Leber congenital amaurosis type 15

A severe retina dystrophy (OMIM:613843) which appears in early life and is characterised by poor vision, nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus.
Molecular pathology
Caused by defects in TULP1, which encodes a so-called tubby-like protein that is required for normal development of photoreceptor synapses, photoreceptor function and for long-term survival of photoreceptor cells.

单词	leber congenital amaurosis type 15
释义	Leber congenital amaurosis type 15 Leber congenital amaurosis type 15 A severe retina dystrophy (OMIM:613843) which appears in early life and is characterised by poor vision, nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. Molecular pathology Caused by defects in TULP1, which encodes a so-called tubby-like protein that is required for normal development of photoreceptor synapses, photoreceptor function and for long-term survival of photoreceptor cells.
随便看	squashed those into squashed those up squashed those up against squashed up squashed up against squashed us in squashed us in like sardines squashed us into squashed us like sardines squashed us up against squashed you in squashed you in like sardines squashed you into squashed you like sardines squashed you up against squasher squashes squashes down squashes her in squashes her into squashes her up against squashes him in squashes him into self-motivation self-moved