July 2019
Volume 60, Issue 9
Free
ARVO Annual Meeting Abstract  |   July 2019
Frequency and causes of visual impairment and blindness in patients with Xeroderma Pigmentosum in Brazil
Author Affiliations & Notes
  • Arthur Fernandes
    Universidade Federal de Sao Paulo, S�o Paulo, S�o Paulo, Brazil
  • Allexya Affonso
    Universidade Federal de Sao Paulo, S�o Paulo, S�o Paulo, Brazil
  • Hermano Lucio Gomes de Assis Filho
    Universidade Federal de Sao Paulo, S�o Paulo, S�o Paulo, Brazil
  • Renato Santana
    Universidade Federal de Sao Paulo, S�o Paulo, S�o Paulo, Brazil
  • Ever Ernesto Caso Rodriguez
    Universidade Federal de Sao Paulo, S�o Paulo, S�o Paulo, Brazil
  • Jeison Barros
    Universidade Federal de Sao Paulo, S�o Paulo, S�o Paulo, Brazil
  • Marcia Lowen
    Universidade Federal de Sao Paulo, S�o Paulo, S�o Paulo, Brazil
  • Rossen Mihaylov Hazarbassanov
    Universidade Federal de Sao Paulo, S�o Paulo, S�o Paulo, Brazil
  • Nivea Nunes Ferraz
    Universidade Federal de Sao Paulo, S�o Paulo, S�o Paulo, Brazil
  • Paula Yuri Sacai
    Universidade Federal de Sao Paulo, S�o Paulo, S�o Paulo, Brazil
  • Melina Morales
    Universidade Federal de Sao Paulo, S�o Paulo, S�o Paulo, Brazil
  • Jose Alvaro Gomes
    Universidade Federal de Sao Paulo, S�o Paulo, S�o Paulo, Brazil
  • Rubens Belfort Neto
    Universidade Federal de Sao Paulo, S�o Paulo, S�o Paulo, Brazil
  • Footnotes
    Commercial Relationships   Arthur Fernandes, None; Allexya Affonso, None; Hermano Filho, None; Renato Santana, None; Ever Rodriguez, None; Jeison Barros, None; Marcia Lowen, None; Rossen Hazarbassanov, None; Nivea Nunes Ferraz, None; Paula Sacai, None; Melina Morales, None; Jose Alvaro Gomes, None; Rubens Belfort Neto, None
  • Footnotes
    Support  None
Investigative Ophthalmology & Visual Science July 2019, Vol.60, 3563. doi:
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      Arthur Fernandes, Allexya Affonso, Hermano Lucio Gomes de Assis Filho, Renato Santana, Ever Ernesto Caso Rodriguez, Jeison Barros, Marcia Lowen, Rossen Mihaylov Hazarbassanov, Nivea Nunes Ferraz, Paula Yuri Sacai, Melina Morales, Jose Alvaro Gomes, Rubens Belfort Neto; Frequency and causes of visual impairment and blindness in patients with Xeroderma Pigmentosum in Brazil. Invest. Ophthalmol. Vis. Sci. 2019;60(9):3563.

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

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Abstract

Purpose : Xeroderma Pigmentosum (XP) is a rare type of genodermatosis inherited as an autosomal recessive condition characterized as a hypersensitivity to sunlight resulting in exaggerated photoaging and photocarcinogenesis, with ocular manifestations described in 40-100% of patients. This study aimed to determine frequency and causes of visual impairment and blindness and to characterize ocular surface of XP patients in Brazil.

Methods : Patients were recruited over social media for a single day evaluation at Department of Ophthalmology - Federal University of Sao Paulo. The protocol included a complete ophthalmological exam with presenting (PVA) and best corrected (BCVA) visual acuities, automatized and subjective refractions, biomicroscopy, fundus evaluation plus specular microscopy, anterior and posterior photograph and optical coherence tomography, meibography (Keratograph; Oculus, Inc., Arlington, WA), and impression cytology. Visual impairment/blindness frequency was determined according to PVA in the better-seeing eye.

Results : Out of 32 participants (62.5% females) aged 25.53±15.70 years old, 10 (31.2%) had normal vision (PVA≥20/32), 11 (34.4%) moderate visual impairment (PVA<20/32 and ≥20/63), 6 (18.7%) visual impairment (PVA<20/63 and ≥20/200), and 5 (15.7%) severe blindness (PVA<20/400). The most frequent causes of visual impairment and blindness were leucoma due to tumor topic treatment (21.7%) and refractive errors (21.7%). Ocular surface squamous neoplasia (OSSN) was detected in 19 individuals (59.4%). 8 cases of papilloma (25.0%), 2 of melanoma (6.2%) and 1 of basal cell carcinoma (3.1%) were also identified. Meibography showed severe reduction of meibomian glands, grade 2 for superior and grade 3 for inferior eyelids. Impression cytology has confirmed the clinical OSSN diagnosis in all suspected cases and revealed subclinical microscopic disease in 5 patients. In general, 24 (75.0%) patients have developed any kind of ocular tumoral manifestation.

Conclusions : Most patients have shown ocular tumoral manifestations of XP leading to visual impairment and blindness in 1/4 of the cases. Posterior analysis of DNA samples might elucidate the roll of different genotypes on ophthalmic findings related to the disease.

This abstract was presented at the 2019 ARVO Annual Meeting, held in Vancouver, Canada, April 28 - May 2, 2019.

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