corneal dystrophy, gelatinous drop-like

An autosomal recessive disorder (OMIM:204870) characterised by severe corneal amyloidosis leading to blindness.
Clinical findings
In the first decade of life: blurred vision, photophobia and foreign-body sensation; by third decade, raised, yellowish-grey, gelatinous masses severely impair visual acuity, and lamellar keratoplasty is required.
Molecular pathology
Caused by defects of TACSTD2, which encodes a cell surface receptor.

单词	corneal dystrophy, gelatinous drop-like
释义	corneal dystrophy, gelatinous drop-like corneal dystrophy, gelatinous drop-like An autosomal recessive disorder (OMIM:204870) characterised by severe corneal amyloidosis leading to blindness. Clinical findings In the first decade of life: blurred vision, photophobia and foreign-body sensation; by third decade, raised, yellowish-grey, gelatinous masses severely impair visual acuity, and lamellar keratoplasty is required. Molecular pathology Caused by defects of TACSTD2, which encodes a cell surface receptor. AcronymsSeeCDGDL
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