U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness(RPSRDF)

MedGen UID:
440716
•Concept ID:
C2749137
•
Disease or Syndrome
Synonym: RPSRDF
Modes of inheritance:
X-linked recessive inheritance
MedGen UID:
375779
•Concept ID:
C1845977
•
Finding
Source: Orphanet
A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.
See: This record
X-linked recessive inheritance (Orphanet)
 
Gene (location): RPGR (Xp11.4)
 
OMIM®: 300455
Orphanet: ORPHA247522

Definition

X-linked retinitis pigmentosa and sinorespiratory infections with or without deafness (RPSRDF) is characterized by typical features of RP, including night blindness, constricted visual fields, progressive reduction in visual acuity, bone-spicule pigmentation, and extinguished responses on electroretinography. Affected individuals also experience severe recurrent sinorespiratory infections, and some develop progressive hearing loss. Carrier females may show an attenuated ocular and/or respiratory phenotype (Zito et al., 2003; Moore et al., 2006). [from OMIM]

Clinical features

From HPO
High-frequency hearing impairment
MedGen UID:
42358
•Concept ID:
C0018780
•
Disease or Syndrome
A type of hearing impairment affecting primarily the higher frequencies of sound (3,000 to 6,000 Hz).
See: Feature record | Search on this feature
Atelectasis
MedGen UID:
13946
•Concept ID:
C0004144
•
Pathologic Function
Collapse of part of a lung associated with absence of inflation (air) of that part.
See: Feature record | Search on this feature
Recurrent bronchitis
MedGen UID:
148159
•Concept ID:
C0741796
•
Disease or Syndrome
An increased susceptibility to bronchitis as manifested by a history of recurrent bronchitis.
See: Feature record | Search on this feature
Otitis media
MedGen UID:
45253
•Concept ID:
C0029882
•
Disease or Syndrome
Inflammation or infection of the middle ear.
See: Feature record | Search on this feature
Chronic sinusitis
MedGen UID:
101751
•Concept ID:
C0149516
•
Disease or Syndrome
A chronic form of sinusitis.
See: Feature record | Search on this feature
Recurrent Haemophilus influenzae infections
MedGen UID:
870747
•Concept ID:
C4025204
•
Finding
Increased susceptibility to Haemophilus influenzae infections as manifested by recurrent episodes of infection by Haemophilus influenzae.
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
Show allHide all

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVRetinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness
Follow this link to review classifications for Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness in Orphanet.

Professional guidelines

PubMed

Alport Syndrome: Achieving Early Diagnosis and Treatment.
Kashtan CE
Am J Kidney Dis 2021 Feb;77(2):272-279. Epub 2020 Jul 22 doi: 10.1053/j.ajkd.2020.03.026. PMID: 32712016
Wolfram Syndrome: Diagnosis, Management, and Treatment.
Urano F
Curr Diab Rep 2016 Jan;16(1):6. doi: 10.1007/s11892-015-0702-6. PMID: 26742931Free PMC Article
Neonatal screening programs.
Keskinkılıç B
Clin Biochem 2014 Jun;47(9):692. Epub 2014 May 18 doi: 10.1016/j.clinbiochem.2014.05.009. PMID: 24845716

Recent clinical studies

Etiology

Reading achievement and deaf students with cochlear implants.
Mayer C, Trezek BJ
Cochlear Implants Int 2024 Sep;25(5):394-402. Epub 2024 Aug 28 doi: 10.1080/14670100.2024.2394313. PMID: 39196914
Gene therapy for deafness: are we there now?
Moser T, Chen H, Kusch K, Behr R, Vona B
EMBO Mol Med 2024 Apr;16(4):675-677. Epub 2024 Mar 25 doi: 10.1038/s44321-024-00058-6. PMID: 38528140Free PMC Article
History of cochlear implantation.
Ramsden RT
Cochlear Implants Int 2013 Nov;14 Suppl 4:S3-5. doi: 10.1179/1467010013Z.000000000140. PMID: 24533753
Cochlear implants: current status and future potential.
Cosetti MK, Waltzman SB
Expert Rev Med Devices 2011 May;8(3):389-401. doi: 10.1586/erd.11.12. PMID: 21542710
Issues to consider in deaf and hard-of-hearing patients. The Committee on Disabilities of the Group for the Advancement of Psychiatry.
Am Fam Physician 1997 Nov 15;56(8):2057-64, 2067-8. PMID: 9390099

Diagnosis

Syndrome in Question.
Peruzzo J, Nazar FL, Tubone MQ, Escobar GF, Cestari TF
An Bras Dermatol 2015 Jul-Aug;90(4):589-90. doi: 10.1590/abd1806-4841.20153343. PMID: 26375234Free PMC Article
Deafness in the genomics era.
Shearer AE, Hildebrand MS, Sloan CM, Smith RJ
Hear Res 2011 Dec;282(1-2):1-9. Epub 2011 Oct 8 doi: 10.1016/j.heares.2011.10.001. PMID: 22016077Free PMC Article
Profound deafness in childhood.
Kral A, O'Donoghue GM
N Engl J Med 2010 Oct 7;363(15):1438-50. doi: 10.1056/NEJMra0911225. PMID: 20925546
Deafness: diagnosis and management.
Tonkin JP
Med J Aust 1990 Jun 18;152(12):659-63. doi: 10.5694/j.1326-5377.1990.tb125426.x. PMID: 2198446
Pseudohypacusis.
Goldstein R
J Speech Hear Disord 1966 Nov;31(4):341-52. doi: 10.1044/jshd.3104.341. PMID: 5923001

Therapy

Gene therapy for hereditary deafness.
Smith C, Zafeer MF, Tekin M
Nat Med 2024 Jul;30(7):1828-1829. doi: 10.1038/s41591-024-03004-8. PMID: 38839898
Bilateral gene therapy in children with autosomal recessive deafness 9: single-arm trial results.
Wang H, Chen Y, Lv J, Cheng X, Cao Q, Wang D, Zhang L, Zhu B, Shen M, Xu C, Xun M, Wang Z, Tang H, Hu S, Cui C, Jiang L, Yin Y, Guo L, Zhou Y, Han L, Gao Z, Zhang J, Yu S, Gao K, Wang J, Chen B, Wang W, Chen ZY, Li H, Shu Y
Nat Med 2024 Jul;30(7):1898-1904. Epub 2024 Jun 5 doi: 10.1038/s41591-024-03023-5. PMID: 38839897Free PMC Article
AAV1-hOTOF gene therapy for autosomal recessive deafness 9: a single-arm trial.
Lv J, Wang H, Cheng X, Chen Y, Wang D, Zhang L, Cao Q, Tang H, Hu S, Gao K, Xun M, Wang J, Wang Z, Zhu B, Cui C, Gao Z, Guo L, Yu S, Jiang L, Yin Y, Zhang J, Chen B, Wang W, Chai R, Chen ZY, Li H, Shu Y
Lancet 2024 May 25;403(10441):2317-2325. Epub 2024 Jan 24 doi: 10.1016/S0140-6736(23)02874-X. PMID: 38280389
AAV-Mediated Gene Therapy Restores Hearing in Patients with DFNB9 Deafness.
Qi J, Tan F, Zhang L, Lu L, Zhang S, Zhai Y, Lu Y, Qian X, Dong W, Zhou Y, Zhang Z, Yang X, Jiang L, Yu C, Liu J, Chen T, Wu L, Tan C, Sun S, Song H, Shu Y, Xu L, Gao X, Li H, Chai R
Adv Sci (Weinh) 2024 Mar;11(11):e2306788. Epub 2024 Jan 8 doi: 10.1002/advs.202306788. PMID: 38189623Free PMC Article
The role of comorbidities in cardioprotection.
Sack MN, Murphy E
J Cardiovasc Pharmacol Ther 2011 Sep-Dec;16(3-4):267-72. doi: 10.1177/1074248411408313. PMID: 21821527Free PMC Article

Prognosis

Effects of a wireless frequency modulation system on learning ability and emotional and behaviour problem improvement in 11 children with cochlear implant.
Cho YS, Ahn JH, Seol HY, Hong SH, Moon IJ
Clin Otolaryngol 2019 Sep;44(5):820-825. Epub 2019 Jul 11 doi: 10.1111/coa.13362. PMID: 31095874
Linking Deafness and Dementia: Challenges and Opportunities.
Lin VYW, Black SE
Otol Neurotol 2017 Sep;38(8):e237-e239. doi: 10.1097/MAO.0000000000001408. PMID: 28806332
Review: cochlear implants as a treatment of tinnitus in single-sided deafness.
Arts RA, George EL, Stokroos RJ, Vermeire K
Curr Opin Otolaryngol Head Neck Surg 2012 Oct;20(5):398-403. doi: 10.1097/MOO.0b013e3283577b66. PMID: 22931903
Central auditory mechanisms associated with cochlear implantation: an overview of selected studies and comment.
Musiek FE, Daniels SB
Cochlear Implants Int 2010 Jun;11 Suppl 1:15-28. doi: 10.1179/146701010X12671178390753. PMID: 21756581
Deafness in children.
Mohay H
Med J Aust 1991 Mar 18;154(6):372-4. doi: 10.5694/j.1326-5377.1991.tb121123.x. PMID: 1878019

Clinical prediction guides

Reading achievement and deaf students with cochlear implants.
Mayer C, Trezek BJ
Cochlear Implants Int 2024 Sep;25(5):394-402. Epub 2024 Aug 28 doi: 10.1080/14670100.2024.2394313. PMID: 39196914
Investigating the Writing Achievement of Deaf Learners.
Mayer C, Trezek BJ
Am Ann Deaf 2023;167(5):625-643. doi: 10.1353/aad.2023.0004. PMID: 38661776
Visual sequential processing and language ability in children who are deaf or hard of hearing.
Gremp MA, Deocampo JA, Walk AM, Conway CM
J Child Lang 2019 Jul;46(4):785-799. Epub 2019 Feb 26 doi: 10.1017/S0305000918000569. PMID: 30803455Free PMC Article
Auditory evoked potentials as measures of plasticity in humans.
Purdy SC, Kelly AS, Thorne PR
Audiol Neurootol 2001 Jul-Aug;6(4):211-5. doi: 10.1159/000046835. PMID: 11694730
Categories of Auditory Performance.
Archbold S, Lutman ME, Marshall DH
Ann Otol Rhinol Laryngol Suppl 1995 Sep;166:312-4. PMID: 7668685

Recent systematic reviews

Autism intervention meta-analysis of early childhood studies (Project AIM): updated systematic review and secondary analysis.
Sandbank M, Bottema-Beutel K, Crowley LaPoint S, Feldman JI, Barrett DJ, Caldwell N, Dunham K, Crank J, Albarran S, Woynaroski T
BMJ 2023 Nov 14;383:e076733. doi: 10.1136/bmj-2023-076733. PMID: 37963634Free PMC Article
Delineating Wolfram-like syndrome: A systematic review and discussion of the WFS1-associated disease spectrum.
de Muijnck C, Brink JBT, Bergen AA, Boon CJF, van Genderen MM
Surv Ophthalmol 2023 Jul-Aug;68(4):641-654. Epub 2023 Feb 9 doi: 10.1016/j.survophthal.2023.01.012. PMID: 36764396
Betahistine in Ménière's Disease or Syndrome: A Systematic Review.
Van Esch B, van der Zaag-Loonen H, Bruintjes T, van Benthem PP
Audiol Neurootol 2022;27(1):1-33. Epub 2021 Jul 7 doi: 10.1159/000515821. PMID: 34233329
Cochlear Implantation in Children With Single-Sided Deafness: A Systematic Review and Meta-analysis.
Benchetrit L, Ronner EA, Anne S, Cohen MS
JAMA Otolaryngol Head Neck Surg 2021 Jan 1;147(1):58-69. doi: 10.1001/jamaoto.2020.3852. PMID: 33151295Free PMC Article
Saline irrigation for allergic rhinitis.
Head K, Snidvongs K, Glew S, Scadding G, Schilder AG, Philpott C, Hopkins C
Cochrane Database Syst Rev 2018 Jun 22;6(6):CD012597. doi: 10.1002/14651858.CD012597.pub2. PMID: 29932206Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • MeSH
      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...