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Comprehensive review of inherited retinal diseases
The authors offer an up-to-date review of inherited retinal diseases (IRDs). In each section the authors discuss the molecular basis of disease, genotype and clinical manifestation. They also discuss the investigation findings and current evidence in the treatment of the...
Infantile nystagmus syndrome and use of genetic testing
This review aimed to assess the clinical utility of genetic testing for individuals with infantile nystagmus syndrome. The authors define infantile nystagmus syndrome as having an onset before six months of age, binocular and conjugate. The literature search was conducted...
The effect of orbital decompression on upper eyelid retraction
This is a systematic review and meta-analysis on whether there is a change in upper lid retraction following orbital decompression. Traditional teaching states that the order of surgery for thyroid eye disease should be decompression firstly, followed by squint surgery...
Bardet Biedl refractive error
This is a retrospective cross-sectional study of 45 patients with genetically diagnosed Bardet Biedl syndrome. Patients with biallelic defects in any gene known to cause Bardet Biedl syndrome were eligible for inclusion. Patients underwent cycloplegic refraction and keratometry. The mean...
