PRSS56 gene

Overview

Gene (OMIM No.)	PRSS56 (#613858)
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)
Inheritance	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 diagnosis	Next generation sequencing Targeted gene panels (MAC) Whole genome sequencing
Management	Ocular Management of MAC
Therapies under research	None at present
Further information	OMIM

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
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
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
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

Updated on November 30, 2020