Schnyder crystalline dystrophy

Hereditary crystalline stromal dystrophy of Schnyder. II. Histopathology and ultrastructure.

Visual morbidity in thirty-four families with Schnyder crystalline corneal dystrophy (an American Ophthalmological Society thesis).

PURPOSE To assess the findings, visual morbidity, and surgical intervention in Schnyder crystalline corneal dystrophy (SCCD). METHODS Retrospective case series of 115 affected individuals from 34 SCCD families identified since 1989. Age, uncorrected visual acuity, best-corrected visual acuity (BCVA), corneal findings, and ocular surgery were recorded. Prospective phone, e-mail, or written con...

Analysis of fifteen positional candidate genes for Schnyder crystalline corneal dystrophy.

PURPOSE To identify the genetic basis of Schnyder crystalline corneal dystrophy (SCCD) through screening of positional candidate genes in affected patients. METHODS Mutation screening of fifteen genes (CORT, CLSTN1, CTNNBIP1, DFFA, ENO1, GPR157, H6PD, KIF1B, LOC440559, LZIC, MGC4399, PEX14, PGD, PIK3CD, and SSB1) that lie within the candidate gene region for SCCD was performed in members of t...

Hereditary crystalline stromal dystrophy of Schnyder. I. Clinical features of a family with hyperlipoproteinaemia.

An interest in the possibility of a systemic lipid disturbance in Schnyder's corneal dystrophy stems from the work of Bonnet, Paufique, and Bonamour (I934), who first suggested that the needle-shaped corneal deposits in this condition consisted of cholesterol. The present study is of great interest since it describes a family in which Schnyder's central crystalline stromal dystrophy coexisted w...

A novel UBIAD1 mutation identified in a Chinese family with Schnyder crystalline corneal dystrophy

PURPOSE To identify the molecular defect causing Schnyder crystalline corneal dystrophy (SCCD) in a Chinese family with bilateral corneal abnormalities. METHODS The Chinese SCCD family was subjected to a complete ophthalmic examination that included slit-lamp examination and slit-lamp photography to assess and document the crystalline deposits and arcus lipoides. In vivo laser scanning confoc...