Keratoconus in a 4-year-old Girl with a Strong Family History of Keratoconus

Shehadeh, Mohammad; Akkawi, Mohammad; Aghbar, Ammar A

doi:10.17925/usor.2018.11.1.56

Cited by 3 publications

(4 citation statements)

References 13 publications

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“…Another child had severe eye rubbing, which is also a known risk factor for keratoconus. The third reported case involved a child who also had a strong family history of keratoconus …”

Section: Discussionmentioning

confidence: 99%

Fifteen‐year follow‐up of a four‐year‐old with keratoconus

Meyer

2020

Clinical and Experimental Optometry

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A four-year-old girl accompanied her eightyear-old brother to an eye clinic in 2000 where he was diagnosed with keratoconus. Corneal tomography (Orbscan, Bausch & Lomb, Rochester, NY, USA) was also performed on the four-year-old (at the request of her parent) given the strong family history of keratoconus in her father and sibling. She did not have any significant medical history and her parents had not noticed any eye rubbing or problems with her vision. Visual acuity and slitlamp examination were not performed. Corneal tomography demonstrated bilateral inferior steepening with thin corneas (thinnest pachymetry 478 μm right, 465 μm left) and elevation of the posterior float (54 μm right, 63 μm left), consistent with at least subclinical keratoconus ( Figure 1A).Repeat corneal tomography was performed again at age 12 and did not show any significant changes in either eye ( Figure 1B); slitlamp examination and visual acuity were not performed.The child was not seen again until age 15 at which time the visual acuity was noted to be: right 6/5 unaided, left 6/15 (+1.00 −3.00 × 135 = 6/7.5). Corneal tomography showed signs of progressive keratoconus in the left eye with increased steepening,

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“…Another child had severe eye rubbing, which is also a known risk factor for keratoconus. The third reported case involved a child who also had a strong family history of keratoconus …”

Section: Discussionmentioning

confidence: 99%

Fifteen‐year follow‐up of a four‐year‐old with keratoconus

Meyer

2020

Clinical and Experimental Optometry

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“…Several reasons might explain the discrepancy in DS patients and KC's prevalence, including the clinical equipment utilized, ethnicity, the lack of cooperation from patients during screening, the diagnostic criteria for KC, sample size, and the patient's age during clinical examinations (<18 years) [30,42,59,60]. It is well known that KC manifests itself throughout the adolescent years, although some are reported to have an onset <10 years old [5,[61][62][63][64]. In a study by Alio et al, the authors noted that approximately 75% of 112 DS patients, comprising 59% Caucasians and 41% Arabs, demonstrated corneal features likely to be characteristic of KC [30].…”

Section: Ophthalmic Manifestations Of Down Syndromementioning

confidence: 99%

The Underlying Relationship between Keratoconus and Down Syndrome

Akoto

Estes

et al. 2022

IJMS

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Keratoconus (KC) is one of the most significant corneal disorders worldwide, characterized by the progressive thinning and cone-shaped protrusion of the cornea, which can lead to severe visual impairment. The prevalence of KC varies greatly by ethnic groups and geographic regions and has been observed to be higher in recent years. Although studies reveal a possible link between KC and genetics, hormonal disturbances, environmental factors, and specific comorbidities such as Down Syndrome (DS), the exact cause of KC remains unknown. The incidence of KC ranges from 0% to 71% in DS patients, implying that as the worldwide population of DS patients grows, the number of KC patients may continue to rise significantly. As a result, this review aims to shed more light on the underlying relationship between KC and DS by examining the genetics relating to the cornea, central corneal thickness (CCT), and mechanical forces on the cornea, such as vigorous eye rubbing. Furthermore, this review discusses KC diagnostic and treatment strategies that may help detect KC in DS patients, as well as the available DS mouse models that could be used in modeling KC in DS patients. In summary, this review will provide improved clinical knowledge of KC in DS patients and promote additional KC-related research in these patients to enhance their eyesight and provide suitable treatment targets.

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“…5,6 Literature reports KCN occurring in patients as young as 4 years old. 7,8 Current estimates for the incidence of KCN in all age groups are 1 in 2000 for the United States. 2 Some studies report KCN incidence as high as 1 in 200 in the pediatric population, representing 2.9% of KCN in all ages.…”

Section: Introductionmentioning

confidence: 99%

“…Studies on KCN have reported the average age of onset to be around puberty, with the diagnosis in young children considered relatively rare 5,6. Literature reports KCN occurring in patients as young as 4 years old 7,8. Current estimates for the incidence of KCN in all age groups are 1 in 2000 for the United States 2.…”

Section: Introductionmentioning

confidence: 99%