Disease relevance of CACD

• Central areolar choroidal dystrophy (CACD) is a rare inherited retinal disease which causes progressive profound loss of vision in patients during their 4th decade [1].
• RESULTS: Of 236 cases screened, LM detected 34 (14.4%; 95% CI: 9.6-20.2) cases and, in the 202 cases negative by LM, CACD detected an additional 30 (14.9%; 95% CI: 9.6-21.2%) cases with occult metastases [2].
• Two cases of CACD in association with perceptive hearing loss are discussed [3].
• Central areolar choroidal dystrophy (CACD) is a rare hereditary disorder leading to a central scotoma in middle-aged patients [3].
• This new localisation for autosomal dominant cone-rod dystrophy (CORD6) overlaps with regions attributed previously to Leber's congenital amaurosis, central areolar choroidal dystrophy and dominant cone dystrophy [4].

High impact information on CACD

• We have performed a total genome search and established linkage of CACD in this family to chromosome 17p (multipoint Zmax = 5.65 at D17S938) [1].
• We subjected CACD to a binding site selection procedure and obtained high-affinity CACD binding sites that are identical to that of the beta-globin CACCC element [5].
• CONCLUSIONS: The authors' results suggest that TIMP3 is not a major factor in the cause of AMD, AVMD, and CACD [6].
• The authors analyzed a total of 217 patients, including 143 patients with AMD, 28 patients with AVMD, 21 patients with CACD, and 25 patients with other forms of macular dystrophy [6].
• An autosomal dominant retinitis pigmentosa, Leber's congenital amaurosis, autosomal dominant cone degeneration, central areolar choroidal dystrophy and Sjogren-Larsson syndrome were all recently mapped to chromosome 17p [7].

Biological context of CACD

• RESULTS: The severity of the CACD/dominant drusen maculopathy was age related and the expression of the phenotype varied [8].
• METHODS: DNA sequence analysis of the peripherin/RDS gene was performed in four sporadic cases and in ten affected and nine unaffected individuals from seven families with autosomal dominant central areolar choroidal dystrophy [9].
• Until now the early lesions of central areolar choroidal dystrophy in patients with a good visual acuity in both eyes have not been described clearly [10].
• Electrophysiology findings in a large family with central areolar choroidal dystrophy [11].
• One of 7 affected males had central areolar choroidal dystrophy confirmed by central scotomas in visual fields and an electroretinographic pattern consisting of an attenuated amplitude as well as a prolonged implicit time of the cone b-wave on stimulation with 30 Hz flickering white light [12].

Anatomical context of CACD

• CACD was divided into four stages: I, slight parafoveal changes of the pigment epithelium (RPE); II, RPE mottling encircling the fovea; III, additional atrophy of the choriocapillaris without central involvement; IV, as stage III with central involvement [13].
• CACD produces a widespread photoreceptor dysfunction in its later stages [11].
• Three cases of one manifestation, geographic atrophy of the retinal pigment epithelium, are described with emphasis on differential diagnosis from a clinically similar disease, central areolar choroidal dystrophy [14].

Other interactions of CACD

• Autosomal dominant central areolar choroidal dystrophy and a novel Arg195Leu mutation in the peripherin/RDS gene [15].
• MATERIALS: Four human donor eyes with the following forms of central retinal dystrophy: cone-rod dystrophy (CRD), central areolar choroidal dystrophy, Bardet-Biedl syndrome, and cone dystrophy-cerebellar ataxia [16].
• Central areolar choroidal dystrophy and slowly progressive sensorineural hearing loss [3].

Analytical, diagnostic and therapeutic context of CACD

• We examined 69 members of two caucasian families with an autosomal dominant form of central areolar choroidal dystrophy using ophthalmoscopy and fundus photography [10].

References