PMID- 34977425
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20220716
IS  - 2451-9936 (Electronic)
IS  - 2451-9936 (Linking)
VI  - 25
DP  - 2022 Mar
TI  - Long-term retinal imaging of a case of suspected congenital rubella infection.
PG  - 101241
LID - 10.1016/j.ajoc.2021.101241 [doi]
LID - 101241
AB  - PURPOSE: Many retinal disorders present with pigmentary retinopathy, most of 
      which are progressive conditions. Here we present over nine years of follow up on 
      a case of stable pigmentary retinopathy that is suspected to stem from a 
      congenital rubella infection. Parafoveal cone photoreceptors were tracked through 
      this period to gain insight into photoreceptor disruption in this pigmentary 
      retinopathy. METHODS: The patient was examined at 8 visits spanning a total of 
      111 months. Examination at baseline included clinical fundus examination, 
      full-field electroretinography (ERG), kinetic visual field assessment (Goldmann), 
      and best corrected visual acuity; all of these except ERG were repeated at follow 
      up visits. Imaging was performed with fundus photography, spectral-domain optical 
      coherence tomography (SD-OCT) and confocal adaptive optics scanning light 
      ophthalmoscopy (AOSLO). For the latter four time points AOSLO imaging also 
      included split-detector imaging. RESULTS: There were no defects in hearing or 
      cardiac health found in this patient. There were minimal visual deficits found at 
      baseline, with mild rod suppression on ERG; best corrected visual acuity was 
      20/25 OD and 20/20 OS at baseline, which was stable throughout the follow-up 
      period. Retinal thickness as measured by OCT was within the normal range, though 
      foveal hypoplasia was present and outer nuclear layer thickness was slightly 
      below the normal range at all time points. Cone density was relatively stable 
      throughout the follow-up period. A number of cones were non-reflective when 
      observed with confocal AOSLO imaging and density was markedly lower than expected 
      values (foveal cone density was 43,782 cones/mm(2) on average). Genetic analysis 
      revealed no causative variations explaining the phenotype. CONCLUSIONS AND 
      IMPORTANCE: This patient appears to have a stable pigmentary retinopathy. This 
      case is likely due to a congenital insult, rather than progressive retinal 
      disease. This finding of stability agrees with other reports of rubella 
      pigmentary retinopathy. Imaging with AOSLO enabled observation of two notable 
      phenotypic features. First is the observation of dark cones, which are seen in 
      many retinal disorders including color vision defects and degenerative retinal 
      disease. Second, the cone density is well below what is expected - this is 
      especially interesting as this patient has near-normal visual acuity despite this 
      greatly decreased number of normally-waveguiding cones in the fovea.
CI  - (c) 2021 The Authors.
FAU - Langlo, Christopher S
AU  - Langlo CS
AD  - Department of Cell Biology, Neurobiology and Anatomy, Medical College of 
      Wisconsin, Milwaukee, WI, USA.
FAU - Trotter, Alana
AU  - Trotter A
AD  - Department of Ophthalmology and Visual Sciences, University of Wisconsin, 
      Madison, WI, USA.
FAU - Reddi, Honey V
AU  - Reddi HV
AD  - Precision Medicine Laboratory, Medical College of Wisconsin, Milwaukee, WI, USA.
FAU - Schilter, Kala F
AU  - Schilter KF
AD  - Precision Medicine Laboratory, Medical College of Wisconsin, Milwaukee, WI, USA.
FAU - Tyler, Rebecca C
AU  - Tyler RC
AD  - Precision Medicine Laboratory, Medical College of Wisconsin, Milwaukee, WI, USA.
FAU - Udani, Rupa
AU  - Udani R
AD  - Precision Medicine Laboratory, Medical College of Wisconsin, Milwaukee, WI, USA.
FAU - Neitz, Maureen
AU  - Neitz M
AD  - Department of Ophthalmology, University of Washington, Seattle, WA, USA.
FAU - Carroll, Joseph
AU  - Carroll J
AD  - Department of Cell Biology, Neurobiology and Anatomy, Medical College of 
      Wisconsin, Milwaukee, WI, USA.
AD  - Department of Ophthalmology and Visual Sciences, Medical College of Wisconsin, 
      Milwaukee, WI, USA.
FAU - Connor, Thomas B
AU  - Connor TB
AD  - Department of Ophthalmology and Visual Sciences, Medical College of Wisconsin, 
      Milwaukee, WI, USA.
LA  - eng
GR  - C06 RR016511/RR/NCRR NIH HHS/United States
GR  - P30 EY001730/EY/NEI NIH HHS/United States
GR  - R01 EY017607/EY/NEI NIH HHS/United States
PT  - Journal Article
DEP - 20211207
PL  - United States
TA  - Am J Ophthalmol Case Rep
JT  - American journal of ophthalmology case reports
JID - 101679941
PMC - PMC8688893
OTO - NOTNLM
OT  - Adaptive optics scanning light ophthalmoscopy
OT  - Cone photoreceptors
OT  - Pigmentary retinopathy
OT  - Rubella retinopathy
COIS- J. Carroll receives research support from OptoVue, AGTC, and Meira GTx, has 
      financial interest in Translational Imaging Innovations, and is a paid consultant 
      for Meira GTx. The following authors have no financial disclosures: CSL, AT, HR, 
      KS, RT, RU, MN, TBC.
EDAT- 2022/01/04 06:00
MHDA- 2022/01/04 06:01
PMCR- 2021/12/07
CRDT- 2022/01/03 05:52
PHST- 2020/11/30 00:00 [received]
PHST- 2021/07/16 00:00 [revised]
PHST- 2021/12/06 00:00 [accepted]
PHST- 2022/01/03 05:52 [entrez]
PHST- 2022/01/04 06:00 [pubmed]
PHST- 2022/01/04 06:01 [medline]
PHST- 2021/12/07 00:00 [pmc-release]
AID - S2451-9936(21)00250-4 [pii]
AID - 101241 [pii]
AID - 10.1016/j.ajoc.2021.101241 [doi]
PST - epublish
SO  - Am J Ophthalmol Case Rep. 2021 Dec 7;25:101241. doi: 10.1016/j.ajoc.2021.101241. 
      eCollection 2022 Mar.