title: MULTIMODAL IMAGING OF A FAMILY WITH SPINOCEREBELLAR ATAXIA TYPE 7 DEMONSTRATING PHENOTYPIC VARIATION AND PROGRESSION OF RETINAL DEGENERATION.
abstract: OBJECTIVE
  To report the variability and progression of clinical presentation in three family members with spinocerebellar ataxia Type 7 including early recognizable features on retinal imaging and magnetic resonance imaging.
  
  
  METHODS
  Retrospective case series.
  
  
  RESULTS
  The proband, Patient 1 (mother) presented at age 26 with light perception vision. Initial examination was significant for optic disc pallor, vascular attenuation, and central macular atrophy. Two years later, her vision declined to no light perception, and fundus examination demonstrated marked progression of macular atrophy and peripheral bone spicule formation. Seven years after the onset of vision loss, neurologic examination demonstrated ataxia, dysarthria, and slowed saccades. Genetic testing of ATXN7 identified heterozygous 61-CAG trinucleotide repeat expansion confirming the diagnosis of spinocerebellar ataxia Type 7. Patient 2 (son) presented at age 11 with visual acuity of 20/300 bilaterally and decreased color vision. Funduscopic examination was notable for disc pallor, vascular attenuation, and peripheral pigmentary changes. Electroretinography demonstrated diminished rod and cone function, and Goldmann visual field testing revealed paracentral scotoma. Patient 3 (daughter) presented at age 14 with visual acuity of 20/50 bilaterally and minimal funduscopic changes. The only significant ophthalmic finding was retinal thinning with atrophy of the outer nuclear layer and subfoveal ellipsoid zone on optical coherence tomography. Early cerebellar volume loss was also noted on magnetic resonance imaging.
  
  
  CONCLUSIONS
  The clinical presentation of spinocerebellar ataxia Type 7 can vary widely even within the same family. In individuals with vision loss and normal fundus examination, careful evaluation of optical coherence tomography and brain magnetic resonance imaging facilitates early diagnosis and genetic testing.
authors.affiliation: Departments of *Ophthalmology, and †Human Genetics, Emory School of Medicine, Atlanta, Georgia.
authors.forename: Joshua D
authors.initials: JD
authors.lastname: Levinson
authors.forename: Jiong
authors.initials: J
authors.lastname: Yan
authors.forename: Scott R
authors.initials: SR
authors.lastname: Lambert
authors.forename: Suma P
authors.initials: SP
authors.lastname: Shankar
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D018450:Disease Progression; D005260:Female; D006801:Humans; D008297:Male; D064847:Multimodal Imaging; D012162:Retinal Degeneration / Q000000981:diagnostic imaging / Q000473:pathology* / Q000503:physiopathology; D012189:Retrospective Studies; D020754:Spinocerebellar Ataxias / Q000503:physiopathology*