ATOH7 gene


Gene (OMIM No.)
Function of gene/protein
  • Protein: Atonal bHLH transcription factor 7
  • Involved in the development of photoreceptors, retinal ganglion cells and optic nerve
  • Regulates other genes by binding to specific DNA regions (transcription factor)
Clinical phenotype
(OMIM phenotype no.)
  • Persistent hyperplastic primary vitreous, autosomal recessive (#221900)
  • Autosomal recessive
Ocular features
Systemic features
  • No extraocular anomalies
Key investigations
  • B-scan USS to measure axial length to document microphthalmia and detect any posterior segment abnormalities if cataract is present
  • Electrophysiology
  • MRI brain and orbit
  • Systemic assessment with a paediatrician and other relevant specialists
Molecular diagnosisNext generation sequencing
  • Targeted gene panels (MAC)
  • Whole genome sequencing
  • Multidisciplinary approach
Therapies under research
  • None at present
Further information

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  1.  Brown NL, Dagenais SL, Chen CM, Glaser T. Molecular characterization and mapping of ATOH7, a human atonal homolog with a predicted role in retinal ganglion cell development. Mamm Genome. 2002;13(2):95‐101
  2.  Brown NL, Patel S, Brzezinski J, Glaser T. Math5 is required for retinal ganglion cell and optic nerve formation. Development. 2001;128(13):2497‐2508
  3.  Prasov L, Masud T, Khaliq S, et al. ATOH7 mutations cause autosomal recessive persistent hyperplasia of the primary vitreous. Hum Mol Genet. 2012;21(16):3681‐3694
  4.  Khan K, Logan CV, McKibbin M, et al. Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defects. Hum Mol Genet. 2012;21(4):776‐783

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Updated on November 30, 2020
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