Pathology: atrophy of neuroepithelium, pigment epithelium
and part of the
Symptoms and Ophthalmoscopic Feautures
Gradual visual loss in one or both eyes
Onset: between 30 and 40 yo
Pigment stippling and mottling = pigment epithelial dystrophy
RPE atrophy affect the whole macula
Patches of atrophy develop with frequent horseshoe shape around the fovea
Fovea is affected leading to
Copyright restrictions may apply. Keilhauer, C. N. et al. Arch Ophthalmol 2006;124:1020-1027. Clinical Findings
- hyperfluorescence due to
- choriocapillaries and diffuse background hyperfluorescence disappear
- hyperfluorescence at lesion margins from dye leakage from intact choriocapillaries
- more choroidal vessels seen on FA than from ophthalmologic exam
– severely affected (CF)
– normal in the periphery with central or paracentral scotoma
– moderately affected
Dark Adaptation - normal
Electroretinography – normal full-field, abnormal multifocal
Electro-oculography – usually normal
Well-demarkated avascular zone in posterior choroid
Atrophy and fibrosis
No outer layers of retina or RPE corresponding to underlying choroidal atrophy
Usually no breaks in Bruch’s membrane
Likely primary dystrophy of the choroidal vessels
Primary tapetochoroidal dystrophy or primary dystrophy of RPE with secondary choroidal involvement
Pseudoinflammatory dystrophy – Sorsby
Peripapillary and circinate choroidal dystrophy
End stages of Stargardt’s disease
Progressive bifocal chorioretinal atrophy
Multifocal placoid pigment epitheliopathy
Mode of Inheritance
- mutation in the Peripherin/RDS gene on chromosome 6
- plays role in assembly, orientation, and structural stability of outer segment discs and accounts for an increased turnover of instable membranous segments
K. Zhang, D.C. Garabaldi, R.E. Carr and J.S. Sunness , Hereditary choroidal disease. In: S.J. Ryan, Editor, Retina (3rd ed.), Mosby, St. Louis (2001), pp. 462–463.
Hoyng CB, Deutman AF. The development of central areolar choroidal dystrophy. Graefes Arch Clin Exp Ophthalmol. 1996;234:87-93.
Castori M, Valente EM, Maurizio C, Tormene AP, Brancati F, Caputo V, Dallapiccola B. A Novel Locus for Autosomal Dominant Cone and Cone–Rod Dystrophies Maps to the 6p Gene Cluster of Retinal Dystrophies. Invest Ophthalmol Vis Sci. 2005 Oct;46(10):3539-44.
Keilhauer CN, Meigen T, Weber BH. Clinical findings in a multigeneration family with autosomal dominant central areolar choroidal dystrophy associated with an Arg195Leu mutation in the peripherin/RDS gene. Arch Ophthalmol. 2006 Jul;124(7):1020-7.
Nagasaka K, Horiauchi M, Shimada Y, Yuzawa M. Multifocal electroretinograms in cases of central areolar choroidal dystrophy. Invest Ophthalmol Vis Sci. 2003 Apr;44(4):1673-9.