June 2017
Volume 58, Issue 8
Open Access
ARVO Annual Meeting Abstract  |   June 2017
Clinical features and a novel CHM mutation in a Portuguese family with X-linked choroideremia
Author Affiliations & Notes
  • Liliana P Paris
    Instituto de Oftalmologia Dr. Gama Pinto, Lisbon, Portugal
  • Márcia Rodrigues
    Medical Genetics, Hospital Dona Estefania, Lisbon, Portugal
  • Luísa Coutinho-Santos
    Instituto de Oftalmologia Dr. Gama Pinto, Lisbon, Portugal
  • Footnotes
    Commercial Relationships   Liliana Paris, None; Márcia Rodrigues, None; Luísa Coutinho-Santos, None
  • Footnotes
    Support  None
Investigative Ophthalmology & Visual Science June 2017, Vol.58, 1489. doi:
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      Liliana P Paris, Márcia Rodrigues, Luísa Coutinho-Santos; Clinical features and a novel CHM mutation in a Portuguese family with X-linked choroideremia. Invest. Ophthalmol. Vis. Sci. 2017;58(8):1489.

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      © ARVO (1962-2015); The Authors (2016-present)

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Purpose : To investigate the genetic mutation causing X-linked choroideremia in a Portuguese family, and to describe its associated clinical features in affected males and female carriers

Methods : The index case and 16 family members underwent full ophthalmic evaluation including BCVA testing, slit lamp and fundus examination. Fundus photography, ERG, color vision and Goldmann perimetry were performed in patients who agreed to be further studied.
Peripheral blood samples were collected from one affected male and one obligate carrier, and genomic DNA was extracted from leukocytes. Exons 1 through 15 of the CHM gene were amplified by polymerase chain reaction (PCR) and directly sequenced.

Results : Five affected males and six female carriers were identified in this family.
Initial symptoms/signs in affected males were nyctalopia (40%), photophobia (20%), reduced visual acuity (VA) (20%) and strabismus (20%). With disease progression overtime, these symptoms became more prevalent with nyctalopia affecting 80% of the patients, photophobia - 40%, and reduced VA - 40%. Moreover, visual field defects developed in 20%.
Although only 50% of female carriers reported ophthalmic symptoms at baseline (reduced VA, photopsias, nyctalopia), all of them developed peripheral pigmentary retinal changes, during follow-up.
A novel mutation in the CHM gene, involving intron-exon 9, was identified in a 6-year old affected male. Over a 10-year follow-up, the patient developed the following signs and symptoms: strabismus, nyctalopia, discrete lens opacities (nuclear), and progressive chorioretinal atrophy associated with pigmentary changes spreading centripetally. His mother was a heterozygous carrier who had mottled pigmentary changes in the retinal periphery.

Conclusions : A novel mutation was identified in the CHM gene, in a 6-year-old male belonging to a Portuguese family with choroideremia, with five affected males and six female carriers.
All female carriers developed fundus abnormalities during follow-up and some of them also reported ophthalmic complaints.

This is an abstract that was submitted for the 2017 ARVO Annual Meeting, held in Baltimore, MD, May 7-11, 2017.


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