Fall 2017 Newsletter

Follow our latest updates in our Fall 2017 Newsletter

Fall 2017 Newsletter
7th Residency Announcement

Exciting Residency Announcement!

ACGME approves seventh resident complement; first increase in over 30 years!

Grand Rounds

Grand Rounds and Case Studies

Check out our weekly presentations

OTEP

OTEP

Ophthalmic Technician Education Program

LARGEST STUDY ON CHINESE AMERICANS PUBLISHED

LARGEST STUDY ON CHINESE
AMERICANS PUBLISHED

USC Ophthalmology Researchers Find More
Effective Treatments For Blinding Eye Diseases

EDUCATION

Case Study: Diamonds in the Rough

Ho Heur
Presenter: Tiffany Ho, MD Discussant: J. Martin Heur, MD, PhD
 

History

  • 19-year-old male referred to cornea clinic by his optometrist for bilateral “pigment” in his eyes

Exam Findings

  • BCVA: 20/20 OU
  • IOP: 19 OU
  • Pupils: Round, reactive, no rAPD
  • SLE OU
    • Cornea: limbus to limbus iridescent crystalline deposits most prominent in anterior stroma
  • DFE OU: within normal limits without peripheral pigmentary changes or crystals
Figure 1
Figure 1: Slit lamp photo of the left eye showing refractile cornea crystals most prominent in the anterior stroma

Differential Diagnosis

  • Schnyder central crystalline dystrophy
  • Bietti’s crystalline dystrophy
  • Cystinosis
  • Immunoglobulin deposition
  • Medications: topical fluoroquinolones
  • Dieffenbachia plant sap
  • Lens subluxation

Additional Investigations

  • Comprehensive metabolic panel, CBC with differential, urinalysis, fasting lipid panel and serum electrophoresis: within normal limits
  • Leukocyte cystine content: 3.97 nmol half cystine/mg protein
    • greater than 2.0 nmol/mg consistent with cystinosis

Diagnosis

  • Cystinosis

Pathophysiology

  • Autosomal recessive metabolic condition linked to 17p13 and CTNS gene
  • Defect of lysosomal cystine transport protein (cystinosin) causing accumulation of cystine within lysosomes. Cystine within lysosomes crystallizes in various target organs throughout the body

Treatment

  • Early oral cysteamine for systemic complications of nephrogenic variant
  • Sunglasses or avoidance of bright light, lubrication, and therapeutic contact lens
  • Topical 0.55% cysteamine solution 10 to 12 times per day for corneal crystals
  • POM#1 visual acuity was 20/50, IOP 14 without any anti-glaucoma medications

Prognosis and Future Directions

  • Clinical Variants
    • Infantile nephropathic cystinosis: Patients usually have normal kidney function at birth. Between 4 to 6 months, patients develop Fanconi syndrome with polyuria, polydipsia, failure to thrive, vomiting and/or rickets
    • Late-onset or juvenile cystinosis: onset between 4 to 25 years with slower progression of renal disease
    • Benign, ocular cystinosis: isolated ocular findings
  • Pathognomonic and most frequently described ocular finding is iridescent crystal deposition in cornea and conjunctiva
  • Targets: cornea, conjunctiva, trabecular meshwork, iris, anterior chamber and retina
  • Symptoms: photophobia, recurrent superficial cornea erosions, blepharospasm, filamentary keratopathy, glaucoma, peripheral pigmentary changes in retina (in nephrogenic form only)

References

  • Gahl WA, Thoene JS, Schneider JA. Cystinosis. N Engl J Med. 2002 Jul 11;347(2):111–121.
  • Srinivasan S, Shehadeh-Mashor R, Slomovic AR. Chapter 57 Corneal Manifestations of Metabolic Diseases. Vol Fourth Edition. Elsevier Inc.; 2017. doi:10.1016/B978-0-323-35757-9.00057-1.
  • Palay DA. Chapter 22 Corneal Deposits. Vol Fourth Edition. Elsevier Inc.; 2017. doi:10.1016/B978-0-323-35757-9.00022-4.
  • Seet B, Chan WK, Ang CL. Crystalline keratopathy from Dieffenbachia plant sap. Br J Ophthalmol. 1995;(September):98–100.
  • Emma F, Nesterova G, Langman C, Labbé A, Cherqui S, Goodyer P, et al. Full Review Nephropathic cystinosis : an international consensus document. Nephrol Dial Transplant. 2014;87–94.
  • Cherqui S. Cysteamine therapy : a treatment for cystinosis, not a cure. Kidney Int. 2012 Jan;81(2):127–9.
  • Kaiser-Kupfer MI, Caruso RC, Minkler DS, Gahl WA. Long-term ocular manifestations in nephropathic cystinosis. Arch Ophthalmol. 1986 May;104(5):706–11.
  • Tsilou E, Zhou M, Gahl W, Sieving PC, Chan C, et al. Ophthalmic Manifestations and Histopathology of Infantile Nephropathic Cystinosis: Report of a Case and Review of the Literature. Surv Ophthalmol. 2007 Jan-Feb;52(1)97–105.
  • Hammersmith KM, Nagra PK, Eagle RC, Rapuano CJ. Chapter 18 Congenital Corneal Opacities: Diagnosis and Management. Vol Fourth Edition. Elsevier Inc.; 2017. doi:10.1016/B978-0-323-35757-9.00018-2.
  • Wan WL, Minckler DS, Rao NA. Pupillary-block glaucoma associated with childhood cystinosis. Am J Ophthalmol. 1986 Jun 15;101(6):700–705.
  • Melles RB, Schneider JA, Rao NA, Katz B. Spatial and temporal sequence of corneal crystal deposition in nephropathic cystinosis. Am J Ophthalmol. 1987 Dec 15;104(6):598–604.
  • Kaiser-Kupfer MI, Fujikawa L, Kuwabara T, Jain S, Gahl WA. Removal of Corneal Crystals by Topical Cysteamine in Nephropathic Cystinosis. N Engl J Med. 1987;316:775–779. doi:10.1056/NEJM198703263161304
  • Kaiser-Kupfer MI, Gazzo MA, Datiles MB, Caruso RC, Kuehl EM, Gahl WA. A randomized placebo-controlled trial of cysteamine eye drops in nephropathic cystinosis. Arch Ophthalmol. 1990 May;108(5):689–693.
  • Tsilou E, Rubin BI, Reed G, et al. Nephropathic cystinosis: Posterior segment manifestations and effects of cysteamine therapy. Ophthalmology. 2006;113(6):1002–1009.

Contact

Section Editors

  • Vivek Patel, MD, Associate Professor of Clinical Ophthalmology, Program Director, vivek.patel@med.usc.edu
  • Jesse Berry, MD, Assistant Professor of Clinical Ophthalmology, Associate Program Director, jesse.berry@med.usc.edu
  •  

    Produced by: Monica Chavez, John Daniel, Mellissa Linton and Dr. Vivek Patel
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