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Chronic Kidney Disease

A 72-Year-Old Kidney Transplant Recipient With Visual Changes

Educational Objective
Based on this clinical scenario and the accompanying image, understand how to arrive at a correct diagnosis.

1 Credit CME

JAMA Ophthalmology

Published Online: May 4, 2023

JAMA Ophthalmology Clinical Challenge

Article Information and Disclosures

M. Tariq Bhatti, MD¹;

Aubrey L. Gilbert, MD, PhD²;

Thomas N. Hwang, MD, PhD³

Author Affiliations

¹Department of Ophthalmology, The Permanente Medical Group, Kaiser Permanente–Northern California, Roseville
²Department of Ophthalmology, The Permanente Medical Group, Kaiser Permanente–Northern California, Vallejo
³Department of Ophthalmology, The Permanente Medical Group, Kaiser Permanente–Northern California, Redwood City

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A 72-year-old woman was referred for an eye examination because of visual changes in the left eye. Her medical history was notable for end-stage kidney disease requiring a kidney transplant at age 50 years and a second transplant at age 65 years. She had received her medical care at outside facilities, the records of which were not available. She could not recall being given any precise diagnosis but reported having proteinuria since age 7 years. Her other medical conditions included hyperlipidemia, arterial hypertension, and pulmonary Mycobacterium avium complex infection. She was taking tacrolimus, amlodipine, atorvastatin, ethambutol, rifampin, and clarithromycin. Her family history was unremarkable. She had 2 healthy adult children.

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A 72-year-old woman was referred for an eye examination because of visual changes in the left eye. Her medical history was notable for end-stage kidney disease requiring a kidney transplant at age 50 years and a second transplant at age 65 years. She had received her medical care at outside facilities, the records of which were not available. She could not recall being given any precise diagnosis but reported having proteinuria since age 7 years. Her other medical conditions included hyperlipidemia, arterial hypertension, and pulmonary Mycobacterium avium complex infection. She was taking tacrolimus, amlodipine, atorvastatin, ethambutol, rifampin, and clarithromycin. Her family history was unremarkable. She had 2 healthy adult children.

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Article Information

Corresponding Author: M. Tariq Bhatti, MD, Department of Ophthalmology, The Permanente Medical Group, Kaiser Permanente–Northern California, 1011 Riverside Ave, 2nd Floor, Roseville, CA 95678 (muhammad.t.bhatti@kp.org).

Published Online: May 4, 2023. doi:10.1001/jamaophthalmol.2023.1122

Conflict of Interest Disclosures: None reported.

Additional Contributions: We thank the patient for granting permission to publish this information.

References

Rieger G . On the clinical picture of Handmann’s anomaly of the optic nerve Morning glory syndrome? Article in German. Klin Monbl Augenheilkd. 1977;170(5):697-706.PubMed Google Scholar

Weaver RG , Cashwell LF , Lorentz W , Whiteman D , Geisinger KR , Ball M . Optic nerve coloboma associated with renal disease. Am J Med Genet. 1988;29(3):597-605. doi:10.1002/ajmg.1320290318 PubMed Google Scholar Crossref

Sanyanusin P , Schimmenti LA , McNoe LA , et al. Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux. Nat Genet. 1995;9(4):358-364. doi:10.1038/ng0495-358 PubMed Google Scholar Crossref

Bower MA , Schimmenti LA , Eccles MR . PAX2-related disorder. In: Adam MP , Everman DB , Mirzaa GM , et al, eds. GeneReviews. University of Washington; 2007:1993-2023.

Parsa CF , Silva ED , Sundin OH , et al. Redefining papillorenal syndrome: an underdiagnosed cause of ocular and renal morbidity. Ophthalmology. 2001;108(4):738-749. doi:10.1016/S0161-6420(00)00661-8 PubMed Google Scholar Crossref

Parsa CF , Cheeseman EW Jr , Maumenee IH . Demonstration of exclusive cilioretinal vascular system supplying the retina in man: vacant discs. Trans Am Ophthalmol Soc. 1998;96:95-106.PubMed Google Scholar

Schimmenti LA . Renal coloboma syndrome. Eur J Hum Genet. 2011;19(12):1207-1212. doi:10.1038/ejhg.2011.102 PubMed Google Scholar Crossref

Slusher MM , Weaver RG Jr , Greven CM , Mundorf TK , Cashwell LF . The spectrum of cavitary optic disc anomalies in a family. Ophthalmology. 1989;96(3):342-347. doi:10.1016/S0161-6420(89)32886-7 PubMed Google Scholar Crossref

Wang Q , Fang WH , Krupinski J , Kumar S , Slevin M , Kumar P . Pax genes in embryogenesis and oncogenesis. J Cell Mol Med. 2008;12(6A):2281-2294. doi:10.1111/j.1582-4934.2008.00427.x PubMed Google Scholar Crossref

Khan AO , Nowilaty SR . Early diagnosis of the papillorenal syndrome by optic disc morphology. J Neuroophthalmol. 2005;25(3):209-211. doi:10.1097/01.wno.0000177303.67715.74 PubMed Google Scholar Crossref

AMA CME Accreditation Information

Credit Designation Statement: The American Medical Association designates this Journal-based CME activity activity for a maximum of 1.00  AMA PRA Category 1 Credit(s)™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.

Successful completion of this CME activity, which includes participation in the evaluation component, enables the participant to earn up to:

1.00 Medical Knowledge MOC points in the American Board of Internal Medicine's (ABIM) Maintenance of Certification (MOC) program;;
1.00 Self-Assessment points in the American Board of Otolaryngology – Head and Neck Surgery’s (ABOHNS) Continuing Certification program;
1.00 MOC points in the American Board of Pediatrics’ (ABP) Maintenance of Certification (MOC) program;
1.00 Lifelong Learning points in the American Board of Pathology’s (ABPath) Continuing Certification program; and
1.00 credit toward the CME [and Self-Assessment requirements] of the American Board of Surgery’s Continuous Certification program

It is the CME activity provider's responsibility to submit participant completion information to ACCME for the purpose of granting MOC credit.