TULP1 mutations causing early-onset retinal degeneration: preserved but insensitive macular cones.

ABSTRACT:

Purpose

To investigate visual function and outer and inner retinal structure in the rare form of retinal degeneration (RD) caused by TULP1 (tubby-like protein 1) mutations.

Methods

Retinal degeneration patients with TULP1 mutations (n = 5; age range, 5-36 years) were studied by kinetic and chromatic static perimetry, en face autofluorescence imaging, and spectral-domain optical coherence tomography (OCT) scans. Outer and inner retinal laminar thickness were measured and mapped across the central retina. Comparisons were made with results from patients with RD associated with four ciliopathy genotypes (MAK, RPGR, BBS1, and USH2A).

Results

The TULP1-RD patients were severely affected already in the first decade of life and there was rapidly progressive visual loss. No e

SUBMITTER: Jacobson SG 

PROVIDER: S-EPMC4580213 | biostudies-literature | 2014 Jul

REPOSITORIES: biostudies-literature