Intrafamilial heterogeneity of congenital optic disc pit maculopathy

Rossi, Silvia; Rosa, Giuseppe De; D'Alterio, Francesco Maria; Orrico, Ada; Banfi, Sandro; Testa, Francesco; Simonelli, Francesca

doi:10.1080/13816810.2016.1188120

Cited by 6 publications

(4 citation statements)

References 23 publications

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“…Both sexes are equally affected, they occur with an estimated prevalence of 1 in 11,000 ophthalmic patients and are unilateral in 85-90% of the cases [1,2]. ODPs occur mostly sporadically but autosomal-dominant inheritance patterns have been observed [3,4]. They are typically detected at the inferotemporal segment and appear as single round or oval, grayish depressions at the optic disc [5] (Figs.…”

Section: Introductionmentioning

confidence: 99%

Long-term outcomes of autologous platelet treatment for optic disc pit maculopathy

Gklavas

Athanasiou

Neubauer

et al. 2023

Graefes Arch Clin Exp Ophthalmol

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Purpose Optic disc pits (ODPs) are rare congenital cavitary abnormalities of the optic nerve head, which can lead to serous macular detachments. The aim of this study was to evaluate the long-term efficacy of pars plana vitrectomy (PPV) combined with autologous platelet concentrate (APC) for the treatment of optic disc pit maculopathy (ODP-M). Methods A retrospective analysis was performed on eleven eyes of ten patients with ODP-M, who received PPV combined with APC. Nine eyes operated primary, four of which had a repeat surgery also with injection of APC and two eyes underwent a rescue surgery, after they have been operated in another eye center without APC. Morphological and functional results were the main outcome parameters, determined by optical coherence tomography (OCT) and best-corrected visual acuity (BCVA), respectively. Results The mean duration of visual loss before surgery was 4.7 ± 3.89 months (range 0–12 months). The mean BCVA increased significantly from 0.82 ± 0.33 logMAR (range 0.4–1.3) preoperatively to 0.51 ± 0.36 logMAR (range 0–1.2) at the last examination (p = 0.0022). A significant morphological improvement was also noticed with decrease of the mean foveal thickness from 935.82 ± 248.48 µm (range 559–1400 µm) preoperatively to 226.45 ± 76.09 µm (range 110–344 µm) at the final examination (p < 0.0001). The patients were followed-up for a mean 65.36 ± 48.81 months (range 1–144 months). Two eyes developed postoperatively a retinal detachment. Cataract surgery was performed in 5 eyes during the follow-up period. Conclusion Our study demonstrated that PPV with APC can improve functional and morphological outcomes, both as a primary and a rescue therapy, without any recurrence over a long follow-up period. To the best of our knowledge, this was the longest observation period regarding the use of APC in treatment of ODP-M.

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Section: Introductionmentioning

confidence: 99%

Long-term outcomes of autologous platelet treatment for optic disc pit maculopathy

Gklavas

Athanasiou

Neubauer

et al. 2023

Graefes Arch Clin Exp Ophthalmol

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“…Although mostly unilateral, bilateral ODP occurs in up to 15% of cases [1,7]. Most cases are sporadic, but in families with more than one affected member, autosomal inheritance has also been reported [8][9][10].…”

Section: Diagnostic and Therapeutic Approaches To Optic Disc Pit Maculopathy In Children Introductionmentioning

confidence: 99%

Diagnostic and therapeutic approaches to optic disc pit maculopathy in children

Kalogeropoulos¹,

Asproudis²,

Ch'ng³

et al. 2021

Med Hypothesis Discov Innov Optom

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Background: Optic disc pit (ODP) is a rare congenital defect of the optic disc that can lead to maculopathy and gradual visual impairment. This review summarizes our current knowledge on the diagnostic and therapeutic approaches to ODP maculopathy (ODP-M) in children. Methods: A thorough literature search was performed using the PubMed/MEDLINE database from 1960 to 2020. An additional search was conducted using Google Scholar for completeness. Results: ODP-M is characterized by the accumulation of subretinal and/or intraretinal fluid. The exact pathogenetic mechanisms are not fully understood, and the origin of the fluid remains unknown. Although ODP-M is more likely to occur during the third or fourth decade of life, cases of children with serous retinal detachment have been recorded. Early diagnosis of ODP-M and prompt, appropriate management are crucial, particularly in patients of amblyogenic age. In adults, ODP-M may resolve spontaneously, but most cases require surgical intervention to prevent permanent loss of vision. However, the fact that ODP-M may spontaneously resolve in children cannot be ignored. Various surgical methods have been described, including pars plana vitrectomy (PPV) combined with various techniques, including laser photocoagulation, intravitreal gas injection, and macular buckling. Conclusions: PPV remains the mainstay surgical approach for ODP-M. However, ODP-M may differ between children and adults. Children constitute a unique population of patients that require a different and probably more tailor-made approach. Detailed clinical examination, combined with a thorough analysis of retinal imaging, may improve our understanding of the background and pathophysiology of the disease and eventually provide us with new insights into the management of ODP-M in the pediatric population. How to cite this article: Kalogeropoulos D, Asproudis I, Ch’ng SW, Mitra A, Sharma A, Katsikatsos K, Asproudis C, Kalogeropoulos C. Diagnostic and therapeutic approaches to optic disc pit maculopathy in children. Med Hypothesis Discov Innov Optom.2021 Spring; 2(1): 24-35. DOI: https://doi.org/10.51329/mehdioptometry122

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“…Congenital optic disc pits (ODPs) are well-circumscribed depressions within the optic disc thought to arise from anomalous closure of the optic fissure during embryonic development [ 1 , 2 ]. These are rare clinical entities, occurring at a rate of about 1:11,000 [ 3 ], and are not to be confused with acquired pits of the optic nerve encountered in the setting of primary open-angle glaucoma and pathologic myopia [ 4 ]. A study by Ohno-Matsui et al [ 5 ] demonstrated that pit-like clefts of the optic nerve or adjacent scleral crescent were found in 16.2% of highly myopic eyes.…”

Section: Introductionmentioning

confidence: 99%

“…A number of strategies have been employed in the search for the genetic variation underlying CODAs. Screening of candidate genes known to be associated with ocular malformation, such as PAX2 (oculorenal syndrome), PAX3 (Waardenburg Type 3), PAX6 (aniridia), SHH (ocular coloboma), MITF (Waardenburg Type 1 and 2), and MIR204 (familial colobomas with retinal dystrophy) have thus far been unrewarding [ 4 , 7 , 8 , 9 , 10 ]. In a significant advance, however, Fingert et al [ 7 ] established linkage to chromosome 12q in a pedigree-based multipoint approach using 17 family members affected with an array of cavitary disc anomalies.…”

Section: Introductionmentioning

confidence: 99%

Familial Optic Disc Pits in 2 Father-Son Pairs: Clinical Features and Genetic Analysis

Betsch

Orr

Nightingale

et al. 2021

Case Rep Ophthalmol

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Congenital optic disc pits (ODPs) are well-circumscribed depressions within the optic disc. Thought to arise from anomalous closure of the optic fissure during embryonic development, they are now considered to lie on a broader spectrum of congenital optic disc anomaly (CODA). An increasing number of reports describe clustering of these cases within families, suggesting that inherited genetic elements play a role in disease predisposition. Here, we highlight the clinical features of 2 sets of father-son pairs affected with ODPs and provide preliminary molecular genetic analysis. Subjects underwent complete ophthalmological examination and imaging. In addition, whole-exome sequencing was carried out following informed consent. The resulting datasets were examined for potentially causal genetic variants, both in genes already known to be linked to CODA as well as those likely to lie in the same or similar genetic pathways. In this instance, no unambiguously causal variants were identified. This case series highlights the familial inheritance of ODPs, adding to the existing body of literature supporting an underlying genetic cause for this rare clinical entity. The inclusion here of specific molecular findings raises the hope that the genetic pathophysiology underlying rare entities like ODPs might be clarified in the future by the addition of similarly molecular-documented reports.

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Intrafamilial heterogeneity of congenital optic disc pit maculopathy

Cited by 6 publications

References 23 publications

Long-term outcomes of autologous platelet treatment for optic disc pit maculopathy

Long-term outcomes of autologous platelet treatment for optic disc pit maculopathy

Diagnostic and therapeutic approaches to optic disc pit maculopathy in children

Familial Optic Disc Pits in 2 Father-Son Pairs: Clinical Features and Genetic Analysis

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