Macular degeneration in a patient with aceruloplasminemia, a disease associated with retinal iron overload.
OBJECTIVE
To provide the first ophthalmic case report of a Caucasian patient with the rare autosomal recessive disease aceruloplasminemia, which results in iron overload in the retina, brain, and pancreas.


METHODS
Single observational case report.


METHODS
Perls' staining of a conjunctival biopsy was used to detect elevated iron levels in the conjunctival epithelium. Fundus photography, fluorescein angiography, and electroretinography were used to document retinal appearance and function.


RESULTS
Unlike a report of a Japanese patient with aceruloplasminemia, who had midperipheral retinal pigment epithelium (RPE) cell atrophy and yellowish discoloration of the fundus, our Caucasian patient had a maculopathy. Beginning at age 47, he had development and progression of multiple subretinal yellowish-white lesions and RPE cell atrophy. To confirm tissue iron overload in our patient, we took the novel approach of a conjunctival biopsy, which showed Perls' Prussian blue-positive epithelial cells.


CONCLUSIONS
Given our recent finding of elevated iron levels in the RPE of patients with age-related macular degeneration (AMD), it is interesting that retinal iron overload in aceruloplasminemia is associated with a maculopathy that clinically resembles AMD. This finding supports the hypothesis that retinal iron homeostasis is essential for normal retinal function. Disruption of iron homeostasis could contribute to the pathogenesis of AMD.
Dunaief
Joshua L
JL
F. M. Kirby Center for Molecular Ophthalmology, Philadelphia, Pennsylvania, USA. jdunaief@mail.med.upenn.edu
Richa
Chimene
C
Franks
Edward P
EP
Schultze
Robert L
RL
Aleman
Tomas S
TS
Schenck
John F
JF
Zimmerman
Earl A
EA
Brooks
David G
DG
D018798:Anemia, Iron-Deficiency / Q000175:diagnosis / Q000209:etiology; D002570:Ceruloplasmin / Q000172:deficiency* / Q000235:genetics; D003228:Conjunctiva / Q000378:metabolism; D004596:Electroretinography; D004848:Epithelium / Q000378:metabolism; D005451:Fluorescein Angiography; D006801:Humans; D007501:Iron / Q000378:metabolism; D019190:Iron Overload / Q000175:diagnosis / Q000209:etiology*; D008268:Macular Degeneration / Q000175:diagnosis / Q000209:etiology*; D008297:Male; D008875:Middle Aged; D012164:Retinal Diseases / Q000175:diagnosis / Q000209:etiology*
D007501:Iron; D002570:Ceruloplasmin