Parafoveal acute middle maculopathy (PAMM) in sickle cell disease after discontinuation of hydroxyurea

Abstract

Purpose: Paracentral acute middle maculopathy (PAMM) is a rare ophthalmologic emergency involving the intermediate and deep retinal capillary plexus that supply the retina's middle layers. This case report describes an episode of PAMM in a patient with sickle cell disease (SCD) to demonstrate the importance of early diagnosis, review potential pathophysiologic mechanisms, and finally discuss appropriate management in this patient population.

Observations: A 33-year-old black female with SCD, who had recently discontinued disease-modifying therapy with hydroxyurea, presented with a central scotoma of the left eye. Examination showed superficial opacification and whitening of the temporal perifoveal macula. After an initial diagnosis of central retinal artery occlusion she was admitted for a stroke workup. MRI was negative for stroke, and the patient was discharged after undergoing a red blood cell exchange (RBCX). Follow-up exam and optical coherence tomography (OCT) findings were more consistent with PAMM.

Conclusions and importance: To our knowledge, this is the first report of PAMM after discontinuation of hydroxyurea in preparation for pregnancy. It highlights the importance of a multidisciplinary approach when treating peripartum patients with SCD and the need for further research regarding vaso-occlusive prophylactic agents and their effects in pregnancy to minimize morbidity during family planning.

Keywords: Family planning; Hydroxyurea; Paracentral acute middle maculopathy; Pregnancy; Sickle cell disease.

Fig. 1

Fundus photo of the left eye showing retinal whitening in the temporal macula at presentation, 5 days after symptom onset. Note the absence of Hollenhorst plaques, vascular sheathing or a cilioretinal artery.

Fig. 2

Spectralis infrared (A, C, E) and OCT (B, D, F) images of the left eye at three different macular locations 2 wks after symptom onset. A) Decreased infrared signal is seen over the area of ischemia (white demarcation). B) Strong hyperreflectivity of the inner nuclear layer is seen in the temporal macula (black asterisk), but not the nasal macula (white asterisk). The inner retina (white arrow) and outer nuclear layer (white # sign) are preserved. C–F) Similar findings are seen over the involved retina in two other locations.

Fig. 3

Spectralis findings of the left eye one month after presentation. A) Decreased but persistent infrared changes in the temporal macula. B) Persistent hyperreflectivity in the temporal macula (black asterisk) at the level previously occupied by the inner nuclear layer, but respecting the ganglion cell layer (white arrow) and the outer nuclear layer (white # sign). The nasal inner nuclear layer is also preserved (white asterisk). C-D) Macular thickness maps show thinning in the temporal macula, corresponding to the area of ischemia.

Fig. 4

Spectralis findings 4 months after presentation. A) Almost complete resolution of the infrared changes. B) OCT shows loss of the inner nuclear layer hyporeflective band (black asterisks) and retinal thinning in the temporal macula. The inner retina (white arrow) and outer nuclear layer (white # sign) are preserved in the temporal macula, as is the inner nuclear layer in the nasal macula (white asterisk).