35. Central Areolar Choroidal Dystrophy

Medical History

A 54-year-old female patient with progressive vision loss in both eyes was examined in our clinic.

Diabetes mellitus  (-)

Systemic hypertension (-)

Family history (-)

Smoking  (-)

Trauma (-)

Examination Findings

Best corrected visual acuity was 2/10 in both eyes. Intraocular pressure was 18 mmHg in both eyes. Anterior segment examination was unremarkable. Fundus examination revealed a large, round and sharply demarcated area of macular atrophy in both eyes.

Multicolor imaging shows ovoid and sharply demarcated area of macular atrophy in both eyes (Figure 1).

Infrared reflectance imaging shows a large round, ovoid and sharply demarcated hyperreflective macular lesion in both eyes (Figure 2).

Fundus autofluorescence imaging shows a large round, ovoid and sharply demarcated hypoautofluorescent area involving the fovea in both eyes (Figure 3).

SD-OCT imaging shows  outer retinal atrophy, severe  retinal pigment epithelial and ellipsoid zone loss, and choriocapillaris atrophy in both eyes (Figure 4).


Central Areolar Choroidal Dystrophy 

Central areolar choroidal dystrophy (CACD) was first described by Nettleship in 1884. It is a progressive chorioretinal dystrophy with autosomal dominant inheritance. The mutated gene is located on the short arm of chromosome 17. The RDS/peripherin gene is involved in the metabolism of arginine. The onset of the disease occurs at the end of the second decade to the beginning of the fourth decade in the form of deterioration in central vision. Physical exam findings in early CADC include a non-specific macular depigmentation. Well circumscribed, round, ovoid geographic atrophy develops over time. The boundaries of the lesions may expand and become irregular over time. Areas of chorioretinal atrophy do not expand to the peripapillary area or outside the vascular arcades. In the late seventh decade, severe visual impairment develops due to the formation of absolute central scotoma. Visual acuity generally remains at the level of 1/10.

Differential Diagnosis

Cone dystrophy, Stargardt disease, hydroxychloroquine maculopathy


There is no treatment for central areolar choroidal dystrophy.


Boon CJ, Klevering BJ, Cremers FP, ve ark. Central areolar choroidal dystrophy. Ophthalmology. 2009;116(4):771-82.



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