Distrofia corneal de Schnyder / Schnyder crystalline dystrophy

La principal entidad hereditaria con depósitos de lípidos en el estroma corneal es la distrofia cristalina central, conocida como distrofia de Schnyder, quien la describió en Suiza en 1927. Se caracteriza por depósitos blanco-amarillentos en el estroma corneal central y superficial. Se presenta un paciente de 28 años, del sexo masculino y piel negra, con antecedente de salud anterior. Acudió a consulta y refirió una disminución de la visión y cambio de coloración progresiva de ambos ojos, de años de evolución. En la exploración oftalmológica de ambos ojos se apreciaron lesiones blanquecinas anulares a nivel del estroma corneal, con ligera turbidez corneal central. Los estudios refractivos realizados constataron un astigmatismo hipermetrópico simple. El resto del examen oftalmológico fue negativo. Para el diagnóstico de certeza se empleó el microscopio confocal. Se concluye que el caso presenta una distrofia corneal estromal de tipo cristalina, de Schnyder.

Central crystalline dystrophy known as Schnyder´s dystrophy, called like this because he was the first one to describe it in 1927 in Switzerland, is the main inherited entity with liquid deposits in the corneal stroma. This disease is characterized by white-yellow deposits into the central and superficial corneal stroma. A 28 years old black male patient, with previous history of health problems, went to the doctor´s office and mentioned visual reduction and progressive coloring changes in both eyes that had lasted some years. Ophthalmologic examination of both eyes showed annular white lesions at the corneal stroma, with light central corneal haze. Simple hypermetropic astigmatism was detected in the refractive exams. The rest of ophthalmologic exams was negative. For more secure diagnosis, confocal microscope was used. It was concluded that the patient had stromal corneal dystrophy, or Schnyder´s crystalline dystrophy.

N102S Mutation of UBIAD1 Gene in a Family with Schnyder Crystalline Corneal Dystrophy

PURPOSE: Schnyder crystalline corneal dystrophy (SCCD) is an autosomal dominant disease characterized by progressive central corneal opacification and premature development of peripheral arcus in the cornea. This disease results from a point mutation of UBIAD1 in chromosome 1p34-36. Until now, 15 different mutations of UBIAD1 gene on chromosome 1p34-36 have been reported for Schnyder crystalline corneal dystrophy. More point mutations are expected to be added to the list in the future. Schnyder crystalline corneal dystrophy is a rare disease, with only three reported cases in Korea, although there has been no report of a genetically confirmed case of the disease. CASE SUMMARY: We encountered six patients with an N102S mutation of UBIAD1, who are from a family of two generation with 12 family members. Genetic confirmation for Schnyder crystalline corneal dystrophy was performed on these patients. This was the first report of a genetic confirmation of Schnyder crystalline corneal dystrophy in Korea. We will discuss our cases along with a review of the related literature.