Utility of pattern recognition and multimodal imaging in the diagnosis and management of doyne honeycomb retinal dystrophy complicated with type one choroidal neovascular membrane.

A 44-year-old woman presented with decreased vision in both eyes. The retina in both eyes had drusen distributed along vascular arcades, central macula and in peripapillary region. Macula had pigmented scarring and exudation. Fundus autofluorescence showed drusen. Optical coherence tomography showed drusen, subretinal and intraretinal fluid. Fundus fluorescein and indocyanine green angiography showed drusen, retinal pigment epithelial atrophy and vascular network. Younger age at presentation, bilateral symmetry, typical distribution of drusen along the arcades in a radiating pattern, peripapillary involvement, scarring and atrophy at macula were suggestive of doyne honeycomb retinal dystrophy. The reduced vision was due to macular atrophy and an active choroidal neovascular membrane. The patient was treated with antivascular endothelial growth factor injections for choroidal neovascular membrane. Our case highlights the importance of pattern recognition and multimodal imaging for diagnosing the type of macular dystrophy as doyne honeycomb retinal dystrophy, while simultaneously managing choroidal neovascular membrane.

Peripapillary hyperreflective ovoid mass-like structures (PHOMS): OCTA may reveal new findings.

PURPOSE: Peripapillary hyperreflective ovoid mass-like structures (PHOMS) are novel and not well characterized findings occurring in several disorders of the optic nerve. The aim of this study is to present two cases of tilted disc syndrome (TDS) and one case with optic disc drusen undergoing a multimodal imaging approach. METHODS: In this case series, a qualitative evaluation of the OCTA findings in regions with PHOMS was performed. RESULTS: Structural OCT revealed the presence of PHOMS. OCTA identified the presence of a vascular complex within this hyperreflective structure. CONCLUSIONS: Assuming that PHOMS are thought to correspond to herniating nerve fibers or be secondary to axoplasmic stasis, this vascular complex may represent a displacement of the deeper vessels deputed at the irroration of the optic nerve into the retina or, alternatively, might be secondary to an increase in vascular endothelial growth factor (VEGF) levels and a subsequent development of neovessels.

Angioid streaks and optic disc drusen in cherubism: a case report / Estrias angióides e drusas de disco óptico no Querubismo: um relato de caso

ABSTRACT A 65-year-old female patient was referred to our hospital for evaluation for cataract surgery. Her past medical history included corrective jaw surgeries for facial deformities that developed during infancy and persisted through early adulthood. A complete ophthalmological examination revealed bilateral angioid streaks, drusen in both optic disc areas, and a subretinal neovascular membrane in the left macula. Genetic analysis revealed a mutation in the SH3BP2 gene compatible with the diagnosis of cherubism. Clinical and laboratory evaluation revealed no additional systemic disorders. Cherubism is a rare disease characterized by the development of painless fibro-osseous lesions in the jaws and the maxilla in early childhood. Ophthalmologic findings in this disease are primarily related to orbital bone involvement. This is the first report of AS and optic disc drusen in a patient diagnosed with cherubism. Our findings suggest that angioid streaks and optic disk drusen should be included in the differential diagnosis of ophthalmic disorders identified in patients with this genetic abnormality.

RESUMO Paciente de 65 anos, sexo feminino, foi encaminhada para avaliação de cirurgia de catarata. Relatou história de cirurgias mandibulares para correção de deformação facial desenvolvida ao longo da infância e adolescência. O exame oftalmológico completo mostrou estrias angióides bilaterais, drusas em ambas as áreas dos discos ópticos e membrana neovascular sub-retiniana na mácula esquerda. A análise genética revelou mutação no gene SH3BP2 compatível com o diagnóstico de Querubismo. A avaliação clínica e laboratorial descartou outros distúrbios sistêmicos. O Querubismo é uma doença óssea rara caracterizada pelo desenvolvimento de lesões fibro-ósseas indolores na mandíbula e maxila durante a primeira infância. Os achados oftalmológicos nesta doença estão principalmente relacionados ao envolvimento ósseo orbitário. Este artigo descreve pela primeira vez a ocorrência de estrias angióides e drusas de disco óptico no Querubismo. Enfatizamos que essa condição deve ser incluída no diferencial de pacientes com tais achados, principalmente quando ambos existirem em associação.

Optic disc drusen in children: a diagnostic challenge / Drusas de disco óptico em criança um desafio diagnóstico

Abstract In children, optic disc drusen (ODD) are often mistaken for papilledema, this being the prin-cipal differential diagnosis. This report describes the case of an 11-year old patient with ODD, in which the condition was initially diagnosed as papilledema, and the patient referred for pulse therapy. Fundoscopic examination is important because it is the first examination conducted by the ophthalmologist that is capable of revealing some characteristics of ODD that will aid in the differentiation between this disease and papilledema. In cases of ODD, the optic disc presents blurred margins and elevation of the disc borders, with clearly defined vessels at the papilla border. The differential diagnosis of ODD in children is challenging and requires appropriate management and follow-up to avoid iatrogenesis.

Resumo As drusas de disco óptico (DDO) em crianças são frequentemente confundidas com papiledema, sendo este o principal diagnóstico diferencial. Este artigo relata o caso de uma paciente de 11 anos com DDO, no qual o quadro foi inicialmente diagnosticado como papiledema, e a paciente encaminhada para pulsoterapia. O exame fundoscópico é importante por ser o primeiro exame realizado pelo oftalmologista que é capaz de revelar algumas características das DDO que auxiliarão na diferenciação do papiledema. Nos casos de DDO, o disco óptico apresenta margens mal definidas e bordas elevadas, com vasos na margem da papila bem definidos. O diagnóstico diferencial das DDO em crianças é desafiador e requer conduta e seguimento adequados para evitar iatrogenias.

Coexistence of papilledema and pseudopapilledema after remission of idiopathic intracranial hypertension by bariatric surgery / Coexistência de papiledema e pseudopapiledema após remissão de hipertensão intracraniana idiopática por cirurgia bariátrica

ABSTRACT A 37-year-old woman complained of headaches following bilateral visual loss in the past two years. She was obese and had undergone bariatric surgery three months earlier, followed by a considerable weight loss. Neuro-ophthalmic examination revealed a bilateral swollen optic disk. After a computerized analysis of the visual fields and magnetic resonance imaging of the brain and orbits, a diagnosis of idiopathic intracranial hypertension was made. At six months after the bariatric surgery, the patient reported no further headaches and exhibited better findings on computerized analysis of visual fields. However, fundus examination revealed persistent mild papilledema in both eyes. Ocular B-scan ultrasonography showed bilateral optic disk drusen. This report highlights the coexistence of true papilledema and pseudopapilledema due to optic disk drusen, following remission of idiopathic intracranial hypertension after a bariatric surgery.

RESUMO Uma mulher de 37 anos queixou-se de cefaleia após perda visual bilateral nos últimos dois anos. Apresentava história de obesidade e havia sido submetida à cirurgia bariátrica três meses antes, seguida de considerável perda de peso. O exame neuro-oftálmico revelou um disco óptico inchado bilateral. Após uma análise computadorizada dos campos visuais e ressonância magnética do crânio e órbitas, foi feito um diagnóstico de hiper tensão intracraniana idiopática. Após seis meses da cirurgia bariátrica, a paciente não relatou mais cefaleia e foram descobertas melhoras na análise computadorizada dos campos visuais. No entanto, o exame de fundo de olho revelou papiledema leve persistente em ambos os olhos. A ultrassonografia ocular B-scan mostrou drusas do disco óptico bilateralmente. Este relato destaca a coexistência de papiledema verdadeiro e pseudopapiledema devido à drusa de disco óptico após remissão da hipertensão intracraniana idiopática após uma cirurgia bariátrica.

Coexistence of papilledema and pseudopapilledema after remission of idiopathic intracranial hypertension by bariatric surgery.

A 37-year-old woman complained of headaches following bilateral visual loss in the past two years. She was obese and had undergone bariatric surgery three months earlier, followed by a considerable weight loss. Neuro-ophthalmic examination revealed a bilateral swollen optic disk. After a computerized analysis of the visual fields and magnetic resonance imaging of the brain and orbits, a diagnosis of idiopathic intracranial hypertension was made. At six months after the bariatric surgery, the patient reported no further headaches and exhibited better findings on computerized analysis of visual fields. However, fundus examination revealed persistent mild papilledema in both eyes. Ocular B-scan ultrasonography showed bilateral optic disk drusen. This report highlights the coexistence of true papilledema and pseudopapilledema due to optic disk drusen, following remission of idiopathic intracranial hypertension after a bariatric surgery.

Prevalence and histopathological signatures of optic disc drusen based on microscopy of 1713 enucleated eyes.

PURPOSE: Optic disc drusen (ODD) are calcified optic nerve head deposits. Objectives of this study were to examine the prevalence of ODD in eyes removed by enucleation and to describe related histopathological signatures of ODD and surrounding tissues. METHODS: The study was a retrospective observational case series study assessing and re-evaluating enucleated eyes in Denmark from 1980 to 2015 by microscopy. Individual ODD were described based on size, number and location (superficial and/or deep) within the optic nerve. Optic nerve heads with ODD were assessed for elevated discs, retinal nerve fibre layer (RNFL) thickness, oedematous axons and presence of localized peripapillary axonal distension (LPAD) equivalent to the peripapillary hyperreflective ovoid mass-like structures seen on optical coherence tomography. RESULTS: Microscopy of 1713 eyes revealed ODD in 31 eyes equivalent to a prevalence of 1.8%. Optic disc drusen (ODD) were seen as circular shapes of different sizes and varying number. Elevated discs were present in 15 (54%) of the cases. Thickening of the superficial RNFL was present in eyes with large deeply located ODD. For more superficial ODD of approximately same size, the RNFL was thinner. Oedematous axons were present in three eyes. Localized peripapillary axonal distension (LPAD) was seen in five eyes. CONCLUSIONS: Prevalence of ODD in this study of histopathological signatures was higher than the prevalence found in clinical studies. Our results suggest that large, deep ODD might cause crowding and herniation of axons in the optic nerve head leading to a thickened superficial nerve fibre layer, pseudopapilledema and LPAD.

Angioid streaks and optic disc drusen in cherubism: a case report.

A 65-year-old female patient was referred to our hospital for evaluation for cataract surgery. Her past medical history included corrective jaw surgeries for facial deformities that developed during infancy and persisted through early adulthood. A complete ophthalmological examination revealed bilateral angioid streaks, drusen in both optic disc areas, and a subretinal neovascular membrane in the left macula. Genetic analysis revealed a mutation in the SH3BP2 gene compatible with the diagnosis of cherubism. Clinical and laboratory evaluation revealed no additional systemic disorders. Cherubism is a rare disease characterized by the development of painless fibro-osseous lesions in the jaws and the maxilla in early childhood. Ophthalmologic findings in this disease are primarily related to orbital bone involvement. This is the first report of AS and optic disc drusen in a patient diagnosed with cherubism. Our findings suggest that angioid streaks and optic disk drusen should be included in the differential diagnosis of ophthalmic disorders identified in patients with this genetic abnormality.

[Value of Optical Coherence Tomography Angiography in Neuroophthalmology]. / Stellenwert der optischen Kohärenztomografie-Angiografie bei neuroophthalmologischen Erkrankungen.

Within the last few years, optical coherence tomography angiography (OCTA) has been one of the most intensively investigated developments in ophthalmic research. As a non-invasive imaging tool, it can visualise retinal, choroidal and peripapillary blood flow and was first introduced in retinology. Recently, OCTA has received increasing attention in neuro-ophthalmological diagnostic testing. Special consideration has been given to diseases in which vascular pathogenesis is discussed, such as non-arteritic and arteritic anterior ischemic optic neuropathy (NAION and AAION). Numerous studies have demonstrated rarefication of the peripapillary vascular network and reduced blood flow in NAION and AAION patients compared to healthy patients. The extent of the vascular damage correlates with the severity of optic atrophy. Similar findings also apply to optic atrophy from other causes (e.g., optic nerve head drusen, hereditary optic neuropathy, etc.). However, the exact causal relationships between optic neuropathy and blood flow reduction remain unclear and must be addressed in future investigations. In some diseases, OCTA also seems to be of differential diagnostic value. In haemangioblastomas, it has provided relevant information, especially in large and broad-based findings, and may represent the haemangioblastoma-typical vascular networks and the afferent vessels. This review summarises new information from OCTA studies on neuro-ophthalmic diseases, and questions their relevance and value in clinical use. In the future, it can be expected that OCTA will provide standard values through longitudinal studies with larger numbers of cases that more relevant changes in blood flow in a wide variety of clinical pictures will be analysed more profoundly and will possibly contribute to differential diagnostic and therapeutic studies.

Diagnosis and Imaging of Optic Nerve Head Drusen.

The presence of optic nerve swelling in pediatric patients is a frequent cause for referral to pediatric ophthalmologists and neuro-ophthalmologists because this finding can be the harbinger of serious neurologic disease including brain tumor, demyelinating disease, infiltrative disease of the optic nerve, or idiopathic intracranial hypertension. Optic nerve head drusen (ONHD) are common and can be particularly difficult to distinguish from true optic nerve swelling in pediatric patients because the ONHD are typically buried beneath the substance of the optic nerve. Correct identification of ONHD is relevant because of the visual morbidity associated with this condition and because of the need to distinguish pseudopapilledema secondary to ONHD from true optic nerve swelling. A variety of imaging modalities may be employed to evaluate for the presence of ONHD, including ultrasound, optical coherence tomography (OCT), enhanced depth imaging-OCT, fluorescein angiography, fundus autofluorescence, and optical coherence tomography angiography. To date, there is no consensus as to which of these techniques is most accurate and which should be part of a standardized evaluation for children suspected of ONHD. This review examines the recent literature analyzing these diagnostic tools and summarizes data regarding best practices for identifying ONHD.

Paediatric case of peripapillary choroidal neovascularisation associated with optic disc drusen treated with aflibercept.

Peripapillary choroidal neovascularisation (PPCNV) associated with optic disc drusen is a rare complication that can result in severe vision impairment in children. We report the first case of paediatric PPCNV secondary to optic disc drusen successfully treated with intravitreal aflibercept. A 6-year-old girl presented with a one week history of reduced vision in her right eye with best-corrected visual acuity of 20/500. Fundus examination revealed bilateral elevated discs with a peripapillary pigmentary lesion in the right eye. Optical coherence tomography of the right eye showed marked subfoveal fluid. Both B-scan ultrasonography and fundus autofluorescence demonstrated findings consistent with optic disc drusen. Diagnosis of PPCNV was further confirmed on fluorescein fundus angiography. The child received three intravitreal aflibercept injections with complete resolution of the subfoveal fluid. Her visual acuity improved to 20/25 with no recurrence at a 16-month follow-up. No adverse side effects were reported.

Drusa de nervo ótico associada à estafiloma peripapilar congênito / Optic disk drusen associated with congenital peripapillary staphyloma

Resumo Nós descrevemos uma rara associação entre estafiloma peripapilar congênito e drusa de disco óptico em uma mulher de 47 anos de idade e visão normal.

Abstract We described a rare association between peripapillary staphyloma and optic disk drusen in a woman with 47 years old and normal vision.

SD-OCT to distinguish papilledema from pseudopapilledema.

CASES REPORT: Two patients presented with headache and bilateral papillary edema. Patient 1 was found to have a papilledema (P) with intracranial pressure of 32cmH2O. Patient 2 was found to have a migraine with a pseudopapilledema (PP) (optic nerve head drusen). SD-OCT was used to image the optic disc, subretinal hyporeflective space (SHS), and alpha-angle (Aα). DISCUSSION: Optic disc SD-OCT may be useful for differentiating disc morphology in P and PP. The area of the SHS and the Aα were higher in the P patient than in the patient with PP.

Adams-Oliver syndrome associated with bilateral anterior polar cataracts and optic disk drusen.

Adams-Oliver syndrome (AOS) (MIM 100300) was first described in 1945 as a condition of terminal transverse limb defects and aplasia cutis congenita. Since then, its clinical features have been found to be highly variable and include cardiac defects, abdominal wall defects, vascular malformations, brain abnormalities, and ocular anomalies. We report the case of a 3-year-old girl with AOS who was also found to have bilateral anterior polar cataracts and pseudopapilledema secondary to optic disk drusen. To the best of our knowledge, this is the first case of bilateral anterior polar cataracts and pseudopapilledema secondary to optic disk drusen to be reported in association with the AOS.

[Drusen in children: three case studies]. / Les druses papillaires de l'enfant: à propos de 3 cas.

We report three cases of optic disc drusen in children. The children were 5 months, 10 years, and 11 years old. Two of them were male. The optic disc drusen was unilateral in two cases and bilateral in one case. One child had a history of Down syndrome and another one a history of Alagille syndrome. The third child had no particular general history but he had unilateral high myopia with optic disc drusen in the same eye. Fundus examination showed pseudopapilledema in all three cases; the disc appeared elevated and its margins were blurred. Ultrasonography of the eye demonstrated optic disc drusen in the three cases. Optic disc calcification on CT scan was identified in only one case. In children, optic disc drusen are often buried, leading to pseudopapilledema appearance of the optic disc. Ultrasonography is highly sensitive in detecting optic disc drusen, making more expensive investigations unnecessary.