Survey of microphthalmia in Japan

Nishina, Sachiko; Kurosaka, Daijiro; Nishida, Yasuhiro; Kondo, Hiroyuki; Kobayashi, Yuri; Azuma, Noriyuki

doi:10.1007/s10384-012-0126-7

Cited by 11 publications

(12 citation statements)

References 18 publications

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“…Epidemiological studies have suggested that cataract is often found in association with microphthalmia. 8,49 Our finding that cataract was the most frequently associated eye abnormality in the NOFCD cohort (Table 2) and can be found in relatives of patients with NOFCD is consistent with these reports. There have been previous instances of pedigrees with this pairing of eye abnormalities.…”

Section: Discussionsupporting

confidence: 89%

Microphthalmia, Anophthalmia, and Coloboma and Associated Ocular and Systemic Features

et al. 2013

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IMPORTANCE Microphthalmia, anophthalmia, and coloboma form an interrelated spectrum of congenital eye abnormalities. OBJECTIVE To document the ocular and systemic findings and inheritance patterns in patients with microphthalmia, anophthalmia, and coloboma disease to gain insight into the underlying developmental etiologies. DESIGN, SETTING, AND PARTICIPANTS This retrospective consecutive case series was conducted at a tertiary referral center. Included in the study were 141 patients with microphthalmia, anophthalmia, and coloboma disease without a recognized syndromic etiology who attended the Westmead Children's Hospital, Sydney, from 1981-2012. EXPOSURE Cases were grouped on the basis of the presence or absence of an optic fissure closure defect (OFCD); those with OFCD were further subdivided into microphthalmic and nonmicrophthalmic cases. Anophthalmic cases were considered as a separate group. MAIN OUTCOMES AND MEASURES Associated ocular and systemic abnormalities and inheritance patterns were assessed. RESULTS Of 141 cases, 61 (43%) were microphthalmic non-OFCD (NOFCD), 34 (24%) microphthalmic OFCD, 32 (23%) nonmicrophthalmic coloboma (OFCD), 9 (6%) anophthalmic, and 5 (4%) were unclassified. Sixty-three (45%) had bilateral disease. Eighty-four patients (60%) had an associated ocular abnormality; of these, cataract (P < .001) and posterior segment anomalies (P < .001) were most common in the NOFCD group. Forty-eight (34%) had an associated systemic abnormality, most commonly neurological, musculoskeletal and facial, urological and genital, or cardiac. Neurological abnormalities were most common in the anophthalmic group (P = .003), while urological abnormalities were particularly seen in the OFCD groups (P = .009). Familial cases were identified in both the OFCD and NOFCD groups, with a likely autosomal dominant inheritance pattern in 9 of 10 families. CONCLUSIONS AND RELEVANCE This series indicated that the OFCD/NOFCD distinction may be useful in guiding evaluation for ocular and systemic associations, as well as the direction and analysis of genetic investigation.

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Section: Discussionsupporting

confidence: 89%

Microphthalmia, Anophthalmia, and Coloboma and Associated Ocular and Systemic Features

et al. 2013

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“…The incidence of glaucoma is 77% in elderly patients with relative anterior microphthalmus (cornea diameter <11 mm, axial length >20 mm) (29). Microphthalmia, which is always accompanied with microcornea, is considered a primary risk factor of angle-closure glaucoma (30). Mutations in a number of genes have been linked to ASD, microcornea and microphthalmia (31)(32)(33)(34)(35)(36), and some of these were recently reported to be responsible for primary glaucoma (37,38).…”

Section: Introductionmentioning

confidence: 99%

Mutation analysis of the genes associated with anterior segment dysgenesis, microcornea and microphthalmia in 257 patients with glaucoma

Huang

Xiao

Jia

et al. 2015

International Journal of Molecular Medicine

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Genetic factors have an important role in the development of glaucoma; however, the exact genetic defects remain to be identified in the majority of patients. Glaucoma is frequently observed in patients with anterior segment dysgenesis (ASD), microcornea or microphthalmia. The present study aimed to detect the potential mutations in the genes associated with ASD, microcornea and microphthalmia in 257 patients with glaucoma. Variants in 43 of the 46 genes, which are associated with ASD, microcornea or microphthalmia, were available in whole‑exome sequencing. Candidate variants in the 43 genes were selected following multi‑step bioinformatic analysis and were subsequently confirmed by Sanger sequencing. Confirmed variants were further validated by segregation analysis and analysis of controls. Overall, 70 candidate variants were selected from whole‑exome sequencing, of which 53 (75.7%) were confirmed by Sanger sequencing. In total, 27 of the 53 were considered potentially pathogenic based on bioinformatic analysis and analysis of controls. Of the 27, 6 were identified in BEST1, 4 in EYA1, 3 in GDF6, 2 in BMP4, 2 in CRYBA4, 2 in HCCS, and 1 in each of CRYAA, CRYGC, CRYGD, COL4A1, FOXC1, GJA8, PITX2 and SHH. The 27 variants were detected in 28 of 257 (10.9%) patients, including 11 of 125 patients with primary open‑angle glaucoma and 17 of 132 patients with primary angle‑closure glaucoma. Variants in these genes may be a potential risk factor for primary glaucoma. Careful clinical observation and analysis of additional patients in different populations are expected to further these findings.

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“…Between 60 and 80% of cases of microphthalmia are syndromic, however lower incidences were found in a Japanese population with only 31% found with systemic features [61,[67][68][69]. Syndromic involvement is expected at 2.7 times higher in bilateral cases of microphthalmia rather then unilateral cases [68]…”

Section: Estimated Frequency Of the Diseasementioning

confidence: 94%

CUGC for syndromic microphthalmia including next-generation sequencing-based approaches

Eintracht¹,

Cortón

FitzPatrick

et al. 2020

Eur J Hum Genet

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Survey of microphthalmia in Japan

Abstract: Patients with microphthalmia often have ocular and systemic anomalies. Early assessment and preservation of vision and long-term complication management are needed.

Cited by 11 publications

References 18 publications

Microphthalmia, Anophthalmia, and Coloboma and Associated Ocular and Systemic Features

Microphthalmia, Anophthalmia, and Coloboma and Associated Ocular and Systemic Features

Mutation analysis of the genes associated with anterior segment dysgenesis, microcornea and microphthalmia in 257 patients with glaucoma

CUGC for syndromic microphthalmia including next-generation sequencing-based approaches

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