Retinal dystrophy and subretinal drusenoid deposits in female choroideremia carriers

Vittoria Murro, Dario Pasquale Mucciolo, Ilaria Passerini, Simona Palchetti, Andrea Sodi, Gianni Virgili, Stanislao Rizzo

Risultato della ricerca: Contributo in rivistaArticolo in rivista

Abstract

Purpose: To describe clinical and molecular characteristics in a group of Italian female choroideremia (CHM) carriers and report fundus patterns. Methods: We retrospectively studied 11 female carriers belonging to six CHM families examined at the Regional Reference Center for Hereditary Retinal Degenerations at the Eye Clinic in Florence. We took into consideration patients with a comprehensive ophthalmological examination, fundus photography, optical coherence tomography (OCT), full field electro-retinography (ERG), and visual field (VF). All patients were screened for mutations of the CHM gene. Results: Fundus examination revealed retinal abnormalities in all female carriers (11/11) in the study; in particular four fundus patterns were identified: pattern A (RPE dystrophy involving only the peripheral retina), pattern B (RPE dystrophy involving the peripheral retina and the posterior pole with small hypo-pigmented RPE areas), pattern C (RPE dystrophy involving the peripheral retina and the posterior pole with small yellowish well-defined dots), and pattern D (RPE dystrophy involving the peripheral retina and the posterior pole with large hypo-pigmented RPE areas and well-defined yellowish dots). Pattern D was characterized by widespread macular subretinal drusenoid deposits (SDD). Half of the observed mutations were novel mutations. A genotype-phenotype correlation was not identified. Conclusions: Retinal dystrophy and SDD were detected in our female CHM carriers, and fundus patterns have been described in this study. The recognition of specific fundoscopic patterns may permit a correct diagnosis, an appropriate molecular investigation and genetic counseling.
Lingua originaleEnglish
pagine (da-a)2099-2111
Numero di pagine13
RivistaGraefe's Archive for Clinical and Experimental Ophthalmology
Volume255
DOI
Stato di pubblicazionePubblicato - 2017

Keywords

  • CHM
  • Carrier
  • Choroideremia
  • Subretinal drusenoid deposits

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