An unusual ocular manifestation in Fanconi anemia: Congenital glaucoma

Aslan, Deniz; Özdoğan, Sibel; Önol, Merih; Kaya, Zühre; Gürsel, Türkiz

doi:10.1002/ajh.20232

Cited by 8 publications

(11 citation statements)

References 11 publications

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“…The changes in the crystalline lens in the present study seem to be more related in this study to the SCT treatment than to the actual disease as has been previously reported (Merri- Elgohary et al 2006). None of the patients had increased intraocular pressure or glaucomatous changes in the optic nerve and neither ischaemia nor retinal vascularization as previously reported (Aslan et al 2005;Bahar et al 2005;Yahia et al 2006). Optic nerve hypoplasia is defined as a reduced number of axons in the ONH that leads to a small optic disc.…”

Section: Discussionsupporting

confidence: 81%

“…Isolated case reports have described congenital glaucoma (Aslan et al 2005), cataract (Elgohary et al 2006), uveal or optic disc vasculopathy (Yahia et al 2006;Jain et al 2007) and retinoblastoma (Gibbons et al 1995).…”

Section: Introductionmentioning

confidence: 99%

“…Ocular manifestations, reported in almost half (48%) of 419 patients in the International Fanconi Anaemia Registry, were short and ⁄ or almondshaped palpebral fissures, hyper-or hypotelorism, ptosis, microphthalmia and epicanthal folds (Giampietro et al 1997). Isolated case reports have described congenital glaucoma (Aslan et al 2005), cataract (Elgohary et al 2006), uveal or optic disc vasculopathy (Yahia et al 2006;Jain et al 2007) and retinoblastoma (Gibbons et al 1995).…”

Section: Introductionmentioning

confidence: 99%

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Ocular manifestations and visual functions in patients with Fanconi anaemia

Törnquist

Martin

Winiarski

et al. 2013

Acta Ophthalmologica

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ABSTRACT.Purpose: Fanconi anaemia (FA) is a multisystemic disorder with ocular implications. This study aims to describe visual function, ocular characteristics and visual processing skills in patients with FA after haematopoietic stem cell transplantation. Methods: Ten patients with FA, ages 8-17 years, underwent ophthalmological examinations, corneal, periocular and fundus photography, visual evoked potentials (VEPs), visual fields and ocular motor and visual processing information tests. Results: Best-corrected decimal visual acuity was ‡0.65 in all 20 eyes. Microcornea was present in 18 of 18 eyes, short axial lengths in six of six eyes, steep corneal curvatures in four of six eyes, ptosis in 14 of 16 eyes, short palpebral fissures in 15 of 16 eyes and hypotelorism in three of seven patients. Optic disc areas were smaller in patients with FA compared to controls (p = 0.0003 right, p = 0.0003 left eye). Visual fields were abnormal in 4 of 18 eyes, while VEP was abnormal in 1 of 20 eyes. Eight patients had ocular motor dysfunction, while nine of 10 patients showed delay in visual processing skills. Conclusion: Patients with FA can present with microcornea, microphthalmia, ptosis, steep corneal curvatures, small optic discs, ptosis and delay in visual processing skills. Detailed ophthalmological and visual processing skills assessments and developmental investigations are important to detect impairments and facilitate appropriate support.

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Section: Discussionsupporting

confidence: 81%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Ocular manifestations and visual functions in patients with Fanconi anaemia

Törnquist

Martin

Winiarski

et al. 2013

Acta Ophthalmologica

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“…Ocular abnormalities have been reported in up to 38% of patients and include microcornea with or without microphthalmia,18 strabismus, epicanthal folds, ptosis, cataract,19, 20 increased crystalline lens thickness and phacomorphic glaucoma,21 congenital glaucoma22 and retinal vasculopathy leading to ischemia and retinal neovascularization 19, 23, 24…”

Section: Discussionmentioning

confidence: 99%

Ocular and Orbital Manifestations of the Inherited Bone Marrow Failure Syndromes: Fanconi Anemia and Dyskeratosis Congenita

et al. 2010

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Purpose-The inherited bone marrow failure syndromes (IBMFS) are a heterogeneous group of genetic disorders that share the inability of the bone marrow to produce an adequate number of blood cells. The four most frequent syndromes are Fanconi anemia (FA), dyskeratosis congenita (DC), Diamond-Blackfan anemia (DBA) and Shwachman-Diamond syndrome (SDS). All four syndromes have been associated with various physical abnormalities. As part of a genotype/phenotype/cancer susceptibility study, we determined the prevalence of ophthalmic manifestations in these four syndromes.Design-Cross-sectional study of a patient cohort. Methods-Every participant underwent a complete ophthalmic evaluation, as well as digital facial photography with an adhesive paper ruler on the patient's forehead for an internal measure of scale. Interpupillary distance (IPD), inner canthal distance (ICD), outer canthal distance (OCD), palpebral fissure length (PFL) and corneal diameter (CD) were measured. Thirteen of the 22 patients with FA underwent axial length (AL) measurements by A-scan ultrasonography. Participants Main Outcome Measures-Type and prevalence of ophthalmic manifestations.Results-Ninety-five percent of patients with FA had at least one abnormal parameter, and 25% at least four abnormal parameters. Eighty-two percent had small palpebral fissures, 69% simple

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“…12 Endocrinopathies, including growth hormone insufficiency, hypothyroidism, glucose intolerance, hyperinsulinism, and/or overt diabetes mellitus, occur in 81% of patients. 4 Nonocular congenital anomalies occur in 65% to 75%, 13,14 with skeletal anomalies, most commonly short stature, radial ray reduction and thumb abnormalities, café-au-lait skin pigmentations, and renal malformations occurring in up to 70%. Less frequent abnormalities include hypogonadism; mental retardation; and gastrointestinal, cardiac, hearing, and central nervous system abnormalities.…”

mentioning

confidence: 99%