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Biofeedback Rehabilitation of Eccentric Fixation in Patients with Stargardt Disease
TLDR
Biofeedback rehabilitation with the MP-1 increases quality of vision in patients with STGD, leading to a stabilization of fixation and a consequent improvement of patients’ visual function and reading abilities.
Optical coherence tomography (OCT) for detection of macular oedema in patients with diabetic retinopathy.
TLDR
Optical coherence tomography (OCT) is based on optical reflectivity and is able to image retinal thickness and structure producing cross-sectional and three-dimensional images of the central retina, which is already widely used and provides objective and quantitative assessment of macular oedema unlike the subjectivity of fundus biomicroscopic assessment.
Reading Ability and Quality of Life in Stargardt Disease
TLDR
It is proposed that reading ability should be assessed in patients with STGD, since it is found that both MNREAD reading speed and visual acuity are strong determinants of quality of life.
Retinal dystrophy and subretinal drusenoid deposits in female choroideremia carriers
TLDR
Retinal dystrophy and SDD were detected in female CHM carriers, and fundus patterns have been described in this study, which may permit a correct diagnosis, an appropriate molecular investigation and genetic counseling.
EDI-OCT evaluation of choroidal thickness in retinitis pigmentosa
TLDR
In this series, CT was significantly lower in the RP group in comparison with the controls, as measured by EDI-OCT, but did not correlate with age, age at onset, duration of the disease, macular thickness, visual acuity, visual field loss, or ERG responses.
BEST1 sequence variants in Italian patients with vitelliform macular dystrophy
TLDR
The high prevalence of novel variants and the frequent report of a specific variant (p.Arg25Trp) that has rarely been described in other ethnic groups suggests a distribution of BEST1 variants peculiar to Italian VMD patients.
MYO7A and USH2A gene sequence variants in Italian patients with Usher syndrome
TLDR
A selective analysis of these genes may be valuable for molecular analysis, combining diagnostic efficiency with little time wastage and less resource consumption.
En face OCT in Stargardt disease
TLDR
Enface OCT proved to be a clinically useful tool for the management of STGD patients, illustrating in vivo the structural abnormalities of the different retinal layers.
Ocular phenotypes associated with biallelic mutations in BEST1 in Italian patients
TLDR
Biallelic BEST1 sequence variants can be associated with at least two different phenotypes: BVMD and ARB, which probably depends on the characteristics and the combination of the different BEST1 mutations, but unknown modifying factors such as other genes or the environment may also play a role.
Long-term follow-up of a CRB1-associated maculopathy
TLDR
The clinical case allowed us to observe three different stages in the natural history of this particular CRB1-associated macular phenotype: a foveoschisis phenotype, cystoid macular abnormalities involving outer and inner retinal layers and macular atrophy.
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