Hemoglobinopathy Retinopathy Workup

Updated: Dec 14, 2021
  • Author: Brian A Phillpotts, MD; Chief Editor: Hampton Roy, Sr, MD  more...
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Laboratory Studies

Laboratory studies may be performed per internal medicine/hematology consultation, as follows:

  • Hemoglobin electrophoresis

  • Oxygen saturation

  • Systemic hydration/acidosis


Imaging Studies

Imaging studies may be performed per internal medicine/hematology consultation.


Other Tests

Perform fluorescein angiography when the examination does not explain the degree of vision loss.

Perform ocular B-scan ultrasonography when unable to adequately visualize the retina.

Consider cerebral vascular accident (CVA).

Consider retinal vascular emboli.


Histologic Findings

Histologic findings may include the following:

  • Retinal pigment epithelium (RPE) atrophy

  • RPE hyperplasia

  • RPE migration into partially degenerated retina and perivascular location

  • Retinal thinning with loss of outer retinal layers

  • Retinal detachment with cystic degeneration

  • Retinal layers may be disorganized.

  • Pigment-laden macrophages are seen within and beneath the retina.

  • Pupillary space may be filled by a thin fibrovascular membrane.

  • Cataractous changes may be noted.

  • Thick-walled blood vessels often are filled with sickled erythrocytes.

  • Proliferation of blood vessels may be seen in the retina and the vitreous, leading to intravitreal neovascularization. [23]