September 2016
Volume 57, Issue 12
Open Access
ARVO Annual Meeting Abstract  |   September 2016
Ophthalmic Manifestations of X-Linked Reticulate Pigmentary Disorder
Author Affiliations & Notes
  • Ahmed F. Omar
    Ophthalmology, UT Southwestern Medical Center, Dallas, Texas, United States
    Ophthalmology, Faculty of Medicine - Assiut University, Assiut, Egypt
  • Vinod V Mootha
    Ophthalmology, UT Southwestern Medical Center, Dallas, Texas, United States
  • Stefano Pensiero
    IRCCS Burlo Garofolo, Children's Hospital of Trieste, Trieste, Italy
  • Footnotes
    Commercial Relationships   Ahmed Omar, None; Vinod Mootha, None; Stefano Pensiero, None
  • Footnotes
    Support  None
Investigative Ophthalmology & Visual Science September 2016, Vol.57, 4385. doi:
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    • Get Citation

      Ahmed F. Omar, Vinod V Mootha, Stefano Pensiero; Ophthalmic Manifestations of X-Linked Reticulate Pigmentary Disorder. Invest. Ophthalmol. Vis. Sci. 2016;57(12):4385.

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

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Abstract

Purpose : X-linked Reticulate Pigmentary Disorder (XLRPD) is a rare genetic disorder described in only a few families to date. Affected males have diffuse reticulate pigmentation of skin, corneal dyskeratosis as well as other systemic manifestations. We report the ocular manifestations of 6 cases of XLRPD.

Methods : Chart review of 6 male subjects from 4 families with XLRPD.

Results : The age range was 7-35 years. All subjects presented shortly after birth with repeated lung and urogenital infections and show classic skin and hair findings. Three subjects have immediate female family members with cutaneous manifestations. The average age at presentation of the ocular findings was 2 years. The visual acuity ranged from 20/20 to hand motion. All subjects had severe photophobia at presentation. Corneal examination in all subjects showed bilateral raised, nodular anterior stromal lesions, pannus, and anterior stromal vessels. Tear production testing with local anesthesia showed an average (n=4) of 33mm wetting of the Schirmer strip paper. Fluorescein staining showed whorl epithelopathy with an 0.5 mm epithelial defect in one eye of one subject, bilateral punctate staining compatible with dryness in another subject, and negative staining over the corneal nodules in two other subjects. The remainder of anterior segment examination was unremarkable in all subjects. Fundus examination of three subjects under general anesthesia revealed bilateral diffuse retinal pigmentation and pale optic nerve in one subject and was unremarkable in the other 2 subjects. Electrophysiological studies of the subject with retinal and optic nerve changes revealed bilateral delayed visual evoked response and unilateral mild reduction of scotopic electroretinogram response. Five eyes of 3 subjects underwent surgical procedures such as phototherapuetic keratectomy (PTK) and lamellar keratoplasty (LK). Recurrence of the nodular anterior stromal lesions and haze was noted after the surgical procedures in all 5 eyes.

Conclusions : XLRPD results in significant visual disability secondary to severe photophobia and corneal scarring. The corneal lesions and scarring may recur after PTK or LK.

This is an abstract that was submitted for the 2016 ARVO Annual Meeting, held in Seattle, Wash., May 1-5, 2016.

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