Literature DB >> 33516254

Using pre-existing social networks to determine the burden of disease and real-life needs in rare diseases: the example of Thygeson's superficial punctate keratitis.

Rana Saad1, Sami Saad2, Oscar Haigh3, Domitille Molinari4, Marc Labetoulle1,3, Antoine Rousseau5,6.   

Abstract

BACKGROUND: Thygeson's superficial punctate keratitis (TSPK) is a rare and still poorly understood disease of the ocular surface, responsible for recurrent episodes of photophobia and eye pain. While TSPK is considered as a benign condition, a subset of patients has frequent recurrences or even chronic disease, two situations in which there are currently no therapeutic guidelines. We used a preexisting Facebook TSPK patient support group to assess the clinical journey and the burden of disease of TSPK.
RESULTS: An online survey was sent to the patient support group. The first part of the questionnaire gathered information on demographics and the patient's clinical journey [diagnostic modalities, symptoms, duration and frequency of recurrent episodes (RE), efficacy and tolerance to treatments]. The second part focused on quality of life (QoL) using the Ocular Surface Disease-QoL (OSD-QoL) questionnaire. Seventy-two patients out of 595 members of the support group completed the questionnaire during the 3-months study period. Eighty percent of patients developed symptoms before 30 years old, and 47% reported a delay in the diagnosis above 1 year. Sixty percent of patients reported over 5 RE yearly, and 18% of RE lasted more than 3 months. Forty percent of all patients used cyclosporine eyedrops (50% of those with > 5 episodes/year) and it was perceived as effective by 72% of these patients. The impact on daily life activities was judged as severe by 22% of patients, while 38% reported reduced professional activity and 80% were deeply saddened by their eye condition.
CONCLUSION: TSPK patients may present with frequent recurrences and/or chronic disease, that result in a severe impact on QoL, and an off-label use of topical immunomodulatory eye drops, suggesting the urgent need for controlled studies. The utility of using social networks for rare ophthalmic disease research includes, faster data collection, data from patients across the globe, and also raises relevant questions about their real needs.

Entities:  

Keywords:  Burden of disease; Clinical journey; Quality of life; Social network; Thygeson’s superficial punctate keratitis

Mesh:

Year:  2021        PMID: 33516254      PMCID: PMC7847580          DOI: 10.1186/s13023-021-01707-6

Source DB:  PubMed          Journal:  Orphanet J Rare Dis        ISSN: 1750-1172            Impact factor:   4.123


  31 in total

1.  PCR for varicella zoster virus genome negative in corneal epithelial cells of patients with Thygeson's superficial punctate keratitis.

Authors:  T Reinhard; M Roggendorf; I Fengler; R Sundmacher
Journal:  Eye (Lond)       Date:  2004-03       Impact factor: 3.775

2.  Superficial punctate keratitis.

Authors:  P THYGESON
Journal:  J Am Med Assoc       Date:  1950-12-30

Review 3.  Celiac disease and endocrine autoimmunity - the genetic link.

Authors:  George J Kahaly; Lara Frommer; Detlef Schuppan
Journal:  Autoimmun Rev       Date:  2018-10-12       Impact factor: 9.754

Review 4.  Thygeson's superficial punctate keratitis: natural history and association with HLA DR3.

Authors:  R W Darrell
Journal:  Trans Am Ophthalmol Soc       Date:  1981

5.  Effect of Topical Tacrolimus in the Treatment of Thygeson's Superficial Punctate Keratitis.

Authors:  Maria Carolina Marquezan; Heloisa Nascimento; Luis Antonio Vieira; Myrna Serapião; Ramon Coral Ghanem; Rubens Belfort; Denise Freitas
Journal:  Am J Ophthalmol       Date:  2015-06-29       Impact factor: 5.258

6.  [Creating a specific diagnostic and quality-of-life questionnaire for patients with ocular surface disease].

Authors:  C Baudouin; C Creuzot-Garcher; T Hoang-Xuan; M-C Rigeade; Y Brouquet; A Bassols; K Benmedjahed; B Arnould
Journal:  J Fr Ophtalmol       Date:  2003-02       Impact factor: 0.818

7.  Topical cyclosporin A in Thygeson's superficial punctate keratitis.

Authors:  T Reinhard; R Sundmacher
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  1999-02       Impact factor: 3.117

8.  Severe impairment of health-related quality of life in patients suffering from ocular surface diseases.

Authors:  C Baudouin; C Creuzot-Garcher; T Hoang-Xuan; M-C Rigeade; Y Brouquet; A Bassols; I Guillemin; K Benmedjahed; B Arnould
Journal:  J Fr Ophtalmol       Date:  2008-04       Impact factor: 0.818

9.  The impact of non-response bias due to sampling in public health studies: A comparison of voluntary versus mandatory recruitment in a Dutch national survey on adolescent health.

Authors:  Kei Long Cheung; Peter M Ten Klooster; Cees Smit; Hein de Vries; Marcel E Pieterse
Journal:  BMC Public Health       Date:  2017-03-23       Impact factor: 3.295

10.  Impact of survey length and compensation on validity, reliability, and sample characteristics for Ultrashort-, Short-, and Long-Research Participant Perception Surveys.

Authors:  Rhonda G Kost; Joel Correa de Rosa
Journal:  J Clin Transl Sci       Date:  2018-07-06
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