PMID- 38055904
OWN - NLM
STAT- Publisher
LR  - 20231206
IS  - 1937-1578 (Electronic)
IS  - 1935-1089 (Linking)
DP  - 2023 Dec 5
TI  - 32-year-old diabetic patient with progressive vision loss and crystalline 
      retinopathy.
LID - 10.1097/ICB.0000000000001519 [doi]
AB  - PURPOSE: To report the case of severe bilateral retinal vascular occlusion in a 
      patient with hyperoxalosis and chronic renal failure. METHODS: Observational case 
      report. Medical and imaging records were retrospectively reviewed. The patient 
      was imaged with ultra-widefield (UWF) fundus photography and fluorescein 
      angiography (UWF-FA), cross sectional and en face spectral-domain optical 
      coherence tomography (SD-OCT), and OCT angiography. RESULTS: A 32-year-old 
      diabetic patient receiving peritoneal dialysis was referred because of severe 
      vision loss. UWF color fundus photography showed diffuse sclerotic retinal 
      vessels and diffuse intraretinal crystals in both eyes. UWF-FA illustrated 
      near-complete retinal vascular occlusion and capillary wipe out in both eyes. 
      SD-OCT demonstrated diffuse inner and middle retina thinning in both eyes and 
      multiple intraretinal hyperreflective foci consistent with crystalline deposits 
      in all retina layers of both eyes. OCT angiography revealed severe capillary and 
      large vessel non-perfusion in the superficial and deep retinal capillary plexus 
      of each eye. The serum oxalate levels were increased at 28 micromol/L (reference 
      range < 2 micromol/L) and genetic testing was positive for a heterozygous mutation of 
      the AGXT (Alanine-Glyoxylate Amino Transferase) gene that causes type 1 autosomal 
      recessive primary hyperoxaluria. CONCLUSION: A diagnosis of hyperoxalosis causing 
      severe retinal vascular occlusion was rendered. Hyperoxalosis was the result of 
      multiple factors including heterozygous AGXT mutation, chronic renal failure 
      insufficiently treated with peritoneal dialysis, and a diet high in oxalate. This 
      case highlights the importance of ruling out retinal oxalosis in patients on 
      peritoneal dialysis in order to initiate prompt hemodialysis and prevent severe 
      retinal vascular occlusion.
FAU - Bousquet, Elodie
AU  - Bousquet E
AD  - Retinal Disorders and Ophthalmic Genetics Division, Stein Eye Institute, 
      University of California Los Angeles, David Geffen School of Medicine at UCLA, 
      Los Angeles, California, United States.
AD  - Department of Ophthalmology, University of Paris Cite, Lariboisiere Hospital, 
      Assistance Publique-Hopitaux de aris, France.
FAU - Khanna, Sheena
AU  - Khanna S
AD  - Retinal Disorders and Ophthalmic Genetics Division, Stein Eye Institute, 
      University of California Los Angeles, David Geffen School of Medicine at UCLA, 
      Los Angeles, California, United States.
FAU - Song, Delu
AU  - Song D
AD  - Shiley Eye Institute, The Viterbi Family Department of Ophthalmology, UC San 
      Diego, La Jolla, CA.
FAU - Borooah, Shyamanga
AU  - Borooah S
AD  - Shiley Eye Institute, The Viterbi Family Department of Ophthalmology, UC San 
      Diego, La Jolla, CA.
FAU - Ginsberg, Charles
AU  - Ginsberg C
AD  - Department of Nephrology, UC San Diego, La Jolla, CA.
FAU - King, Andrew
AU  - King A
AD  - Department of Nephrology, Scripps Clinic, La Jolla, CA.
FAU - Goldbaum, Michael
AU  - Goldbaum M
AD  - Shiley Eye Institute, The Viterbi Family Department of Ophthalmology, UC San 
      Diego, La Jolla, CA.
FAU - Nudleman, Eric
AU  - Nudleman E
AD  - Shiley Eye Institute, The Viterbi Family Department of Ophthalmology, UC San 
      Diego, La Jolla, CA.
FAU - Sarraf, David
AU  - Sarraf D
AD  - Retinal Disorders and Ophthalmic Genetics Division, Stein Eye Institute, 
      University of California Los Angeles, David Geffen School of Medicine at UCLA, 
      Los Angeles, California, United States.
AD  - Greater Los Angeles VA Healthcare Center, Los Angeles, California, United States.
LA  - eng
PT  - Journal Article
DEP - 20231205
PL  - United States
TA  - Retin Cases Brief Rep
JT  - Retinal cases & brief reports
JID - 101298744
SB  - IM
COIS- Conflict of interest: no conflict of interest in relation with this case report.
EDAT- 2023/12/06 18:42
MHDA- 2023/12/06 18:42
CRDT- 2023/12/06 15:52
PHST- 2023/12/06 18:42 [medline]
PHST- 2023/12/06 18:42 [pubmed]
PHST- 2023/12/06 15:52 [entrez]
AID - 01271216-990000000-00254 [pii]
AID - 10.1097/ICB.0000000000001519 [doi]
PST - aheadofprint
SO  - Retin Cases Brief Rep. 2023 Dec 5. doi: 10.1097/ICB.0000000000001519.