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Sclerochoroidal calcification is the deposition of calcium at the level of the sclera and choroid. Two entities have been described: metastatic calcifications resulting from deposition of calcium in normal tissues caused by phosphocalcic metabolism abnormality such as primary and secondary hyperparathyroidism,1 pseudohypoparathyroidism, hypervitaminose D, vitamin D intoxication, hypophosphataemia, sarcoidosis, Bartter syndrome, and Gitelman syndrome2,3; and dystrophic calcifications caused by secondary deposition of calcium in abnormal tissues despite normal serum levels of calcium and phosphate.
Sclerochoroidal calcifications can also be idiopathic.4 We describe the first case of hereditary form of sclerochoroidal calcifications associated with familial articular chondrocalcinosis.
A 69 year old man was admitted to the department of ophthalmology in November 1999 with gradual deterioration of vision in both eyes. He had a medical history of articular chondrocalcinosis. His father, brother, and son were treated for the same disease.
On examination, best corrected visual acuity was 20/120 in the right eye and finger counting in the left eye. Slit lamp examination and ocular tension were normal. The funduscopy revealed multiple bilateral pseudotumoral white choroidal masses in both eyes (fig 1). Ultrasound examination of the eyes confirmed the calcific nature of the lesions.
On fluorescein angiography in March 1979 the pseudotumoral lesions were smaller and did not involve the macular area in left eye (fig 1, left).
He had an extensive metabolic evaluation in the Broussais department of physiology that was normal. The systemic diagnosis was familial articular chondrocalcinosis.
We decided to examine the whole family to search for ophthalmic abnormalities linked with familial chondrocalcinosis.
The 74 year old brother and the 40 year old son also suffered from chronic articular chondrocalcinosis. Their best visual acuity was 20/20 in both eyes.
The brother’s funduscopy revealed multiple bilateral, extrafoveal pseudotumoral white choroidal masses (fig 2, top). The son’s funduscopy revealed plaque-like and only slightly elevated lesions seen in the mid-periphery (fig 2, bottom). Ultrasonograms confirmed the calcific nature of these lesions.
In 1997, Shields et al5 described a case of sclerochoroidal calcifications in a normocalcaemic patient who had chondrocalcinosis.
We first describe a familial case of sclerochoroidal calcifications associated with calcium pyrophosphate dihydrate (CPPD). In this family, autosomal dominant inheritance is highly likely because there are affected individuals in each generation, there is male to male transmission, and every affected member has an affected parent.
Inheritance in sclerochoroidal calcifications has never been described; however, hereditary forms of chondrocalcinosis have already been described.
In our report, a patient had a 24 year follow up showing a progressive involvement of the macular area, suggesting a growth of the calcifications. Two types of calcifications have been described previously, the plaque-like and the pseudotumoral type.
To our knowledge, it has never been determined if the plaque-like lesions evolve into tumour-like lesions. In 1992, Schachat and associates6 reported 10 cases with follow up ranging from 7 months to 10 years, for whom no change in the lesion was seen. This is the first observation with 24 years of follow up suggesting a possible evolution of plaque-like lesions to pseudotumoral lesions.
We suggest that every patient affected by familial chondrocalcinosis should have an ophthalmic examination to detect sclerochoroidal calcification. These lesions seem to be evolving in time with possible involvement of the macula. Choroidal neovascularisation is also a vision threatening complication of sclerochoroidal calcifications.7 Our case suggest the need to perform ophthalmological examination in patients and family members of patients affected by chondrocalcinosis.