title: SPATA7: Evolving phenotype from cone-rod dystrophy to retinitis pigmentosa.
abstract: SPATA7 mutations have been associated with different autosomal recessive retinal degeneration phenotypes. Long-term follow-up has not been described in detail.
  
  
  
  A Hispanic patient with SPATA7 mutations was evaluated serially over a 12-year period with kinetic and static chromatic perimetry, optical coherence tomography (OCT), and fundus autofluorescence (AF) imaging. Electroretinography (ERG) was performed at the initial visit.
  
  
  
  The patient was homozygous for a mutation in SPATA7 (p.V458fs). At age 9, the ERG showed an abnormally reduced but preserved rod b-wave and no detectable cone signals. There were two islands of vision: a midperipheral island with greater cone than rod dysfunction and a central island with normal cone but no rod function. Serial measures of rod and cone vision and co-localized retinal structure showed that the midperipheral island slowly became undetectable. By age 21, only the central island and its cone function remained, but it had become more abnormal in structure and function.
  
  
  
  The disease resulting from SPATA7 mutations in this patient initially presented as a cone-rod dystrophy (CRD), but changed over time into a phenotype more reminiscent of late-stage retinitis pigmentosa (RP). The differential diagnosis for both CRD and RP should include this rare molecular cause of autosomal retinal degeneration. An evolving phenotype complicates not only clinical diagnosis and patient counselling but also future strategies aimed at treating specific retinal regions.
authors: a Scheie Eye Institute, Department of Ophthalmology , Perelman School of Medicine at the University of Pennsylvania , Philadelphia , Pennsylvania , USA.
authors: Rodrigo
authors: R
authors: Matsui
authors: a Scheie Eye Institute, Department of Ophthalmology , Perelman School of Medicine at the University of Pennsylvania , Philadelphia , Pennsylvania , USA.
authors: David B
authors: DB
authors: McGuigan Iii
authors: a Scheie Eye Institute, Department of Ophthalmology , Perelman School of Medicine at the University of Pennsylvania , Philadelphia , Pennsylvania , USA.
authors: Michaela L
authors: ML
authors: Gruzensky
authors: a Scheie Eye Institute, Department of Ophthalmology , Perelman School of Medicine at the University of Pennsylvania , Philadelphia , Pennsylvania , USA.
authors: Tomas S
authors: TS
authors: Aleman
authors: a Scheie Eye Institute, Department of Ophthalmology , Perelman School of Medicine at the University of Pennsylvania , Philadelphia , Pennsylvania , USA.
authors: Sharon B
authors: SB
authors: Schwartz
authors: a Scheie Eye Institute, Department of Ophthalmology , Perelman School of Medicine at the University of Pennsylvania , Philadelphia , Pennsylvania , USA.
authors: Alexander
authors: A
authors: Sumaroka
authors: b McGill Ocular Genetics Laboratory (MOGL), Departments of Paediatric Surgery, Human Genetics, and Ophthalmology , Montreal Children's Hospital, McGill University Health Center , Montreal , Quebec , Canada.
authors: Robert K
authors: RK
authors: Koenekoop
authors: a Scheie Eye Institute, Department of Ophthalmology , Perelman School of Medicine at the University of Pennsylvania , Philadelphia , Pennsylvania , USA.
authors: Artur V
authors: AV
authors: Cideciyan
authors: a Scheie Eye Institute, Department of Ophthalmology , Perelman School of Medicine at the University of Pennsylvania , Philadelphia , Pennsylvania , USA.
authors: Samuel G
authors: SG
authors: Jacobson
mesh_terms: D002648:Child; D000071700:Cone-Rod Dystrophies / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D004268:DNA-Binding Proteins / Q000235:genetics*; D003937:Diagnosis, Differential; D004596:Electroretinography; D005500:Follow-Up Studies; D006720:Homozygote; D006801:Humans; D008297:Male; D009154:Mutation; D061848:Optical Imaging; D010641:Phenotype; D012160:Retina / Q000502:physiology; D012174:Retinitis Pigmentosa / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D041623:Tomography, Optical Coherence; D058609:Visual Field Tests
chemical_list: D004268:DNA-Binding Proteins; C482323:SPATA7 protein, human
keywords: Cilium; cone; cone-rod dystrophy; optical coherence tomography; perimetry; rod