Congenital Pits in the Optic Disc

Sugar, H. Saul

doi:10.1016/0002-9394(67)91553-x

Cited by 102 publications

(25 citation statements)

References 12 publications

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“…To our knowledge, only one other case of resolution with similar poor presenting acuity has been reported in this condition, by Sugar. [6] Their initial acuity was 6/60, with eventual resolution to 6/18 after an 8-year follow-up. Unlike their case, we had the ability to perform OCT examination 18 months and 30 months post-presentation.…”

Section: Discussionmentioning

confidence: 94%

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Visual improvement after long-standing central serous macular detachment associated with an optic disc pit

Patton

Aslam

Aylward

2008

Graefes Arch Clin Exp Ophthalmol

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Section: Discussionmentioning

confidence: 94%

“…Sugar in 1967 reported on the natural history of eight cases with documented follow-up (range 6 months to 10 years) [6]. Of the eight cases, seven had clinically documented resolution of subretinal fluid, and visual outcome was most dependent on initial presenting visual acuity.…”

Section: Discussionmentioning

confidence: 99%

Visual improvement after long-standing central serous macular detachment associated with an optic disc pit

Patton

Aslam

Aylward

2008

Graefes Arch Clin Exp Ophthalmol

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“…Although spontaneous resolution with improvement in vision has been reported [14, 15], the majority of cases have a poor prognosis, with a natural history of gradual worsening and a final VA of 20/200 or worse [16–18]. Therefore, interventions for the treatment of ODP-M are valuable, as they may prevent significant visual loss in these patients.…”

Section: Introductionmentioning

confidence: 99%

Optic disc pit maculopathy: when and how to treat? A review of the pathogenesis and treatment options

2015

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Optic disc pit (ODP) is a rare congenital anomaly of the optic disc, which can be complicated by a maculopathy associated with progressive visual loss. Optic disc pits are usually unilateral and sporadic in occurrence, and the development of maculopathy is unpredictable with no known triggers. Optic disc pit maculopathy (ODP-M) is characterized by intraretinal and subretinal fluid at the macula, causing visual deterioration. The source of this fluid is still unclear, and several competing theories have suggested it may be vitreous fluid, cerebrospinal fluid, leakage from blood vessels at the base of the pit or leakage from the choroid. The mechanism of pathogenesis of ODP-M has not been fully elucidated, but vitreous liquefaction and traction and pressure gradients within the eye have been implicated to be involved. There are no clear guidelines on the management of patients with ODP-M, and numerous techniques have been described, including laser photocoagulation, intravitreal gas injection, macular buckling and pars plana vitrectomy with many different modifications. The majority of reports describe small series, and as there are no comparative studies there is no consensus regarding the optimal treatment for ODP-M. This review discusses the literature on the possible sources of fluid and mechanisms of pathogenesis in ODP-M, as well as the wide array of treatment modalities and their results. Based on these, a set of recommended key concepts for the timing and choice of treatment for these challenging are presented.

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“…13,14 ODP-M usually becomes symptomatic in the 3rd or 4th decade of life; 10 however there have been some reports of serous detachment in children but none were bilateral at an early age. [15][16][17][18][19][20][21] In fact, while ODP-M occurred in the 4th decade of life in the father, maculopathy was present in the daughter since she was 6 years old. This demonstrates a heterogeneity of ODP-M with different degrees of disease severity also within the same family.…”

Section: Discussionmentioning

confidence: 99%

Intrafamilial heterogeneity of congenital optic disc pit maculopathy

Rossi

Rosa

D'Alterio

et al. 2016

Ophthalmic Genetics

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The findings of our familial cases support the hypothesis that optic disc pit associated with maculopathy could be a genetic disease with an autosomal dominant inheritance pattern. Optical coherence tomography is the most helpful diagnostic tool to assess maculopathy associated with optic disc pit. Microperimetry and multifocal-electroretinography are useful for the diagnosis of macular dysfunction in the early stages, and for the prognosis and follow-up of optic disc pit-maculopathy which is the main cause of visual impairment in these patients. Furthermore, in consideration of the variable expressivity and disease severity reported in our cases, genetic anticipation may be hypothesized.

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Congenital Pits in the Optic Disc

Cited by 102 publications

References 12 publications

Visual improvement after long-standing central serous macular detachment associated with an optic disc pit

Visual improvement after long-standing central serous macular detachment associated with an optic disc pit

Optic disc pit maculopathy: when and how to treat? A review of the pathogenesis and treatment options

Intrafamilial heterogeneity of congenital optic disc pit maculopathy

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