Topographic Evaluation of Relatives of Patients With Keratoconus

Karimian, Farid; Aramesh, Shiela; Mohammad-Rabei, Hossein; Javadi, Mohammad Ali; Rafati, Nasrin

doi:10.1097/ico.0b013e31816f5edc

Cited by 51 publications

(39 citation statements)

References 19 publications

(28 reference statements)

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Of them, keratoconus was diagnosed in 14% and another 7.3% were considered suspicious of keratoconus. 20 Present report also reinforces the recommendations of those studies in the sense of being particularly aware of potential presentation of keratoconus in direct relatives of diagnosed patients. Another related issue that has been subject of interest in past years has been the potential higher prevalence of keratoconus in monozygotic twins as compared with dizygotic twins.…”

Section: Discussionsupporting

confidence: 67%

Topographical Irregularity and Keratoconic Findings in Five Siblings and their Parents

González-Meijóme¹,

Peixoto-de-Matos²,

Soares³

et al. 2014

International Journal of Keratoconus and Ectatic Corneal Diseases

View full text Add to dashboard Cite

Purpose: To report the clinical features of five siblings, four of them with positive diagnostic of keratoconus in different degrees of severity as well as their parents findings. Materials and methods:Seven elements of the same family, five young siblings (2 males, 3 females), and their parents were screened for potential keratoconic signs. Topographic data from 60 normal eyes are also reported for comparison purposes. Complete ophthalmologic examination including biomicroscopic, topographic and refractive examination. Main outcome measures included biomicroscopic findings, refractive error and visual acuity, simulated keratometry, corneal eccentricity, indices of asymmetry and regularity.Results: The more advanced case was present in the left eye of a male member, needing a rigid gas permeable lens to correct irregular astigmatism. Another brother also presented bilateral mild to moderate keratoconus with no apparent vision complaints. The third case diagnosed was one sister with history of monthly disposable soft toric lens to compensate a presumed initially regular astigmatism two years before. The remaining two cases being the older sister and one of the younger sisters presented the less noticeable signs, with confirmation of the pathology only in one of them and warranting a close followup of both due to the asymmetric corneal topography between both eyes as well as between the flatter superior and steeper inferior corneal areas. Conclusion:This is the first reported case series involving diagnosis of keratoconus or atypical corneal topographies in several young siblings and their parents. Further evaluation of this and other cases with similar presentations might help to gain a deeper understanding on the potential genetic paths of keratoconus.

show abstract

Section: Discussionsupporting

confidence: 67%

Topographical Irregularity and Keratoconic Findings in Five Siblings and their Parents

González-Meijóme¹,

Peixoto-de-Matos²,

Soares³

et al. 2014

International Journal of Keratoconus and Ectatic Corneal Diseases

View full text Add to dashboard Cite

show abstract

“…Most clinicians agree that KC should be suspected in patients with higher degrees of astigmatism, astigmatism with oblique axis, as well as when progression in astigmatism and/or spherical refraction occurs (Karimian et al, 2008; Serdarogullari et al, 2013) Steep corneal curvature and a lack of 20/20 visual acuity in a non-amblyopic eye with optimal refraction, should also raise suspicion.…”

Section: Keratoconusmentioning

confidence: 99%

Pathogenesis of Keratoconus: The intriguing therapeutic potential of Prolactin-inducible protein

Sharif

Bak‐Nielsen

Hjortdal

et al. 2018

Progress in Retinal and Eye Research

View full text Add to dashboard Cite

Keratoconus (KC) is the most common ectatic corneal disease, with clinical findings that include discomfort, visual disturbance and possible blindness if left untreated. KC affects approximately 1:400 to 1:2000 people worldwide, including both males and females. The aetiology and onset of KC remains a puzzle and as a result, the ability to treat or reverse the disease is hampered. Sex hormones are known to play a role in the maintenance of the structure and integrity of the human cornea. Hormone levels have been reported to alter corneal thickness, curvature, and sensitivity during different times of menstrual cycle. Surprisingly, the role of sex hormones in corneal diseases and KC has been largely neglected. Prolactin-induced protein, known to be regulated by sex hormones, is a new KC biomarker that has been recently proposed. Studies herein discuss the role of sex hormones as a control mechanism for KC onset and progression and evidence supporting the view that prolactin-induced protein is an important hormonally regulated biomarker in KC is discussed.

show abstract

“…Major environmental and behavioural factors include contact lens wear 5 and chronic eye rubbing 6 . The genetic aetiology is evidenced by the bilaterality, familial aggregation 7–9 , monozygotic twins concordant of the disease 10 , its association with other genetic diseases such as Down syndrome 11 and Leber’s congenital amaurosis 12 , and the ethnic difference in the prevalence and incidences 13 . Genetic associations for keratoconus will provide insight into disease mechanisms and help identify biomarkers for early detection of keratoconus onset and monitoring its progression.…”

Section: Introductionmentioning

confidence: 99%

Genetic associations for keratoconus: a systematic review and meta-analysis

Rong

et al. 2017

Sci Rep

View full text Add to dashboard Cite

Genetic associations for keratoconus could be useful for understanding disease pathogenesis and discovering biomarkers for early detection of the disease. We conducted a systematic review and meta-analysis to summarize all reported genetic associations for the disease. We searched in the MEDLINE, Embase, Web of Science, and HuGENET databases for genetic studies of keratoconus published from 1950 to June 2016. The summary odds ratio and 95% confidence intervals of all polymorphisms were estimated using the random-effect model. Among 639 reports that were retrieved, 24 fulfilled required criteria as eligible studies for meta-analysis, involving a total of 53 polymorphisms in 28 genes/loci. Results of our meta-analysis lead to the prioritization of 8 single-nucleotide polymorphisms (SNPs) in 6 genes/loci for keratoconus in Whites. Of them 5 genes/loci were originally detected in genome-wide association studies, including FOXO1 (rs2721051, P = 5.6 × 10−11), RXRA-COL5A1 (rs1536482, P = 2.5 × 10−9), FNDC3B (rs4894535, P = 1.4 × 10−8), IMMP2L (rs757219, P = 6.1 × 10−7; rs214884, P = 2.3 × 10−5), and BANP-ZNF469 (rs9938149, P = 1.3 × 10−5). The gene COL4A4 (rs2229813, P = 1.3 × 10−12; rs2228557, P = 4.5 × 10−7) was identified in previous candidate gene studies. We also found SNPs in 10 genes/loci that had a summary P value < 0.05. Sensitivity analysis indicated that the results were robust. Replication studies and understanding the roles of these genes in keratoconus are warranted.

show abstract

Topographic Evaluation of Relatives of Patients With Keratoconus

Abstract: Relatives of patients with KCN have a high prevalence of undiagnosed KCN. Corneal topography is important for the diagnosis of KCN and KCN suspects in family members of patients with KCN. Therefore, keratorefractive surgery should be considered cautiously in these individuals.

Cited by 51 publications

References 19 publications

Topographical Irregularity and Keratoconic Findings in Five Siblings and their Parents

Topographical Irregularity and Keratoconic Findings in Five Siblings and their Parents

Pathogenesis of Keratoconus: The intriguing therapeutic potential of Prolactin-inducible protein

Genetic associations for keratoconus: a systematic review and meta-analysis

Contact Info

Product

Resources

About