title: Spectral-domain optical coherence tomographic characteristics of autosomal recessive isolated foveal hypoplasia.
authors.affiliation: Department of Ophthalmology, Maimonides Medical Center, Brooklyn, NY, USA. eyesitemd@gmail.com
authors.forename: Norman
authors.initials: N
authors.lastname: Saffra
authors.forename: Swati
authors.initials: S
authors.lastname: Agarwal
authors.forename: John Pei-Wen
authors.initials: JP
authors.lastname: Chiang
authors.forename: Robert
authors.initials: R
authors.lastname: Masini
authors.forename: Alessandra
authors.initials: A
authors.lastname: Bertolucci
mesh_terms: D000328:Adult; D004252:DNA Mutational Analysis; D004596:Electroretinography; D015785:Eye Diseases, Hereditary / Q000175:diagnosis* / Q000235:genetics; D005136:Eye Proteins / Q000235:genetics; D005260:Female; D005584:Fovea Centralis / Q000002:abnormalities / Q000473:pathology*; D005808:Genes, Recessive; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D008297:Male; D009154:Mutation; D020417:Nystagmus, Congenital / Q000175:diagnosis* / Q000235:genetics; D000071841:PAX6 Transcription Factor; D051761:Paired Box Transcription Factors / Q000235:genetics; D010375:Pedigree; D012097:Repressor Proteins / Q000235:genetics; D041623:Tomography, Optical Coherence; D014792:Visual Acuity / Q000502:physiology
chemical_list: D005136:Eye Proteins; D018398:Homeodomain Proteins; D000071841:PAX6 Transcription Factor; C000605730:PAX6 protein, human; D051761:Paired Box Transcription Factors; D012097:Repressor Proteins