First Author: J.Romero-Trevejo SPAIN
Co Author(s): A. Gonzalez-Gomez M. Morillo
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Macular dystrophies are clinically characterized by a bilateral visual acuity decrease and generally symmetric alterations in the macula observed by funduscopy. The decrease in the visual acuity can be detected from birth or at any later time, but it commonly appears in the first two decades of life. We present a report of central areolar choroidal dystrophy (CACD), an uncommon case of macular dystrophy.
An otherwise healthy 70-years-old man was referred for evaluation of a progressive binocular decrease of his visual acuity of several months duration.
Examination revealed a best corrected visual acuity of 0,4 with both eyes, and an intraocular pressure of 19/20 mmHg. Evolving bilateral nuclear cataracts were observed by slit-lamp examination in the anterior chamber, where no other significant alterations were detected. Funduscopic examination showed normal optic nerve papillae, and the existence of a well-delimited area of circular retinal pigmentary epithelium (RPE) atrophy in the foveal and perifoveal regions of both eyes. These areas were somewhat smaller in size than the optic disc diameter. Peripapillary and vascular arcades drusenoid deposits were also observed. OCT examination confirmed these findings by the appearance of choroidal atrophy, choriocapillaris alteration, and bilateral subfoveal areas of atrophy and RPE and retinal external layers disappearance. A fluorescein angiography was then performed, and hypoautofluorescence images of the atrophic areas together with hyperfluorescence at early and late times, corresponding with residual subjacent choroidal vessels, were detected.
Taking together, the results of the different examinations could establish the suspected diagnosis of CACD.
CACD was firstly described by Nettleship in 1884, being a macular dystrophy that affects to RPE and choriocapillaris. It commonly presents a dominant autosomal inheritance pattern, although some recessive cases have been published. Six different mutations in the periferin/RDS gene have been described as causes of the disease, and its expressivity is variable. Diagnosis of CACD can be difficult at the first stages, but can be suspected by the clinical findings, showing round or oval perifoveal RPE atrophy areas which progressively invade the fovea as the disease progresses. Due to the fact that sometimes some drusenoid deposits can be observed, a differential diagnosis with age-related macular disease must be done, especially at the first stages of the disease. Nowadays, there is no curative treatment for CACD, and it has a bad prognosis due to the loss of central vision around the sixth or seventh decade of life. However, peripheral vision can remain unaffected.