SPATA7 gene


Gene (OMIM no.)
Function of gene/protein
  • Protein: Spermatogenesis-associated protein 7
  • Two isoforms due to alternative splicing
  • Expressed in high levels in the brain, retina and testes
  • Cilia protein localised at the photoreceptor connecting cilium and in the RPE
  • Involved in RPGRIP1 localisation and protein trafficking
Clinical phenotype
(OMIM phenotype no.)
  • Autosomal recessive
Signs for LCA
  • Early onset visual impairment with poor visual pursuit (during infancy)
  • Roving nystagmus
  • Amaurotic pupils
  • Normal appearing fundus initially
  • Progresses to severe widespread RPE atrophy with minimal intra-retinal pigmentation
  • Relative parafoveal preservation
  • Optic disc pallor
  • Vessel attenuation
  • Keratoconus and early onset cataract reported
Signs for RP
  • Milder EOSRD phenotype with minimal/no nystagmus due to relatively preserved cone function initially
  • Vessel attenuation
  • Widespread RPE degeneration
  • Bone-spicule pigmentation in the mid-periphery (sparse)
  • Optic disc pallor
Visual functionLCA:
  • Poor visual function from infancy in LCA cases
  • VA usually worse than 6/60 (LogMAR 1.00)
  • Severely constricted VF (central 5° on GVF)
  • Stable/slowly progressive
  • Nyctalopia during early childhood
  • Relatively preserved VA initially
  • Progressive VA and VF loss
  • BCVA deteriorates to 6/60 (LogMAR 1.00) or worse over time
  • Visual field restriction to central 5° on GVF
Systemic features
  • No extraocular features reported
Key investigations
  • ERG: absent responses/severe rod-cone dystrophy
  • FAF: Parafoveal ring of increased AF surrounded by diffuse hypo-AF beyond the ring
  • OCT: Preserved foveal ellipsoid zone but outer retinal loss parafoveally
Molecular diagnosisNext generation sequencing
  • Targeted gene panels (retinal)
  • Whole exome sequencing
  • Whole genome sequencing
Therapies under research
Further information

Jump to top


  1.  Eblimit A, Agrawal SA, Thomas K, et al. Conditional loss of Spata7 in photoreceptors causes progressive retinal degeneration in mice [published correction appears in Exp Eye Res. 2018 Mar 23;171:119]. Exp Eye Res. 2018;166:120-130
  2.  Eblimit A, Agrawal SA, Thomas K, et al. Corrigendum to “Conditional loss of Spata7 in photoreceptors causes progressive retinal degeneration in mice” [Exp. Eye Res. 166 (2018) 120-130]. Exp Eye Res. 2018;171:119
  3.  Eblimit A, Nguyen TM, Chen Y, et al. Spata7 is a retinal ciliopathy gene critical for correct RPGRIP1 localization and protein trafficking in the retina. Hum Mol Genet. 2015;24(6):1584-1601
  4.  Zahid S, Branham K, Schlegel D, et al. Retinal Dystrophy Gene Atlas. Springer; 2018
  5.  Mackay DS, Ocaka LA, Borman AD, et al. Screening of SPATA7 in patients with Leber congenital amaurosis and severe childhood-onset retinal dystrophy reveals disease-causing mutations. Invest Ophthalmol Vis Sci. 2011;52(6):3032-3038
  6.  Wang H, den Hollander AI, Moayedi Y, et al. Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa [published correction appears in Am J Hum Genet. 2010 Feb;86(2):293. Abboud, Emad B [added]; Al-Rajhi, Ali A [added]]. Am J Hum Genet. 2009;84(3):380-387
  7.  Perrault I, Hanein S, Gerard X, et al. Spectrum of SPATA7 mutations in Leber congenital amaurosis and delineation of the associated phenotype. Hum Mutat. 2010;31(3):E1241-E1250

Jump to top

Updated on November 30, 2020
Was this article helpful?