Drusen of the optic disc

Lam, Byron L.; Morais, Christopher G.; Pasol, Joshua

doi:10.1007/s11910-008-0062-6

Cited by 92 publications

(72 citation statements)

References 38 publications

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“…6,36e38 They occur typically in small optic discs and are hypothesized to be caused by abnormalities in axoplasmic transport, axonal degeneration, and possibly a small scleral canal. 39 Calcium deposits within the optic nerve axonal mitochondria and the extracellular space lead to optic disc drusen. 40 Retinitis pigmentosa accompanied by optic disc drusen also has been reported in association with mutations in the MFRP gene, where it is accompanied by (posterior) microphthalmos and high hyperopia, 41,42 as well as in some reports of Usher syndrome.…”

Section: Discussionmentioning

confidence: 99%

Genotypic and Phenotypic Characteristics of CRB1 -Associated Retinal Dystrophies

et al. 2017

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Purpose: To describe the phenotype, long-term clinical course, clinical variability, and genotype of patients with CRB1-associated retinal dystrophies.Design: Retrospective cohort study. Participants: Fifty-five patients with CRB1-associated retinal dystrophies from 16 families. Methods: A medical record review of 55 patients for age at onset, medical history, initial symptoms, bestcorrected visual acuity, ophthalmoscopy, fundus photography, full-field electroretinography (ffERG), Goldmann visual fields (VFs), and spectral-domain optical coherence tomography.Main Outcome Measures: Age at onset, visual acuity survival time, visual acuity decline rate, and electroretinography and imaging findings.Results: A retinitis pigmentosa (RP) phenotype was present in 50 patients, 34 of whom were from a Dutch genetic isolate (GI), and 5 patients had a Leber congenital amaurosis phenotype. The mean follow-up time was 15.4 years (range, 0e55.5 years). For the RP patients, the median age at symptom onset was 4.0 years. In the RP group, median ages for reaching low vision, severe visual impairment, and blindness were 18, 32, and 44 years, respectively, with a visual acuity decline rate of 0.03 logarithm of the minimum angle of resolution per year. The presence of a truncating mutation did not alter the annual decline rate significantly (P ¼ 0.75). Asymmetry in visual acuity was found in 31% of patients. The annual VF decline rate was 5% in patients from the genetic isolate, which was significantly faster than in non-GI patients (P < 0.05). Full-field electroretinography responses were extinguished in 50% of patients, were pathologically attenuated without a documented rod or cone predominance in 30% of patients, and showed a rodecone dysfunction pattern in 20% of RP patients. Cystoid fluid collections in the macula were found in 50% of RP patients.Conclusions: Mutations in the CRB1 gene are associated with a spectrum of progressive retinal degeneration. Visual acuity survival analyses indicate that the optimal intervention window for subretinal gene therapy is within the first 2 to 3 decades of life. Ophthalmology 2017;124:884-895 ª 2017 by the American Academy of Ophthalmology Supplemental material available at www.aaojournal.org.Mutations in the CRB1 gene are associated with a wide variety of severe retinal dystrophies with variable phenotypes, including panretinal dystrophies such as retinitis pigmentosa (RP), Leber congenital amaurosis (LCA), and coneerod dystrophy, as well as central phenotypes such as isolated macular dystrophy and foveal retinoschisis. Retinitis pigmentosa is a clinically and genetically heterogeneous disorder. Mutations in the CRB1 gene have been associated with RP12, a distinct form of RP characterized by preservation of para-arteriolar retinal pigment epithelium, progressive visual field (VF) loss starting from the first decade of life, and early macular involvement. 4 Other common features are hyperopia and optic disc drusen, previously described in a Dutch genetic isolate (GI). 5Classic forms of earl...

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Section: Discussionmentioning

confidence: 99%

Genotypic and Phenotypic Characteristics of CRB1 -Associated Retinal Dystrophies

et al. 2017

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“…Increased intracranial pressure can result in hyperreflexia and papilledema. 3,4 The differential for raised intracranial pressure is very broad and includes the following: Laboratory testing revealed a leukocytosis of 14.4 k/mL (70% neutrophils) with a normal hemoglobin and platelet count. Electrolytes were within normal ranges except a glucose level of 53 mg/dL.…”

Section: Question For Considerationmentioning

confidence: 99%

Clinical Reasoning: A 25-year-old man with headaches and collapse

Syed¹,

Westwood²

2013

Neurology

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Section: Discussionmentioning

confidence: 99%

“…Optic disc drusen is not easily identifiable in children as mostly the drusen are usually buried within the disc [6], are asymptomatic, vary in size and are undetectable by fundoscopy. The only sign in some cases is a mild or moderate elevation of the optic disc that may represent true papilloedema or pseudopapilloedema [6] [13]. A case involving elevated optic disc identified at 5 years of age that developed faint signs of drusen at 12 years had been documented [9]; with progression from anomalous optic discs to ophthalmoscopically visible optic nerve drusen occurring over a 16-year period.…”

Section: Discussionmentioning

confidence: 99%

“…The commonest of the eye abnormalities however is the dotand-fleck retinopathy that is seen in 85% of X-linked males [3]. Optic disc drusen are however acellular calcific deposits occurring in small and crowded optic discs with abnormal vasculature, and evidence suggests axoplasmic transport alteration and axonal degeneration are involved in its formation [6] [7]. This is a case report of Alport syndrome that was confirmed following a protracted period where investigations for papilloedema initially lead to a diagnosis of optic disc drusen in a child.…”

Section: Introductionmentioning

confidence: 99%

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Optic Disc Drusen in a Child Diagnosed with Alport Syndrome—Case Report

Sambo¹,

Aslam²,

Padmanabha³

2014

OJNeph

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Optic disc drusen are eye abnormalities characterised by calcific degeneration affecting some axons of the optic nerve. Alport syndrome is a collagen IV related nephropathy with well-described pathognomonic ocular features. We present the case of a child who following series of investigations was found to have bilateral optic disc drusen, and eventually a further diagnosis of Alport syndrome confirmed. Literature is clear on the underlined aetiology responsible for both renal and extra renal abnormalities of Alport syndrome, which is not related to development of optic disc drusen. The case described makes it pertinent that not only the associated eye signs of Alport syndrome are monitored, but also early detection of other possible co-existing diseases that may influence outcomes.

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Drusen of the optic disc

Cited by 92 publications

References 38 publications

Genotypic and Phenotypic Characteristics of CRB1 -Associated Retinal Dystrophies

Genotypic and Phenotypic Characteristics of CRB1 -Associated Retinal Dystrophies

Clinical Reasoning: A 25-year-old man with headaches and collapse

Optic Disc Drusen in a Child Diagnosed with Alport Syndrome—Case Report

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