Genotype-phenotype and OCT correlations in Autosomal Dominant Optic Atrophy related to OPA1 gene mutations: Report of 13 Italian families

Pretegiani, Elena; Rosini, Francesca; Rufa, Alessandra; Gallus, Gian Nicola; Cardaioli, Elena; Pozzo, Paola Da; Bianchi, Silvia; Serchi, Valeria; Collura, M.; Franceschini, Rossella; Marzoli, Stefania Bianchi; Dotti, Maria Teresa; Federico, Antonio

doi:10.1016/j.jns.2017.09.018

Cited by 9 publications

(8 citation statements)

References 35 publications

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“…Mutations in OPA1 are responsible of 32 to 89% cases of autosomal dominant optic atrophy. 15 This disease typically occurs during childhood with progressive bilateral visual loss because of the neurodegeneration of retinal ganglion cells; multifactorial events may influence both its onset and phenotype. [13][14][15] Pretegiani et al 15 reported a neuro-ophthalmologic assessment of an Italian group of patients focusing on 60 OPA1 mutations carriers (52 symptomatic) belonging to 13 families.…”

Section: Discussionmentioning

confidence: 99%

“…15 This disease typically occurs during childhood with progressive bilateral visual loss because of the neurodegeneration of retinal ganglion cells; multifactorial events may influence both its onset and phenotype. [13][14][15] Pretegiani et al 15 reported a neuro-ophthalmologic assessment of an Italian group of patients focusing on 60 OPA1 mutations carriers (52 symptomatic) belonging to 13 families. The authors discovered four known mutations, the most common being a lack of conscience c1034G > A, and a new missense mutation, c1193A > C. This new missense mutation was found in a 54-year-old woman with the late-onset phenotype.…”

Section: Discussionmentioning

confidence: 99%

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Optic Neuropathy, Secondary to Ethmoiditis, and Onodi Cell Inflammation during Childhood: A Case Report and Review of the Literature

et al. 2019

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Optic neuropathy consists of several etiological events. The primary etiologies of its acute form include optic neuritis, ischemic optic neuropathy, inflammatory (nondemyelinating) disorders, and trauma. Its subacute and chronic forms are most often linked to compressive, toxic, nutritional, or hereditary-genetic causes. Visual loss, dyschromatopsia, and visual field defects are the presenting symptoms. The Onodi cell (sphenoethmoidal air cell) is an anatomic variant located laterally and superior to the sphenoid sinus; it is closely related to the optic nerve. Onodi cell disorders are rare and may be unnoticed in differential diagnoses of patients with ocular and neurological manifestations. Here, we present the case of a 12-year-old boy with headache and acute loss of sight characterized by hemianopsia in the left eye and retrobulbar optic neuropathy caused by left sphenoethmoidal sinusitis with the presence of Onodi cell inflammation. The diagnosis was confirmed by multilayered paranasal computed tomography and cerebral magnetic resonance imaging. Therapeutic treatment resulted in gradual improvement: at the 2-week follow-up, the patient no longer had headaches and his visual acuity returned to normal. Inflammation of Onodi cells should be considered in children with headache and abnormal vision.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Optic Neuropathy, Secondary to Ethmoiditis, and Onodi Cell Inflammation during Childhood: A Case Report and Review of the Literature

et al. 2019

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“…OPA1 encodes a dynamin-related GTPase. OCT can reveal diffuse thinning of the ganglion cell complex layers and retinal nerve fiber layers on the temporal side of the optic disc in patients with ADOA ( Barboni et al, 2014 ; Pretegiani et al, 2017 ; Ham et al, 2019 ). Although the proband and his mother harbored mutations in OPA1 , ADOA could be clinically excluded through fundus, OCT, and VEP examination results.…”

Section: Discussionmentioning

confidence: 99%

“…Autosomal dominant optic atrophy (ADOA) is one of the most common types of autosomal dominant hereditary optic neuropathies, with an incidence of 1:10,000–1:50,000. ADOA varies within and between large families, with a penetrance rate of 40–90%, which is incomplete ( Pretegiani et al, 2017 ). Approximately two-thirds of cases occur in the first decade of life ( Ham et al, 2019 ).…”

Section: Introductionmentioning

confidence: 99%

A boy with amblyopia and familial exudative vitreoretinopathy harboring a new mutation of LRP5 and OPA1: A case report

et al. 2022

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Background: The study aimed to report a boy with familial exudative vitreoretinopathy and amblyopia harboring a new mutation of the LRP5 and OPA1 gene abnormality.Case presentation: A 9-year-old boy presented with a 2-year history of deteriorating visual acuity in the right eye. His best-corrected visual acuity was −7.00/−1.75 × 100 = 0.3 in the right eye and −2.50/−1.50 × 170 = 0.8 in the left eye. Two autosomal dominant gene mutation sites were identified in the patient: LRP5 (c.2551C > T, p.His851Tyr) from his father and OPA1 (c.565G > A, p.Glu189Lys) from his mother. Interestingly, his fraternal twin brother harbored no abnormal gene mutations, and his eye tests were normal.Conclusion: This case expands the spectrum of LRP5 gene mutations among Chinese patients with familial exudative vitreoretinopathy, and it is the first time to report a patient harboring both LRP5 and OPA1 gene mutations having anisometropic amblyopia and strabismus as the primary manifestations. These four family members exhibited individual heterogeneity of phenotypes and genotypes associated with hereditary ophthalmopathy. A comprehensive analysis of clinical phenotypes and genotypes provides clinical clues for improving the level of clinical and genetic diagnoses and a deeper understanding of the disease.

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“…[2][3][4][5] However, variable expressivity is well reported in the literature and identified commonly in mutation screening of affected family members-23% of patients in a report of 30 patients did not have clinical optic atrophy even when examined with a known diagnosis. 3,6,7 Another report of ADOA patients noted that 27% of patients had no symptoms, and 10% had no abnormal clinical examination findings, highlighting variable expressivity. 6 Whether the age of onset of clinical symptoms affects the level of visual function is also not clearly known.…”

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confidence: 99%

Delayed diagnosis of autosomal dominant optic atrophy until seventh decade of life

Raviskanthan

Ahuja

Mortensen

et al. 2022

Canadian Journal of Ophthalmology

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Genotype-phenotype and OCT correlations in Autosomal Dominant Optic Atrophy related to OPA1 gene mutations: Report of 13 Italian families

Cited by 9 publications

References 35 publications

Optic Neuropathy, Secondary to Ethmoiditis, and Onodi Cell Inflammation during Childhood: A Case Report and Review of the Literature

Optic Neuropathy, Secondary to Ethmoiditis, and Onodi Cell Inflammation during Childhood: A Case Report and Review of the Literature

A boy with amblyopia and familial exudative vitreoretinopathy harboring a new mutation of LRP5 and OPA1: A case report

Delayed diagnosis of autosomal dominant optic atrophy until seventh decade of life

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