Atypical retinitis pigmentosa with hypophosphatasia.
Hypophosphatasia is a rare inborn error of metabolism. Ocular signs of hypophosphatasia previously described are blue sclera, band keratopathy, conjunctival calcification, cataract, optic atrophy and the complications of craniostenosis. This paper reports the association of a pigmentary dystrophy similar to rod/cone dystrophy with hypophosphatasia.
D000328:Adult; D005451:Fluorescein Angiography; D005654:Fundus Oculi; D006801:Humans; D007014:Hypophosphatasia / Q000150:complications*; D008297:Male; D012174:Retinitis Pigmentosa / Q000175:diagnosis / Q000209:etiology*