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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.
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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.
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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 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
Reading and Theory of Mind in Adolescents with Cochlear Implant.
Figueroa M, Darbra S, Silvestre N
J Deaf Stud Deaf Educ 2020 Apr 5;25(2):212-223. doi: 10.1093/deafed/enz046. PMID: 32091587
Management of patients with cochlear implants and ventriculoperitoneal shunts.
Chadwick KA, Moore J, Tye GW, Coelho DH
Cochlear Implants Int 2014 Jul;15(4):185-90. Epub 2013 Nov 25 doi: 10.1179/1754762813Y.0000000055. PMID: 24144174
A new age in the genetics of deafness.
Rehm HL, Morton CC
Genet Med 1999 Sep-Oct;1(6):295-302; quiz 303. doi: 10.1097/00125817-199909000-00009. PMID: 11258632

Diagnosis

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
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
Branchio-oto-renal syndrome.
Garg A, Wadhera R, Gulati SP, Kumar A
J Assoc Physicians India 2008 Nov;56:904-5. PMID: 19263692
The usher syndromes.
Keats BJ, Corey DP
Am J Med Genet 1999 Sep 24;89(3):158-66. PMID: 10704190
Word-deafness revisited.
Lancet 1986 Jun 28;1(8496):1477-8. PMID: 2873285

Therapy

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
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
KID syndrome.
Abdollahi A, Hallaji Z, Esmaili N, Valikhani M, Barzegari M, Akhyani M, Toosi S, Miresmaili A
Dermatol Online J 2007 Oct 13;13(4):11. PMID: 18319008

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
The Genetic Basis of Nonsyndromic Hearing Loss in Indian and Pakistani Populations.
Yan D, Kannan-Sundhari A, Vishwanath S, Qing J, Mittal R, Kameswaran M, Liu XZ
Genet Test Mol Biomarkers 2015 Sep;19(9):512-27. Epub 2015 Jul 17 doi: 10.1089/gtmb.2015.0023. PMID: 26186295Free PMC Article
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
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
Systematic Review of Nontumor Pediatric Auditory Brainstem Implant Outcomes.
Noij KS, Kozin ED, Sethi R, Shah PV, Kaplan AB, Herrmann B, Remenschneider A, Lee DJ
Otolaryngol Head Neck Surg 2015 Nov;153(5):739-50. Epub 2015 Jul 30 doi: 10.1177/0194599815596929. PMID: 26227469

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

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    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
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