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

Clinical Practice Guidelines for the Immunological Management of Chromosome 22q11.2 Deletion Syndrome and Other Defects in Thymic Development.
Mustillo PJ, Sullivan KE, Chinn IK, Notarangelo LD, Haddad E, Davies EG, de la Morena MT, Hartog N, Yu JE, Hernandez-Trujillo VP, Ip W, Franco J, Gambineri E, Hickey SE, Varga E, Markert ML
J Clin Immunol 2023 Feb;43(2):247-270. Epub 2023 Jan 17 doi: 10.1007/s10875-022-01418-y. PMID: 36648576Free PMC Article
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

Recent clinical studies

Etiology

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
Cochlear implants: Visual evoked potentials study.
Gabr T, Eldessouki T, Hashem A, Elgamal S, Zeinhom M
Int J Pediatr Otorhinolaryngol 2022 Oct;161:111250. Epub 2022 Jul 31 doi: 10.1016/j.ijporl.2022.111250. PMID: 35930866
Cochlear Implantation in Infants: Why and How.
Purcell PL, Deep NL, Waltzman SB, Roland JT Jr, Cushing SL, Papsin BC, Gordon KA
Trends Hear 2021 Jan-Dec;25:23312165211031751. doi: 10.1177/23312165211031751. PMID: 34281434Free PMC Article
Taxonomic Knowledge of Children With and Without Cochlear Implants.
Lund E, Dinsmoor J
Lang Speech Hear Serv Sch 2016 Jul 1;47(3):236-45. doi: 10.1044/2016_LSHSS-15-0032. PMID: 27393526
Bilateral cochlear implantation in children and the impact of the inter-implant interval.
Lammers MJ, Venekamp RP, Grolman W, van der Heijden GJ
Laryngoscope 2014 Apr;124(4):993-9. Epub 2013 Oct 10 doi: 10.1002/lary.24395. PMID: 24122619

Diagnosis

Molecular diagnosis of hereditary deafness and application of stepwise testing strategy.
Zeng BP, Xu HG, Mao L, Tang WX
Yi Chuan 2023 Jan 20;45(1):29-41. doi: 10.16288/j.yczz.22-206. PMID: 36927636
Brain Plasticity and Rehabilitation with a Cochlear Implant.
McKay CM
Adv Otorhinolaryngol 2018;81:57-65. Epub 2018 Apr 6 doi: 10.1159/000485586. PMID: 29794427
Why American Sign Language Gloss Must Matter.
Supalla SJ, Cripps JH, Byrne AP
Am Ann Deaf 2017;161(5):540-551. doi: 10.1353/aad.2017.0004. PMID: 28238974
d/Deaf and Hard of Hearing Learners: DML, DLL, ELL, EL, ESL . . . or Culturally and Linguistically Diverse.
Paul PV
Am Ann Deaf 2016 Spring;161(1):3-7. doi: 10.1353/aad.2016.0013. PMID: 27156913
The usher syndromes.
Keats BJ, Corey DP
Am J Med Genet 1999 Sep 24;89(3):158-66. PMID: 10704190

Therapy

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
Cochlear implant and tinnitus-a meta-analysis.
Borges ALF, Duarte PLES, Almeida RBS, Ledesma ALL, Azevedo YJ, Pereira LV, Bahmad F Jr
Braz J Otorhinolaryngol 2021 May-Jun;87(3):353-365. Epub 2020 Dec 8 doi: 10.1016/j.bjorl.2020.11.006. PMID: 33342697Free PMC Article
Osmotic therapies added to antibiotics for acute bacterial meningitis.
Wall EC, Ajdukiewicz KM, Bergman H, Heyderman RS, Garner P
Cochrane Database Syst Rev 2018 Feb 6;2(2):CD008806. doi: 10.1002/14651858.CD008806.pub3. PMID: 29405037Free PMC Article
Cochlear implantation and alcohol misuse.
Fraser L, Shanks M, Wardrop P, Allen A
Cochlear Implants Int 2015 Jan;16(1):51-6. Epub 2014 Jun 27 doi: 10.1179/1754762814Y.0000000089. PMID: 24972491
Bilateral cochlear implantation in children and the impact of the inter-implant interval.
Lammers MJ, Venekamp RP, Grolman W, van der Heijden GJ
Laryngoscope 2014 Apr;124(4):993-9. Epub 2013 Oct 10 doi: 10.1002/lary.24395. PMID: 24122619

Prognosis

A Nationwide Study Examining Deafness Among Hospitalized Adults.
Harris CM, Kotwal S, Wright SM
Am J Audiol 2021 Jun 14;30(2):275-280. Epub 2021 Apr 6 doi: 10.1044/2021_AJA-20-00156. PMID: 33823115
Socioeconomic Disparities in Pediatric Single-Sided Deafness.
Lipschitz N, Kohlberg GD, Scott M, Smith MM, Greinwald JH Jr
Otolaryngol Head Neck Surg 2020 Oct;163(4):829-834. Epub 2020 Jun 2 doi: 10.1177/0194599820923634. PMID: 32482130
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
Deafness and its prevention--Indian scenario.
Kumar S
Indian J Pediatr 1997 Nov-Dec;64(6):801-9. doi: 10.1007/BF02725502. PMID: 10771923
Neonatal hearing screening.
Oudesluys-Murphy AM, van Straaten HL, Bholasingh R, van Zanten GA
Eur J Pediatr 1996 Jun;155(6):429-35. doi: 10.1007/BF01955176. PMID: 8789756

Clinical prediction guides

Cochlear implants: the effects of age on outcomes.
Spitzer ER, Waltzman SB
Expert Rev Med Devices 2023 Jul-Dec;20(12):1131-1141. Epub 2023 Nov 24 doi: 10.1080/17434440.2023.2283619. PMID: 37969071
Auditory Brainstem Implants-Hearing Restoration in Congenitally Deaf Children.
Behr R, Schwager K, Hofmann E
Dtsch Arztebl Int 2022 Mar 4;119(9):135-141. doi: 10.3238/arztebl.m2022.0090. PMID: 35012707Free PMC Article
Systematic Review of Outcomes After Cochlear Implantation in Children With X-Linked Deafness-2.
Smith JD, El-Kashlan N, Darr OAF, Thorne MC
Otolaryngol Head Neck Surg 2021 Jan;164(1):19-26. Epub 2020 Jun 30 doi: 10.1177/0194599820932138. PMID: 32600118
Predictive Value of GJB2 Mutation Status for Hearing Outcomes of Pediatric Cochlear Implantation.
Abdurehim Y, Lehmann A, Zeitouni AG
Otolaryngol Head Neck Surg 2017 Jul;157(1):16-24. Epub 2017 Mar 21 doi: 10.1177/0194599817697054. PMID: 28322114
Higher-order auditory areas in congenital deafness: Top-down interactions and corticocortical decoupling.
Kral A, Yusuf PA, Land R
Hear Res 2017 Jan;343:50-63. Epub 2016 Sep 13 doi: 10.1016/j.heares.2016.08.017. PMID: 27637669

Recent systematic reviews

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
Drug-associated adverse events in the treatment of multidrug-resistant tuberculosis: an individual patient data meta-analysis.
Lan Z, Ahmad N, Baghaei P, Barkane L, Benedetti A, Brode SK, Brust JCM, Campbell JR, Chang VWL, Falzon D, Guglielmetti L, Isaakidis P, Kempker RR, Kipiani M, Kuksa L, Lange C, Laniado-Laborín R, Nahid P, Rodrigues D, Singla R, Udwadia ZF, Menzies D; Collaborative Group for the Meta-Analysis of Individual Patient Data in MDR-TB treatment 2017
Lancet Respir Med 2020 Apr;8(4):383-394. Epub 2020 Mar 17 doi: 10.1016/S2213-2600(20)30047-3. PMID: 32192585Free PMC Article
Topical antibiotics for chronic suppurative otitis media.
Brennan-Jones CG, Head K, Chong LY, Burton MJ, Schilder AG, Bhutta MF
Cochrane Database Syst Rev 2020 Jan 2;1(1):CD013051. doi: 10.1002/14651858.CD013051.pub2. PMID: 31896168Free 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
    • 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...