, Banfi S, Bocquet B, Bernd AS, Biskup S, Boon CJF, Downes SM, Fischer MD, Holz FG, Kellner U, Leroy BP, Meunier I, Nasser F, Rosenberg T, Rudolph G, Stingl K, Thiadens AAHJ, Wilhelm B, Wissinger B, Zrenner E, Kohl S, Weisschuh N; RD-CURE Consortium
JAMA Ophthalmol 2020 Dec 1;138(12):1241-1250. doi: 10.1001/jamaophthalmol.2020.4206. PMID: 33057649 Free PMC Article

Renal transplantation in Bardet-Biedl Syndrome.

Haws RM, Joshi A, Shah SA, Alkandari O, Turman MA
Pediatr Nephrol 2016 Nov;31(11):2153-61. Epub 2016 Jun 1 doi: 10.1007/s00467-016-3415-4. PMID: 27245600

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

Genetic diseases of hearing.

Spillmann T
Curr Opin Neurol 1994 Feb;7(1):81-7. doi: 10.1097/00019052-199402000-00015. PMID: 8173684

See all (26)

Prognosis

Long-Term Outcomes of Cochlear Implantation in Usher Syndrome.

Fehrmann MLA, Lanting CP, Haer-Wigman L, Yntema HG, Mylanus EAM, Huinck WJ, Pennings RJE
Ear Hear 2024 Nov-Dec 01;45(6):1542-1553. Epub 2024 Jul 11 doi: 10.1097/AUD.0000000000001544. PMID: 38987893 Free PMC Article

Genetic profile of syndromic retinitis pigmentosa in Portugal.

Cortinhal T, Santos C, Vaz-Pereira S, Marta A, Duarte L, Miranda V, Costa J, Sousa AB, Peter VG, Kaminska K, Rivolta C, Carvalho AL, Saraiva J, Soares CA, Silva R, Murta J, Santos LC, Marques JP
Graefes Arch Clin Exp Ophthalmol 2024 Jun;262(6):1883-1897. Epub 2024 Jan 8 doi: 10.1007/s00417-023-06360-2. PMID: 38189974 Free PMC Article

Genotypes Influence Clinical Progression in EYS-Associated Retinitis Pigmentosa.

Lo JE, Cheng CY, Yang CH, Yang CM, Chen YC, Huang YS, Chen PL, Chen TC
Transl Vis Sci Technol 2022 Jul 8;11(7):6. doi: 10.1167/tvst.11.7.6. PMID: 35816039 Free PMC Article

Renal transplantation in Bardet-Biedl Syndrome.

Haws RM, Joshi A, Shah SA, Alkandari O, Turman MA
Pediatr Nephrol 2016 Nov;31(11):2153-61. Epub 2016 Jun 1 doi: 10.1007/s00467-016-3415-4. PMID: 27245600

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

See all (35)

Clinical prediction guides

Functional Vision in Patients With Biallelic USH2A Variants.

Heon E, Melia M, Bocchino LE, Samarakoon L, Duncan JL, Ayala AR, Audo I, Bradley C, Cheetham JK, Dagnelie G, Durham TA, Hoyng CB, Jain N, Jayasundera KT, Pennesi ME, Weng CY; Foundation Fighting Blindness Consortium Investigator Group
Am J Ophthalmol 2024 Apr;260:200-211. Epub 2023 Dec 21 doi: 10.1016/j.ajo.2023.12.009. PMID: 38135239 Free PMC Article

Genotypes Influence Clinical Progression in EYS-Associated Retinitis Pigmentosa.

Lo JE, Cheng CY, Yang CH, Yang CM, Chen YC, Huang YS, Chen PL, Chen TC
Transl Vis Sci Technol 2022 Jul 8;11(7):6. doi: 10.1167/tvst.11.7.6. PMID: 35816039 Free 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

Relationship between vision-related quality of life and microperimetry-determined macular sensitivity in patients with retinitis pigmentosa.

Sugawara T, Sato E, Baba T, Hagiwara A, Tawada A, Yamamoto S
Jpn J Ophthalmol 2011 Nov;55(6):643-6. Epub 2011 Aug 24 doi: 10.1007/s10384-011-0080-9. PMID: 21863221

RPE65 gene: multiplex PCR and mutation screening in patients from India with retinal degenerative diseases.

Joseph B, Srinivasan A, Soumittra N, Vidhya A, Shetty NS, Uthra S, Kumaramanickavel G
J Genet 2002 Apr;81(1):19-23. doi: 10.1007/BF02715866. PMID: 12357075

See all (44)

Recent systematic reviews

A systematic review of inherited retinal dystrophies in Pakistan: updates from 1999 to April 2023.

Munir A, Afsar S, Rehman AU
BMC Ophthalmol 2024 Feb 5;24(1):55. doi: 10.1186/s12886-024-03319-7. PMID: 38317096 Free PMC Article

Epidemiology of Mutations in the 65-kDa Retinal Pigment Epithelium (RPE65) Gene-Mediated Inherited Retinal Dystrophies: A Systematic Literature Review.

Sallum JMF, Kaur VP, Shaikh J, Banhazi J, Spera C, Aouadj C, Viriato D, Fischer MD
Adv Ther 2022 Mar;39(3):1179-1198. Epub 2022 Jan 30 doi: 10.1007/s12325-021-02036-7. PMID: 35098484 Free PMC Article

See all (2)

MedGen

National Center for Biotechnology Information

Send to:

Retinitis pigmentosa 81(RP81)

Clinical features

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Recent systematic reviews

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Practice guidelines

Molecular resources

Consumer resources

Reviews

Related information

Recent activity