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Retina Case: “External Pallor”

Kevin Lowder, MD – PGY3 03/01/2019. Retina Case: “External Pallor”. Patient Presentation. CC Difficulty driving at night HPI

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Retina Case: “External Pallor”

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  1. Kevin Lowder, MD – PGY3 03/01/2019 Retina Case:“External Pallor”

  2. Patient Presentation CC Difficulty driving at night HPI • 21 yo WF with hx of mild nystagmus OU, p/w difficulty driving at night and light sensitivity. Pt was referred to retina by outside ophthalmology practice for suspected retinal dystrophy given abnormal exam and OCT findings.

  3. History (Hx) Past Ocular Hx: Nystagmus OU Ocular Meds: none PMH:Migraines, HTN, IBS, Anxiety Fam Hx: Non-contributory Meds: Linaclotide, Zonisamide, birth control Allergies: NKDA Social Hx: Never smoker, no EtOH or drugs RoS: Negative

  4. Physical Exam

  5. Physical Exam

  6. Posterior Exam (Fundus Photos)

  7. OCT Macula: Foveal Hypoplasia OU Foveal cut OD Foveal cut OS

  8. Assessment • 21 yo WF with ocular albinism • Albinoid external appearance • Light sensitivity • Nystagmus • Foveal hypoplasia • Iris transillumination defects • Suboptimal BCVA

  9. Other Features: • Abnormal decussation of the visual pathways • Normal ~53%; in ocular albinism can be 90% • Strabismus/loss of stereopsis related to abnormal decussation • Can be tested with VEP • Photophobia • Refractive errors (myopia, hyperopia, astigmatism) • Poor vision (ranging from mild to < 20/200)

  10. Main Subsets of Albinism • Oculocutaneous: AR inheritance • Tyrosine-positive: gradually accumulate more pigment • Tyrosine-negative: do not • Chédiak-Higashi syndrome: neutropenia/blood disorder that leads to deadly infections and bleeding • Hermansky-Pudlak syndrome: platelet defect that causes easy bruising and bleeding • (3 P’s: Pigment-less, Platelets, Puerto Ricans) • Ocular albinism: X-linked (most common) • True albinism: fovea is hypoplastic, BCVA is decreased • Albinoidism: (AD) foveal pit is present, VA normal, no nystagmus

  11. Treatment/Plan • Observe/treat symptoms • Consider genetics consult • Hematology consult if any suspicion for blood disorders

  12. References Kim, JM. (2014, December). Albinism. Retrieved from http://eyewiki.aao.org/Albinism. 2017-2018 Basic Clinical Sciences Course, Section 12: Retina and Vitreous. American Academy of Ophthalmology, 2017. Pages 247-8

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