title: Congenital stationary night blindness with hypoplastic discs, negative electroretinogram and thinning of the inner nuclear layer.
abstract: OBJECTIVE
  To describe congenital stationary night blindness (CSNB) with negative electroretinogram, hypoplastic discs, nystagmus and thinning of the inner nuclear layer (INL).
  
  
  METHODS
  Retinal structure was analyzed qualitatively with spectral domain optical coherence tomography and wide field imaging. Retinal function was evaluated with full-field electroretinography (ffERG). Molecular genetic testing included next-generation sequencing (NGS) of the known genes involved in CSNB.
  
  
  RESULTS
  Patients presented with CSNB presented with nystagmus, high myopia, hypoplastic discs and negative ffERG with no measurable rod response. The retinas appeared normal and automated segmentation of retinal layers demonstrated a relative reduction of thickness of the INL. There was no significant change in the ffERG after prolonged 2 hour dark adaptation compared to standard 30 minute dark adaptation. Affected family members harboured the homozygous 1-bp deletion c.2394delC in exon 18 of the TRPM1 gene, whereas their unaffected parents were heterozygous carriers.
  
  
  CONCLUSIONS
  This data expands the genotype and phenotype spectrum of CSNB. The lack of improvement of rod responses after prolonged dark adaptation, together with thinning of the INL, is compatible with postreceptoral transmission dysfunction in the bipolar cells. Such knowledge may prove useful in future development of treatment for outer retinal dystrophies, using opsin genes to restore light responses in survivor neurons in the inner retina.
authors.affiliation: Vitreoretinal Division, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia.
authors.forename: Abdulaziz Abdulrahman
authors.initials: AA
authors.lastname: Al Oreany
authors.affiliation: Vitreoretinal Division, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia.
authors.forename: Abdulaziz
authors.initials: A
authors.lastname: Al Hadlaq
authors.affiliation: Vitreoretinal Division, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia. patrik.schatz@med.lu.se.|Department of Ophthalmology, Clinical Sciences, Scane County University Hospital, University of Lund, Lund, Sweden. patrik.schatz@med.lu.se.|Executive Medical Department, King Khaled Eye Specialist Hospital, Al-Oruba Street, PO Box 7191, Riyadh, 11462, Saudi Arabia. patrik.schatz@med.lu.se.
authors.forename: Patrik
authors.initials: P
authors.lastname: Schatz
mesh_terms: D003241:Consanguinity; D003623:Dark Adaptation; D004200:Diseases in Twins / Q000235:genetics*; D004596:Electroretinography; D005124:Eye Abnormalities / Q000000981:diagnostic imaging / Q000235:genetics* / Q000503:physiopathology; D015785:Eye Diseases, Hereditary / Q000000981:diagnostic imaging / Q000235:genetics* / Q000503:physiopathology; D016368:Frameshift Mutation; D040181:Genetic Diseases, X-Linked / Q000000981:diagnostic imaging / Q000235:genetics* / Q000503:physiopathology; D005838:Genotype; D006801:Humans; D008297:Male; D009216:Myopia / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000235:genetics* / Q000503:physiopathology; D009755:Night Blindness / Q000000981:diagnostic imaging / Q000235:genetics* / Q000503:physiopathology; D009759:Nystagmus, Pathologic / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D009898:Optic Disk / Q000002:abnormalities*; D010375:Pedigree; D016133:Polymerase Chain Reaction; D051245:Retinal Bipolar Cells / Q000473:pathology*; D012164:Retinal Diseases / Q000000981:diagnostic imaging / Q000235:genetics* / Q000503:physiopathology; D012189:Retrospective Studies; D050053:TRPM Cation Channels / Q000235:genetics*; D041623:Tomography, Optical Coherence; D014792:Visual Acuity / Q000502:physiology; D055815:Young Adult
chemical_list: D050053:TRPM Cation Channels; C492059:TRPM1 protein, human
keywords: Congenital stationary night blindness; Full-field electroretinography; Optic disc hypoplasia; Optical coherence tomography