PMID: 9450854Feb 5, 1998Paper

Schnyder corneal crystalline dystrophy: description of a new family with evidence of abnormal lipid storage in skin fibroblasts

American Journal of Medical Genetics
C BattistiA Federico

Abstract

Schnyder corneal crystalline dystrophy (SCCD) comprises corneal opacities often associated with precocious arcus senilis and genua valga. The metabolic defect seems to be related to abnormal lipid storage in the central part of the cornea, especially the anterior stroma, consisting mainly of nonesterified cholesterol. Plasma lipid levels are not always increased suggesting that the disease may be due to abnormal lipid metabolism limited to the cornea. We observed a family with typical SCCD, in 1 case associated with mental retardation and mild cerebellar hypoplasia. Results of serum lipid analysis of all patients were normal. Ultrastructural study of a skin biopsy specimen and fibroblast pellet showed membrane-bound spherical vacuoles containing lipid material. Cultured fibroblasts stained by filipin, a fluorescent probe that specifically binds unesterified cholesterol, showed abnormal cytoplasmic fluorescent material, suggesting abnormal cholesterol metabolism. The presence of neurological impairment, associated with SCCD in 1 of our cases, may be regarded as coincidental. Evidence of storage lipids in skin and cultured fibroblasts suggests that the disorder of intracellular cholesterol metabolism is not limited to the cornea ...Continue Reading

References

Jul 1, 1991·Survey of Ophthalmology·B J BarchiesiP P Ellis
Nov 15, 1990·American Journal of Ophthalmology·M M RodriguesJ Blanchette-Mackie
Aug 15, 1987·American Journal of Ophthalmology·M M RodriguesR Willis
Mar 1, 1986·Ophthalmic Paediatrics and Genetics·W LischG Utermann
Jan 1, 1968·Ophthalmologica. Journal international d'ophtalmologie. International journal of ophthalmology. Zeitschrift für Augenheilkunde·J W Delleman, J E Winkelman
Dec 1, 1993·Ophthalmology·H J IngrahamD D Donaldson
Jun 1, 1950·The British Journal of Ophthalmology·R SYSI

❮ Previous
Next ❯

Citations

Feb 25, 2009·Orphanet Journal of Rare Diseases·Gordon K Klintworth
Dec 14, 2011·Ophthalmic Surgery, Lasers & Imaging : the Official Journal of the International Society for Imaging in the Eye·Volkan HurmericJianhua Wang
Jun 4, 2005·Clinical & Experimental Ophthalmology·Andrea L VincentCharles N J McGhee
Jan 8, 2008·American Journal of Medical Genetics. Part a·Jayne S WeissMichael L Nickerson
Aug 10, 2021·Molecular Medicine Reports·Jumin Xie, Lingxing Li

❮ Previous
Next ❯

Related Concepts

Related Feeds

Aphasia

Aphasia affects the ability to process language, including formulation and comprehension of language and speech, as well as the ability to read or write. Here is the latest research on aphasia.