PRSS56 gene


Gene (OMIM No.)
Function of gene/protein
  • Protein: serine protease 56
  • Important for eye development, particularly pertaining to the size of the eye
  • Exact function is unknown
Clinical phenotype
(OMIM phenotype no.)
  • Microphthalmia, isolated 6 (#613517)
  • Autosomal recessive
Ocular features
  • Microphthalmia, anophthalmia, coloboma (MAC) spectrum
  • Severe hypermetropia (median +16.5D; range +7.75 to +22D)
  • Variable anterior chamber depth (normal and shallow chambers have been reported)
  • Thickend sclera and choroid
  • Elevated papillomacular folds
  • Macular pigment migration
  • Crowded optic disc
  • Uveal effusions
Systemic features
  • No extraocular anomalies
Key investigations
  • B-scan USS to measure axial length to document microphthalmia and detecting possible uveal effusions
  • USS biomicroscopy/anterior segment OCT to measure corneal diameter, anterior chamber depth and anteroposterior length of the lens
  • Electrophysiology
  • MRI brain and orbit
Molecular diagnosisNext generation sequencing
  • Targeted gene panels (MAC)
  • Whole genome sequencing
Therapies under research
  • None at present
Further information

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  1.  Fuchs J, Holm K, Vilhelmsen K, Rosenberg T, Scherfig E, Fledelius HC. Hereditary high hypermetropia in the Faroe Islands. Ophthalmic Genet. 2005;26(1):9‐15
  2.  Gal A, Rau I, El Matri L, et al. Autosomal-recessive posterior microphthalmos is caused by mutations in PRSS56, a gene encoding a trypsin-like serine protease. Am J Hum Genet. 2011;88(3):382‐390
  3.  Paylakhi S, Labelle-Dumais C, Tolman NG, et al. Müller glia-derived PRSS56 is required to sustain ocular axial growth and prevent refractive error. PLoS Genet. 2018;14(3):e1007244
  4.  Nowilaty SR, Khan AO, Aldahmesh MA, Tabbara KF, Al-Amri A, Alkuraya FS. Biometric and molecular characterization of clinically diagnosed posterior microphthalmos. Am J Ophthalmol. 2013;155(2):361‐372

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Updated on November 30, 2020

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