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RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES, ISSN 0275-004X, 05/2019, Volume 39, Issue 5, pp. 1009 - 1015
Purpose: To study multimodal imaging features of combined hamartoma of the retina and retinal pigment epithelium (CHRRPE). Methods: Six patients (3 males, mean... 
OPHTHALMOLOGY | combined hamartoma | optical coherence tomography | multimodal imaging | optical coherence tomography angiography | vessel density | Medical examination | Angiography | Diagnosis | Retinal diseases | Retinal pigment epithelium | Optical tomography | Methods | Hamartoma
Journal Article
Journal of AAPOS, ISSN 1091-8531, 08/2018, Volume 22, Issue 4, pp. 321 - 323
We report the outcome of 3 years of arginine-restricted diet and vitamin B6 supplementation in a boy who presented with gyrate atrophy of the choroid and... 
OAT | ORNITHINE | OPHTHALMOLOGY | PEDIATRICS | RETINA | MUTATIONS | FEATURES | Medical research | Dropsy | Edema | Arginine | Dietary supplements | Medicine, Experimental | Eye diseases | Vitamins
Journal Article
RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES, ISSN 0275-004X, 06/2019, Volume 39, Issue 6, pp. 1200 - 1205
Purpose: Choroideremia is a rare degenerative retinal disease that causes incurable blindness. It occurs as a result of the deficiency of the X-linked CHM... 
OCT | OCT angiography | choroideremia | OPHTHALMOLOGY | en face | OUTER RETINAL TUBULATION | vessel density
Journal Article
Optometry and Vision Science, ISSN 1040-5488, 10/2016, Volume 93, Issue 10, pp. 1315 - 1318
Purpose To describe a peculiar flecked-retina phenotype in a young female affected by early-onset retinal dystrophy due to a heterozygous mutation in the... 
CRX | cone-rod dystrophy | early-onset retinal dystrophy | genetics | LEBER CONGENITAL AMAUROSIS | FUNDUS-ALBIPUNCTATUS | PHOTORECEPTOR | OPHTHALMOLOGY | MUTATIONS | HOMEOBOX GENE | RPE65 | DEGENERATION
Journal Article
European Journal of Ophthalmology, ISSN 1120-6721, 10/2014, Volume 25, Issue 2, pp. 177 - 179
Purpose: To describe the previously unreported concomitance of 2 uncommon ocular conditions: posterior polymorphous corneal dystrophy (PPCD) and large colloid... 
Large colloid drusen | Young | Optical coherence tomography | Early-onset | Posterior polymorphous corneal dystrophy | Macular dystrophy | OPHTHALMOLOGY | MACULAR DEGENERATION | BRUCHS MEMBRANE
Journal Article
Clinical Chemistry and Laboratory Medicine, ISSN 1434-6621, 06/2012, Volume 50, Issue 6, pp. 1021 - 1029
Journal Article
Molecular Vision, ISSN 1090-0535, 01/2011, Volume 17, pp. 3078 - 3087
Purpose: To report on the phenotype and the genotype of Italian patients carrying BEST1 mutations on both alleles. Methods: Five Italian patients from four... 
Journal Article
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, ISSN 0006-291X, 08/2003, Volume 308, Issue 3, pp. 414 - 421
By means of computational methods, we identified an uncharacterized human transcript, Chromosome I open reading frame 36 (Clorf36), that is expressed in the... 
LOCALIZATION | NUCLEOTIDE-EXCHANGE FACTOR | Clorf36 | POSITIONAL CLONING | alternative splicing | SEQUENCES | BIOCHEMISTRY & MOLECULAR BIOLOGY | EST | chromosome 1q32.3 | retinal gene | RETINAL DYSTROPHY | BIOPHYSICS | DATABASE | PROTEIN FAMILIES | retinitis pigmentosa | MACULAR DYSTROPHY | GENE-EXPRESSION | BATTEN-DISEASE | algorithm
Journal Article
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