April 2011
Volume 52, Issue 14
ARVO Annual Meeting Abstract  |   April 2011
Association Of Cone Dystrophy With Congenital Alopecia: Occurrence In Two Siblings
Author Affiliations & Notes
  • Mahdi Basha
    Ophthalmology, Ochsner Medical Center, New Orleans, Louisiana
  • Allison Babiuch
    Ophthalmology, LSU-Ochsner, New Orleans, Louisiana
  • Nicholas Tosi
    Ophthalmology, LSU-Ochsner Medical Center, New Orleans, Louisiana
  • Geremie Palombaro
    Ophthalmology, Lake Erie College, Erie, Pennsylvania
  • Footnotes
    Commercial Relationships  Mahdi Basha, None; Allison Babiuch, None; Nicholas Tosi, None; Geremie Palombaro, None
  • Footnotes
    Support  None
Investigative Ophthalmology & Visual Science April 2011, Vol.52, 15. doi:
  • Views
  • Share
  • Tools
    • Alerts
      This feature is available to authenticated users only.
      Sign In or Create an Account ×
    • Get Citation

      Mahdi Basha, Allison Babiuch, Nicholas Tosi, Geremie Palombaro; Association Of Cone Dystrophy With Congenital Alopecia: Occurrence In Two Siblings. Invest. Ophthalmol. Vis. Sci. 2011;52(14):15.

      Download citation file:

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

  • Supplements

Purpose: : To describe the co-incidence of cone dystrophy and alopecia in two siblings and its associated genetics.

Methods: : A 14 year-old patient and her 9 year-old brother were followed from their initial presentation of decreased vision OU secondary to cone dystrophy through a 5 year period. Confirmatory examination was performed and included ERG, color plates, and fundus examination.

Results: : Both siblings developed classic signs of cone dystrophy around the age of 9, as confirmed by ERG, Fundus FA and color plates. Cone dystrophy along with congenital hypotrichosis in both siblings was determined to be an autosomal recessive disorder. As determined by a previously published case report the gene for this disorder has been localized to 16q22.1, the region containing CDH3 which encodes P-cadherin, that is expressed in both retinal pigment epithelium and hair follicle. The cadherins are involved in the regulation of both hair and retinal development.

Conclusions: : The association of cone dystrophy and congenital hypotrichosis, although rare has been determined to be an autosomal recessive inheritance pattern of the defective 16q22.1 gene. This gene defect leads to abnormal P-cadherins and altered cell-cell adhesion.

Keywords: retinal pigment epithelium • gene/expression • innervation: neural regulation 

This PDF is available to Subscribers Only

Sign in or purchase a subscription to access this content. ×

You must be signed into an individual account to use this feature.