Doyne honeycomb retinal dystrophy - functional improvement following subthreshold nanopulse laser treatment: a case report.

Age-related macular degeneration Doyne honeycomb retinal dystrophy (DHRD) Subthreshold nanosecond laser treatment

Journal

Journal of medical case reports
ISSN: 1752-1947
Titre abrégé: J Med Case Rep
Pays: England
ID NLM: 101293382

Informations de publication

Date de publication:
10 Jan 2019
Historique:
received: 22 06 2018
accepted: 27 11 2018
entrez: 11 1 2019
pubmed: 11 1 2019
medline: 2 5 2019
Statut: epublish

Résumé

Based on phenotypic similarities between age-related macular degeneration and the autosomal disorder Doyne honeycomb retinal dystrophy, we report on a single nanolaser treatment of a patient with genotype Doyne honeycomb retinal dystrophy confirmation and evidence of disease progression over 12 months. The case study is the first report of short-term results of subthreshold nanolaser treatment in a patient with Doyne honeycomb retinal dystrophy. A 43-year-old Caucasian man with moderate loss of visual acuity in his left eye (20/40) and normal visual acuity in his right eye (20/20), with clinical Doyne honeycomb retinal dystrophy diagnosis and genetic confirmation of the common heterozygous mutation (EFEMP1) by genetic testing, underwent nanopulse subthreshold laser treatment in his left eye. A safety examination, carried out 7 days after treatment, and clinical follow-up, conducted 60 days following laser treatment, showed improvement of visual acuity from baseline by two letters and a subjective improvement of blurring. While no apparent morphological changes were found on fundoscopy, increased autofluorescence in the treated eye was observed on imaging. In addition, 2 months after nanopulse subthreshold laser treatment, rod-mediated and cone-mediated full-field electroretinography b-wave amplitudes showed an increase from baseline in both the treated eye (300%) and untreated eye (50%). At 2 months after nanopulse subthreshold laser treatment, multifocal electroretinograms showed improvement. Acuity and full-field electroretinography improvement persisted at 6-month follow-up. Sustained improvements in retinal function on electroretinography persisted in both eyes 6 months after treatment, suggesting an enhancement of phototransduction and retinoid recycling induced by nanopulse subthreshold laser treatment. The functional improvement observed in the untreated eye is hypothesized to arise from an increased expression and release of metalloproteinases that circulate systemically.

Sections du résumé

BACKGROUND BACKGROUND
Based on phenotypic similarities between age-related macular degeneration and the autosomal disorder Doyne honeycomb retinal dystrophy, we report on a single nanolaser treatment of a patient with genotype Doyne honeycomb retinal dystrophy confirmation and evidence of disease progression over 12 months. The case study is the first report of short-term results of subthreshold nanolaser treatment in a patient with Doyne honeycomb retinal dystrophy.
CASE PRESENTATION METHODS
A 43-year-old Caucasian man with moderate loss of visual acuity in his left eye (20/40) and normal visual acuity in his right eye (20/20), with clinical Doyne honeycomb retinal dystrophy diagnosis and genetic confirmation of the common heterozygous mutation (EFEMP1) by genetic testing, underwent nanopulse subthreshold laser treatment in his left eye. A safety examination, carried out 7 days after treatment, and clinical follow-up, conducted 60 days following laser treatment, showed improvement of visual acuity from baseline by two letters and a subjective improvement of blurring. While no apparent morphological changes were found on fundoscopy, increased autofluorescence in the treated eye was observed on imaging. In addition, 2 months after nanopulse subthreshold laser treatment, rod-mediated and cone-mediated full-field electroretinography b-wave amplitudes showed an increase from baseline in both the treated eye (300%) and untreated eye (50%). At 2 months after nanopulse subthreshold laser treatment, multifocal electroretinograms showed improvement. Acuity and full-field electroretinography improvement persisted at 6-month follow-up.
CONCLUSIONS CONCLUSIONS
Sustained improvements in retinal function on electroretinography persisted in both eyes 6 months after treatment, suggesting an enhancement of phototransduction and retinoid recycling induced by nanopulse subthreshold laser treatment. The functional improvement observed in the untreated eye is hypothesized to arise from an increased expression and release of metalloproteinases that circulate systemically.

Identifiants

pubmed: 30626431
doi: 10.1186/s13256-018-1935-1
pii: 10.1186/s13256-018-1935-1
pmc: PMC6327555
doi:

Types de publication

Case Reports Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

5

Références

Nat Genet. 1999 Jun;22(2):199-202
pubmed: 10369267
Matrix Biol. 1999 Oct;18(5):469-80
pubmed: 10601734
Proc Natl Acad Sci U S A. 2002 Oct 1;99(20):13067-72
pubmed: 12242346
J Biol Chem. 2004 Jul 16;279(29):30469-73
pubmed: 15123717
Eye (Lond). 2005 Jan;19(1):11-5
pubmed: 15218514
Klin Monbl Augenheilkd. 2005 Mar;222(3):180-5
pubmed: 15785976
Am J Ophthalmol. 2006 Feb;141(2):404-7
pubmed: 16458713
J Biol Chem. 2007 Apr 20;282(16):11805-16
pubmed: 17324935
Lasers Surg Med. 2011 Aug;43(6):499-510
pubmed: 21761420
Graefes Arch Clin Exp Ophthalmol. 2013 Mar;251(3):705-14
pubmed: 22814526
Am J Ophthalmol. 2013 Jan;155(1):190-8
pubmed: 23036572
Invest Ophthalmol Vis Sci. 2013 Mar 28;54(3):2305-18
pubmed: 23439601
Invest Ophthalmol Vis Sci. 2013 Mar 28;54(3):2319-32
pubmed: 23439603
Clin Exp Ophthalmol. 2014 Jul;42(5):466-79
pubmed: 24118741
Retina. 2015 Jan;35(1):48-57
pubmed: 25077532
FASEB J. 2015 Feb;29(2):696-710
pubmed: 25392267
Adv Exp Med Biol. 2016;854:153-8
pubmed: 26427406
Hum Mol Genet. 1996 Jul;5(7):1055-9
pubmed: 8817347

Auteurs

Andrea Cusumano (A)

University of Rome Tor Vergata, Via Montpellier 100133, Rome, Italy. cusumano@cusumano.com.

Benedetto Falsini (B)

Department of Ophthalmology, Catholic University of Rome, Rome, Italy.

Emiliano Giardina (E)

Molecular Genetics Laboratory UILDM, Santa Lucia Foundation, Rome, Italy.

Raffaella Cascella (R)

Molecular Genetics Laboratory UILDM, Santa Lucia Foundation, Rome, Italy.

Jacopo Sebastiani (J)

Department of Ophthalmology, Tor Vergata University of Rome, Rome, Italy.

John Marshall (J)

UCL Institute of Ophthalmology, University College, London, UK.

Articles similaires

[Redispensing of expensive oral anticancer medicines: a practical application].

Lisanne N van Merendonk, Kübra Akgöl, Bastiaan Nuijen
1.00
Humans Antineoplastic Agents Administration, Oral Drug Costs Counterfeit Drugs

Smoking Cessation and Incident Cardiovascular Disease.

Jun Hwan Cho, Seung Yong Shin, Hoseob Kim et al.
1.00
Humans Male Smoking Cessation Cardiovascular Diseases Female
Humans United States Aged Cross-Sectional Studies Medicare Part C
1.00
Humans Yoga Low Back Pain Female Male

Classifications MeSH