Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review

Deafness and Myopia Syndrome

Jessica L Ordonez  1 , Mustafa Tekin  2
Margaret P Adam, Jerry Feldman, Ghayda M Mirzaa, Roberta A Pagon, Stephanie E Wallace, Anne Amemiya
, editors.
In: GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993.
[updated ].
Affiliations
Free Books & Documents
Review

Deafness and Myopia Syndrome

Jessica L Ordonez et al.
Free Books & Documents

Excerpt

Clinical characteristics: Deafness and myopia (DFNMYP) syndrome is characterized by bilateral, congenital or prelingual deafness (sensorineural hearing loss or auditory neuropathy spectrum disorder) and high myopia (>-6 diopters). In individuals with a molecularly confirmed diagnosis reported to date, hearing loss was progressive and severity ranged from moderate to profound. Vestibular testing was normal. Myopia was diagnosed at infancy or early childhood.

Diagnosis/testing: The diagnosis is established in a proband by identification of biallelic pathogenic variants in SLITRK6 on molecular genetic testing.

Management: Treatment of manifestations: For hearing loss: use of hearing habilitation devices including hearing aids and vibrotactile hearing tools; cochlear implantation may be considered in individuals with severe-to-profound sensorineural hearing loss and auditory neuropathy spectrum disorder; enrollment in appropriate early-intervention and educational programs for the hearing impaired. For myopia: routine correction of refractive error.

Surveillance: ENT and audiology evaluations at least yearly; regular speech and language evaluation to monitor language development; regular ophthalmology evaluations to monitor for potential complications from high myopia; yearly evaluations by a clinical geneticist familiar with hereditary forms of deafness.

Agents/circumstances to avoid: Known environmental factors for hearing loss (e.g., loud noises) and ototoxic medications.

Evaluation of relatives at risk: If the SLITRK6 pathogenic variants in the family are known, molecular genetic testing can be used to clarify the genetic status of at-risk sibs. If a molecular diagnosis has not been established, clinical audiology and ophthalmology evaluations should be considered for at-risk sibs.

Genetic counseling: DFNMYP syndrome is inherited in an autosomal recessive manner. At conception, each sib of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. Carrier testing for at-risk relatives and prenatal testing for a pregnancy at increased risk are possible if the SLITRK6 pathogenic variants have been identified in an affected family member.

PubMed Disclaimer

Similar articles

  • Beta-Thalassemia.
    Langer AL. Langer AL. 2000 Sep 28 [updated 2024 Feb 8]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2000 Sep 28 [updated 2024 Feb 8]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 20301599 Free Books & Documents. Review.
  • Alpha-Mannosidosis.
    Ficicioglu C, Stepien KM. Ficicioglu C, et al. 2001 Oct 11 [updated 2024 Jun 13]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2001 Oct 11 [updated 2024 Jun 13]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 20301570 Free Books & Documents. Review.
  • Biotinidase Deficiency.
    Wolf B. Wolf B. 2000 Mar 24 [updated 2023 May 25]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2000 Mar 24 [updated 2023 May 25]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 20301497 Free Books & Documents. Review.
  • FBN1-Related Marfan Syndrome.
    Dietz H. Dietz H. 2001 Apr 18 [updated 2022 Feb 17]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2001 Apr 18 [updated 2022 Feb 17]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 20301510 Free Books & Documents. Review.
  • Adenosine Deaminase Deficiency.
    Hershfield M, Tarrant T. Hershfield M, et al. 2006 Oct 3 [updated 2024 Mar 7]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2006 Oct 3 [updated 2024 Mar 7]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 20301656 Free Books & Documents. Review.
See all similar articles

References

    1. Aruga J. Slitrk6 expression profile in the mouse embryo and its relationship to that of Nlrr3. Gene Expr Patterns. 2003;3:727–33. - PubMed
    1. Aruga J, Mikoshiba K. Identification and characterization of Slitrk, a novel neuronal transmembrane protein family controlling neurite outgrowth. Mol Cell Neurosci. 2003;24:117–29. - PubMed
    1. Beaubien F, Cloutier JF. Differential expression of Slitrk family members in the mouse nervous system. Dev Dyn. 2009;238:3285–96. - PubMed
    1. Breneman AI, Gifford RH, Dejong MD. Cochlear implantation in children with auditory neuropathy spectrum disorder: long-term outcomes. J Am Acad Audiol. 2012;23:5–17. - PubMed
    1. Heiliger KJ, Hess J, Vitagliano D, Salerno P, Braselmann H, Salvatore G, Ugolini C, Summerer I, Bogdanova T, Unger K, Thomas G, Santoro M, Zitzelsberger H. Novel candidate genes of thyroid tumourigenesis identified in Trk-T1 transgenic mice. Endocr Relat Cancer. 2012;19:409–21. - PubMed

LinkOut - more resources