title: [Inherited macular pattern dystrophies: a case report, diagnostic methodology, state of the art].
abstract: Discreet chorioretinal spots are a characteristic of the Pattern Dystrophies (PD) that include a small group of disorders with pigmentary changes in the posterior fundus, including the macular region. These disorders are transmitted as either Autosomal Recessive or Dominant trait and can be observed in association with maternal diabetes mellitus and deafness. This report was performed with three aims: 1. to present a clinical case of PD in a young girl and her family; 2. to elucidate the complex panel of diagnostic Hi-Tech techniques; 3. to describe the State of the Art in this field of retinal alterations. The complex diagnostic procedure, when examined at the light of the consolidated bibliography, confirms the importance of the new Hi-Tech instrumentation as an indispensable tool for an early diagnosis of PD.
authors.affiliation: Dipartimento di Oftalmologia, Università Sapienza, Roma, Italia. marcella.nebbioso@uniroma1.it
authors.forename: M
authors.initials: M
authors.lastname: Nebbioso
authors.forename: G
authors.initials: G
authors.lastname: Di Benedetto
authors.forename: G
authors.initials: G
authors.lastname: Grenga
mesh_terms: D000293:Adolescent; D000075002:Bestrophins; D018118:Chloride Channels / Q000235:genetics; D004272:DNA, Mitochondrial / Q000235:genetics; D004596:Electroretinography; D005136:Eye Proteins / Q000235:genetics; D005260:Female; D005451:Fluorescein Angiography; D005456:Fluorescent Dyes; D005654:Fundus Oculi; D005799:Genes, Dominant; D005808:Genes, Recessive; D018740:Genetic Heterogeneity; D006801:Humans; D007208:Indocyanine Green; D008266:Macula Lutea / Q000473:pathology; D008268:Macular Degeneration / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D028361:Mitochondrial Diseases / Q000235:genetics; D055213:Retinal Pigment Epithelium / Q000002:abnormalities*; D012174:Retinitis Pigmentosa / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D041623:Tomography, Optical Coherence; D014794:Visual Fields
chemical_list: C113133:BEST1 protein, human; D000075002:Bestrophins; D018118:Chloride Channels; D004272:DNA, Mitochondrial; D005136:Eye Proteins; D005456:Fluorescent Dyes; D007208:Indocyanine Green