Discreet chorioretinal spots are a characteristic of the Pattern Dystrophics (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. Clin Ter 2008, 159(6):42 7-430
Inherited macular Pattern Dystrophies: a case report, diagnostic methodology, state of the art / Nebbioso, Marcella; G., Di Benedetto; Grenga, Roberto. - In: LA CLINICA TERAPEUTICA. - ISSN 0009-9074. - STAMPA. - 159:6(2008), pp. 427-430.
Inherited macular Pattern Dystrophies: a case report, diagnostic methodology, state of the art
NEBBIOSO, Marcella;GRENGA, Roberto
2008
Abstract
Discreet chorioretinal spots are a characteristic of the Pattern Dystrophics (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. Clin Ter 2008, 159(6):42 7-430I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
