Ophthalmological screening guidelines for individuals with Osteogenesis Imperfecta: a scoping review

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A total of 139 unique articles were retrieved from PubMed and Medline (OVID) (Fig. 1). Screening of the title and abstract, followed by full-text screening, yielded a total of 12 articles which met the eligibility criteria. No additional articles were successfully identified via the references snowball technique. Twenty-three articles (58%) were rejected as the authors did not propose any screening or patient care recommendations derived from their findings. The PRISMA flow diagram, which provides details about the selection process, is shown in Fig. 1.

Fig. 1figure 1Characteristics of studies

Cumulatively, 1,084 individuals with OI were included for study [6,7,8,9,10,11,12,13,14,15,16,17]. Most final articles were case reports or case-series (n = 6, 50%, n = 15/1084 = < 0.01%, Fig. 2a) [7, 8, 14,15,16,17], followed by case-control studies (n = 4, 33%, n = 984/1084 = 91%, Fig. 2a) [6, 9, 11, 13]. One cross sectional study design (n = 1, 8%, n = 85/1084 = 0.08%, Fig. 2a) [12] and one case series were found (n = 1, 8%, n = 8/1084, < 0.01%) [10]. Most articles were published in the last seven years (n = 11, 92%, n = Fig. 2b) [6,7,8,9,10, 12,13,14,15,16,17]. The majority of recommendations originate from studies conducted in Western Europe (n = 5, 42%, n = 954/1084 = 88%) [6, 8,9,10, 12] and Turkey (n = 4, 33%, n = 62/1084 = 6%) [7, 11, 13, 17] (Table 1). The majority of the recommendations are derived from high-income countries (n = 7, 58%, n = 1040/1084 = 95%) (Table 1) [6, 8,9,10, 12, 14, 15], and the rest come from upper-middle-income countries (n = 5, 42%, n = 63/1084 = 5%) (Table 1) [7, 11, 13, 16, 18]. A large portion of the articles had adults only as participants (n = 6, 50%, 1033/1084 = 95%) [6,7,8,9, 12, 16]. Some articles only included children (n = 4, 33%, 26/1084 = 2%) [11, 14, 15, 17], and others included a mix of both children and adults (n = 2, 17%, 25/1084 = 2%) [10, 13].

Fig. 2figure 2

Type of data sources (2a) and publication dates (2b) of available ophthalmological recommendations for patients with OI (n = 12)

Table 1 Study characteristics and ocular screening guidelines and recommendations for OI patients derived from 12 studies (n = 1,084)Ophthalmological screening

Several authors recommended using corneal tomography for OI patients (n = 5, 42%, Fig. 3) [9, 11,12,13,14]. This 3-D imaging modality allows clinicians to assess corneal thickness distribution, specifically the central corneal thickness (CCT) [19]. Other recommendations include general “regular examination” by an ophthalmologist (n = 2, 17%) [6, 14], fundoscopic examinations (n = 1, 8%) [16], corneal hysteresis measurement (n = 1, 8%) [10], glaucoma screening (n = 1, 8%) [7] and retinal abnormality screening (n = 1, 8%) [8]. The frequency of these examinations was not specified by the authors. Scollo et al. (2018) recommended using genetic testing as a marker for retinal abnormality risk in their case report and, as such, used for screening and identifying high-risk OI patients. (n = 1, 8%, Table 1) [15].

Fig. 3figure 3

Summary of the screening recommendations for OI patients

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